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Wyszukujesz frazę ""Pseudohypoaldosteronism"" wg kryterium: Temat


Tytuł :
Prevalence, diagnosis, and management of secondary pseudohypoaldosteronism.
Autorzy :
Memoli E; Pediatric Institute of Southern Switzerland, Ospedale San Giovanni, Bellinzona, Switzerland.
Lava SAG; Pediatric Cardiology Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois (CHUV), and University of Lausanne, 1010, Lausanne, Switzerland.
Bianchetti MG; Pediatric Institute of Southern Switzerland, Ospedale San Giovanni, Bellinzona, Switzerland. .; Faculty of Biomedical Sciences, Università della Svizzera Italiana, Via Buffi 13, Lugano, Switzerland. .
Vianello F; Pediatric Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milan, Italy.
Agostoni C; Pediatric Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milan, Italy.
Milani GP; Pediatric Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milan, Italy.
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Źródło :
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2020 Apr; Vol. 35 (4), pp. 713-714. Date of Electronic Publication: 2019 Dec 20.
Typ publikacji :
Letter; Comment
Journal Info :
Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr. Nephrol. Subsets: MEDLINE
MeSH Terms :
Acidosis*
Hyperkalemia*
Hyponatremia*
Pseudohypoaldosteronism*
Humans ; Infant ; Prevalence
Opinia redakcyjna
Tytuł :
One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature.
Autorzy :
Yakubov R; Department of Pediatrics, Nephrology Unit, Hillel Yaffe Medical Center, Ha-Shalom Street, 38100, Hadera, Israel. .
Ayman A; Department of Pediatrics, Nephrology Unit, Hillel Yaffe Medical Center, Ha-Shalom Street, 38100, Hadera, Israel.
Kremer AK; Department of Pediatrics, Nephrology Unit, Hillel Yaffe Medical Center, Ha-Shalom Street, 38100, Hadera, Israel.
van den Akker M; Department of Pediatrics, Queen Paola Children's Hospital, Antwerp, Belgium.; Department of Pediatric Hematology Oncology, UZ Brussel, Brussels, Belgium.
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Źródło :
Journal of medical case reports [J Med Case Rep] 2019 Dec 29; Vol. 13 (1), pp. 386. Date of Electronic Publication: 2019 Dec 29.
Typ publikacji :
Case Reports; Journal Article; Review
Journal Info :
Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE
MeSH Terms :
CDC2 Protein Kinase/*genetics
Intellectual Disability/*genetics
Mutation, Missense/*genetics
Pseudohypoaldosteronism/*diagnosis
Psychomotor Disorders/*genetics
Chelating Agents/therapeutic use ; DNA Mutational Analysis ; Female ; Humans ; Infant ; Methylphenidate/therapeutic use ; Polystyrenes/therapeutic use ; Pseudohypoaldosteronism/genetics ; Pseudohypoaldosteronism/physiopathology ; Psychomotor Disorders/diagnosis ; Receptors, Mineralocorticoid/genetics ; Risperidone/therapeutic use ; Serotonin Antagonists/therapeutic use
Czasopismo naukowe
Tytuł :
An infant with hyponatremia, hyperkalemia, and metabolic acidosis associated with urinary tract infection: Answers.
Autorzy :
Atmis B; Faculty of Medicine, Department of Pediatric Nephrology, Cukurova University, Adana, Turkey. .
Turan İ; Faculty of Medicine, Department of Pediatric Endocrinology, Cukurova University, Adana, Turkey.
Melek E; Faculty of Medicine, Department of Pediatric Nephrology, Cukurova University, Adana, Turkey.
Bayazit AK; Faculty of Medicine, Department of Pediatric Nephrology, Cukurova University, Adana, Turkey.
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Źródło :
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2019 Oct; Vol. 34 (10), pp. 1739-1741. Date of Electronic Publication: 2019 May 03.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr. Nephrol. Subsets: MEDLINE
MeSH Terms :
Acidosis/*blood
Anti-Bacterial Agents/*therapeutic use
Pseudohypoaldosteronism/*diagnosis
Pyelonephritis/*etiology
Urogenital Abnormalities/*surgery
Vesico-Ureteral Reflux/*surgery
Acidosis/diagnosis ; Acidosis/etiology ; Aldosterone/blood ; Female ; Humans ; Hyperkalemia/blood ; Hyperkalemia/diagnosis ; Hyperkalemia/etiology ; Hyperkalemia/urine ; Hyponatremia/blood ; Hyponatremia/diagnosis ; Hyponatremia/etiology ; Hyponatremia/urine ; Infant ; Pseudohypoaldosteronism/blood ; Pseudohypoaldosteronism/complications ; Pyelonephritis/diagnosis ; Pyelonephritis/drug therapy ; Renin/blood ; Urogenital Abnormalities/blood ; Urogenital Abnormalities/complications ; Urogenital Abnormalities/urine ; Vesico-Ureteral Reflux/blood ; Vesico-Ureteral Reflux/complications ; Vesico-Ureteral Reflux/urine
SCR Disease Name :
Cakut
Czasopismo naukowe
Tytuł :
Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1.
Autorzy :
Gopal-Kothandapani JS; Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
Doshi AB; Sheffield Medical School, University of Sheffield, Sheffield, UK.
Smith K; Department of Genetics, Sheffield Children's Hospital, Sheffield, UK.
Christian M; Department of Paediatric Nephrology, Nottingham University Hospitals NHS Trust, Nottingham, UK.
Mushtaq T; Department of Paediatric Endocrinology, Leeds General Infirmary, Leeds, UK.
Banerjee I; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK.
Padidela R; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK.
Ramakrishnan R; Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Owen C; Department of Paediatric Endocrinology, The Newcastle Upon Tyne Hospitals and NHS Trust, Newcastle upon Tyne, UK.
Cheetham T; Department of Paediatric Endocrinology, The Newcastle Upon Tyne Hospitals and NHS Trust, Newcastle upon Tyne, UK.
Dimitri P; Department of Paediatric Endocrinology, Sheffield Children's Hospital, Sheffield, UK.; Professor of Child Health and Consultant in Paediatric Endocrinology, The Department of Paediatric Endocrinology, The Academic Unit of Child Health, Damer St. Building, Sheffield Children's NHS Trust, Western Bank, Sheffield S10 2TH, UK.
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Źródło :
Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2019 Sep 25; Vol. 32 (9), pp. 959-967.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J. Pediatr. Endocrinol. Metab. Subsets: MEDLINE
MeSH Terms :
Mutation, Missense*
Biomarkers/*analysis
Epithelial Sodium Channels/*genetics
Pseudohypoaldosteronism/*genetics
Receptors, Mineralocorticoid/*genetics
Aldosterone/blood ; Child ; Child, Preschool ; Cross-Sectional Studies ; Female ; Follow-Up Studies ; Genetic Association Studies ; Genotype ; Humans ; Infant, Newborn ; Male ; Phenotype ; Prognosis ; Pseudohypoaldosteronism/classification ; Pseudohypoaldosteronism/pathology
Czasopismo naukowe
Tytuł :
A novel SCNN1G mutation in a PHA I infant patient correlates with nephropathy.
Autorzy :
Yin LP; Pediatric Department, Zhongda Hospital of Southeast University, Nanjing, 210009, Jiangsu, China. Electronic address: .
Zhu H; Pediatric Department, Zhongda Hospital of Southeast University, Nanjing, 210009, Jiangsu, China. Electronic address: .
Zhu RY; Pediatric Department, Zhongda Hospital of Southeast University, Nanjing, 210009, Jiangsu, China. Electronic address: .
Huang L; Pediatric Department, Zhongda Hospital of Southeast University, Nanjing, 210009, Jiangsu, China. Electronic address: .
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Źródło :
Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2019 Nov 05; Vol. 519 (2), pp. 415-421. Date of Electronic Publication: 2019 Sep 12.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2104 (Electronic) Linking ISSN: 0006291X NLM ISO Abbreviation: Biochem. Biophys. Res. Commun. Subsets: MEDLINE
MeSH Terms :
Mutation*
Epithelial Sodium Channels/*genetics
Kidney Diseases/*genetics
Pseudohypoaldosteronism/*genetics
Animals ; Apoptosis ; Epithelial Sodium Channels/blood ; Humans ; Infant ; Kidney Diseases/blood ; Kidney Diseases/pathology ; Pseudohypoaldosteronism/blood ; Rats
Czasopismo naukowe
Tytuł :
A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4.
Autorzy :
Sakoh T; Nephrology Center, Toranomon Hospital, Tokyo, Japan.
Sekine A; Nephrology Center, Toranomon Hospital, Tokyo, Japan.
Mori T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Mizuno H; Nephrology Center, Toranomon Hospital, Tokyo, Japan.
Kawada M; Nephrology Center, Toranomon Hospital, Tokyo, Japan.
Hiramatsu R; Nephrology Center, Toranomon Hospital, Tokyo, Japan.
Hasegawa E; Nephrology Center, Toranomon Hospital, Tokyo, Japan.
Hayami N; Nephrology Center, Toranomon Hospital, Tokyo, Japan.
Yamanouchi M; Nephrology Center, Toranomon Hospital, Tokyo, Japan.
Suwabe T; Nephrology Center, Toranomon Hospital, Tokyo, Japan.
Sawa N; Nephrology Center, Toranomon Hospital, Tokyo, Japan.
Ubara Y; Nephrology Center, Toranomon Hospital, Tokyo, Japan.; Okinaka Memorial Institute for Medical Research, Toranomon Hospital, Tokyo, Japan.
Fujimaru T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Sohara E; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Shinichi U; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Hoshino J; Nephrology Center, Toranomon Hospital, Tokyo, Japan.; Okinaka Memorial Institute for Medical Research, Toranomon Hospital, Tokyo, Japan.
Takaichi K; Nephrology Center, Toranomon Hospital, Tokyo, Japan.; Okinaka Memorial Institute for Medical Research, Toranomon Hospital, Tokyo, Japan.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Jun; Vol. 7 (6), pp. e705. Date of Electronic Publication: 2019 May 01.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE
MeSH Terms :
Mutation, Missense*
Protein-Serine-Threonine Kinases/*genetics
Pseudohypoaldosteronism/*genetics
Adult ; Amino Acid Motifs ; Antihypertensive Agents/therapeutic use ; Diuretics/therapeutic use ; Female ; Humans ; Pedigree ; Phenotype ; Protein-Serine-Threonine Kinases/chemistry ; Pseudohypoaldosteronism/pathology ; Pseudohypoaldosteronism/therapy ; Trichlormethiazide/therapeutic use
Czasopismo naukowe
Tytuł :
Bilateral pseudocyst of the auricles in a 4-week neonate-case report and world literature review.
Autorzy :
Dutsch-Wicherek M; Jagiellonian University, Department of Pediatric Otolaryngology, Krakow, 31-501, ul. Wielicka 265, Poland. Electronic address: .
Trzebuniak I; Jagiellonian University, Department of Pediatrics, Rheumatology and Environmental Diseases, Poland.
Szymońska I; Jagiellonian University, Department of Pediatrics, Rheumatology and Environmental Diseases, Poland.
Młynarski D; Jagiellonian University, Department of Pediatrics, Rheumatology and Environmental Diseases, Poland.
Kobos J; Department of Histology & Embriology, Chair of Anatomy & Histology Medical University of Lodz, Poland.
Wicherek Ł; Department of Obstetrics and Gynecology, Medical Center for Postgraduate Education (CMKP), Warsaw, Poland.
Kwinta P; Jagiellonian University, Department of Pediatrics, Rheumatology and Environmental Diseases, Poland.
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Źródło :
International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2019 Jul; Vol. 122, pp. 1-5. Date of Electronic Publication: 2019 Mar 22.
Typ publikacji :
Case Reports; Journal Article; Review
Journal Info :
Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8464 (Electronic) Linking ISSN: 01655876 NLM ISO Abbreviation: Int. J. Pediatr. Otorhinolaryngol.
MeSH Terms :
Ear Diseases/*surgery
Edema/*etiology
Pseudohypoaldosteronism/*diagnosis
Blood Pressure ; Cysts/diagnosis ; Cysts/surgery ; Ear Auricle ; Ear Diseases/complications ; Ear Diseases/diagnosis ; Foot ; Hand ; Humans ; Infant, Newborn ; Male ; Pseudohypoaldosteronism/complications
Czasopismo naukowe
Tytuł :
Transient pseudohypoaldosteronism: a potentially severe condition affecting infants with urinary tract malformation.
Autorzy :
Delforge X; Department of Pediatric Urology, CHU Amiens, France. Electronic address: .
Kongolo G; Department of Pediatric Intensive Care Unit, CHU Amiens, France.
Cauliez A; Department of Pediatric Endocrinology, CHU Amiens, France.
Braun K; Department of Pediatric Endocrinology, CHU Amiens, France.
Haraux E; Department of Pediatric Urology, CHU Amiens, France.
Buisson P; Department of Pediatric Urology, CHU Amiens, France.
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Źródło :
Journal of pediatric urology [J Pediatr Urol] 2019 May; Vol. 15 (3), pp. 265.e1-265.e7. Date of Electronic Publication: 2019 Mar 09.
Typ publikacji :
Journal Article; Review
Journal Info :
Publisher: Elsevier Country of Publication: England NLM ID: 101233150 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-4898 (Electronic) Linking ISSN: 14775131 NLM ISO Abbreviation: J Pediatr Urol Subsets: MEDLINE
MeSH Terms :
Pseudohypoaldosteronism/*diagnosis
Pseudohypoaldosteronism/*therapy
Urinary Tract/*abnormalities
Female ; Humans ; Infant ; Infant, Newborn ; Male ; Pseudohypoaldosteronism/etiology ; Retrospective Studies ; Severity of Illness Index ; Urinary Tract Infections/etiology
Czasopismo naukowe
Tytuł :
Dangerous hyperkalemia in a newborn: Answers.
Autorzy :
Mittal A; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, RJ, India. .; Department of Pediatrics, All India Institute of Medical Sciences, Room no. 3146, Third floor, Jodhpur, RJ, 342005, India. .
Khera D; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, RJ, India.
Vyas V; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, RJ, India.
Choudhary B; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, RJ, India.
Singh K; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, RJ, India.
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Źródło :
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2019 May; Vol. 34 (5), pp. 813-815. Date of Electronic Publication: 2018 Oct 31.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr. Nephrol. Subsets: MEDLINE
MeSH Terms :
Epithelial Sodium Channels/*genetics
Hyperkalemia/*diagnosis
Lethargy/*etiology
Potassium/*blood
Pseudohypoaldosteronism/*diagnosis
Acute Kidney Injury/diagnosis ; Adrenal Hyperplasia, Congenital/diagnosis ; Chelating Agents/administration & dosage ; Consanguinity ; DNA Mutational Analysis ; Diagnosis, Differential ; Fluid Therapy ; Humans ; Hyperkalemia/complications ; Hyperkalemia/genetics ; Hyperkalemia/therapy ; Infant, Newborn ; Male ; Mutation ; Peritoneal Dialysis ; Polystyrenes/administration & dosage ; Pseudohypoaldosteronism/blood ; Pseudohypoaldosteronism/complications ; Pseudohypoaldosteronism/genetics ; Sepsis/diagnosis ; Severity of Illness Index ; Sodium/administration & dosage
Czasopismo naukowe
Tytuł :
Complete clinical resolution of a Japanese family with renal pseudohypoaldosteronism type 1 due to a novel NR3C2 mutation.
Autorzy :
Tanaka T; Department of Pediatrics, Hirosaki University Hospital, Aomori, Japan.
Oki E; Department of Pediatrics, Tsugaru General Hospital, Aomori, Japan.
Mori T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Tsuruga K; Department of Pediatrics, Hirosaki University Hospital, Aomori, Japan.
Sohara E; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Uchida S; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Tanaka H; Department of Pediatrics, Hirosaki University Hospital, Aomori, Japan.; Department of School Health Science, Hirosaki University Faculty of Education, Aomori, Japan.
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Źródło :
Nephrology (Carlton, Vic.) [Nephrology (Carlton)] 2019 Apr; Vol. 24 (4), pp. 489-490.
Typ publikacji :
Case Reports; Letter
Journal Info :
Publisher: Blackwell Science Country of Publication: Australia NLM ID: 9615568 Publication Model: Print Cited Medium: Internet ISSN: 1440-1797 (Electronic) Linking ISSN: 13205358 NLM ISO Abbreviation: Nephrology (Carlton) Subsets: MEDLINE
MeSH Terms :
Pseudohypoaldosteronism*/blood
Pseudohypoaldosteronism*/diagnosis
Pseudohypoaldosteronism*/genetics
Pseudohypoaldosteronism*/physiopathology
Aldosterone/*blood
Receptors, Mineralocorticoid/*genetics
Age Factors ; Child, Preschool ; Failure to Thrive/genetics ; Genetic Association Studies ; Humans ; Japan ; Kidney/metabolism ; Kidney Function Tests/methods ; Male ; Medical History Taking ; Mutation
Raport
Tytuł :
A potential serious complication in infants with congenital obstructive uropathy: Secondary pseudohypoaldosteronism.
Autorzy :
Korkut S; Department of Neonatology, Erciyes University Medical Faculty, Turkey.
Akin L; Department of Pediatric Endocrinology, Erciyes University Medical Faculty, Turkey.
Hatipoglu N; Department of Pediatric Endocrinology, Erciyes University Medical Faculty, Turkey.
Özdemir A; Department of Neonatology, Erciyes University Medical Faculty, Turkey.
Gündüz Z; Department of Pediatric Nephrology, Erciyes University Medical Faculty, Turkey.
Dursun I; Department of Pediatric Nephrology, Erciyes University Medical Faculty, Turkey.
Korkmaz L; Department of Neonatology, Erciyes University Medical Faculty, Turkey.
Dursun I; Department of Pediatric Nephrology, Erciyes University Medical Faculty, Turkey.
Kurtoglu S; Department of Neonatology, Erciyes University Medical Faculty, Turkey.
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Źródło :
JPMA. The Journal of the Pakistan Medical Association [J Pak Med Assoc] 2019 Jan; Vol. 69 (1), pp. 108-112.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Pakistan Medical Association Country of Publication: Pakistan NLM ID: 7501162 Publication Model: Print Cited Medium: Print ISSN: 0030-9982 (Print) Linking ISSN: 00309982 NLM ISO Abbreviation: J Pak Med Assoc Subsets: MEDLINE
MeSH Terms :
Hyperkalemia*/diagnosis
Hyperkalemia*/etiology
Hyponatremia*/diagnosis
Hyponatremia*/etiology
Pseudohypoaldosteronism*/diagnosis
Pseudohypoaldosteronism*/etiology
Pseudohypoaldosteronism*/metabolism
Pseudohypoaldosteronism*/therapy
Urinary Tract Infections*/complications
Urinary Tract Infections*/drug therapy
Urinary Tract Infections*/metabolism
Urogenital Abnormalities*/complications
Urogenital Abnormalities*/metabolism
Urogenital Abnormalities*/surgery
Water-Electrolyte Imbalance*/diagnosis
Water-Electrolyte Imbalance*/etiology
Water-Electrolyte Imbalance*/therapy
Aldosterone/*blood
Diagnosis, Differential ; Female ; Humans ; Infant ; Male ; Natriuresis ; Retrospective Studies ; Turkey
Czasopismo naukowe
Tytuł :
Transient pseudohypo-aldosteronism.
Autorzy :
Günay N; a Faculty of Medicine, Department of Pediatric Nephrology , Erciyes University , Turkey.
Küçükaydın Z; b Faculty of Medicine, Department of Pediatrics , Erciyes University , Turkey.
Pınarbaşı S; a Faculty of Medicine, Department of Pediatric Nephrology , Erciyes University , Turkey.
Dursun İ; a Faculty of Medicine, Department of Pediatric Nephrology , Erciyes University , Turkey.
Düşünsel R; a Faculty of Medicine, Department of Pediatric Nephrology , Erciyes University , Turkey.
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Źródło :
Paediatrics and international child health [Paediatr Int Child Health] 2019 May; Vol. 39 (2), pp. 154. Date of Electronic Publication: 2018 Mar 01.
Typ publikacji :
Letter; Comment
Journal Info :
Publisher: Taylor & Francis Country of Publication: England NLM ID: 101582666 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2046-9055 (Electronic) Linking ISSN: 20469047 NLM ISO Abbreviation: Paediatr Int Child Health Subsets: MEDLINE
MeSH Terms :
Hyperaldosteronism*
Hyperkalemia*
Pseudohypoaldosteronism*
Failure to Thrive ; Humans ; Infant ; Weight Loss
Opinia redakcyjna
Tytuł :
An infant presenting with failure to thrive and hyperkalaemia owing to transient pseudohypoaldosteronism: case report.
Autorzy :
De Clerck M; a Departments of Paediatrics , Ghent University Hospital , Ghent , Belgium.
Vande Walle J; a Departments of Paediatrics , Ghent University Hospital , Ghent , Belgium.
Dhont E; b Departments of Paediatric Intensive Care , Ghent University Hospital , Ghent , Belgium.
Dehoorne J; a Departments of Paediatrics , Ghent University Hospital , Ghent , Belgium.
Keenswijk W; a Departments of Paediatrics , Ghent University Hospital , Ghent , Belgium.; c Department of Paediatrics , s'Lands Hospitaal , Paramaribo , Suriname.
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Źródło :
Paediatrics and international child health [Paediatr Int Child Health] 2018 Nov; Vol. 38 (4), pp. 277-280. Date of Electronic Publication: 2017 May 30.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Taylor & Francis Country of Publication: England NLM ID: 101582666 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2046-9055 (Electronic) Linking ISSN: 20469047 NLM ISO Abbreviation: Paediatr Int Child Health Subsets: MEDLINE
MeSH Terms :
Failure to Thrive/*etiology
Hyperkalemia/*etiology
Pseudohypoaldosteronism/*complications
Pseudohypoaldosteronism/*diagnosis
Adrenal Glands/pathology ; Anti-Infective Agents/therapeutic use ; Blood Chemical Analysis ; Failure to Thrive/pathology ; Humans ; Hyperkalemia/pathology ; Infant ; Male ; Pseudohypoaldosteronism/pathology ; Treatment Outcome ; Urinalysis ; Urinary Tract Infections/diagnosis ; Urinary Tract Infections/drug therapy
Czasopismo naukowe
Tytuł :
Decreased KLHL3 expression is involved in the pathogenesis of pseudohypoaldosteronism type II caused by cullin 3 mutation in vivo.
Autorzy :
Yoshida S; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Araki Y; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Mori T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Sasaki E; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Kasagi Y; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Isobe K; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Susa K; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Inoue Y; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Bomont P; Avenir-Atip Team, INM, INSERM, University of Montpellier, 34091, Montpellier Cedex 5, France.
Okado T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Rai T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Uchida S; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.
Sohara E; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan. .
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Źródło :
Clinical and experimental nephrology [Clin Exp Nephrol] 2018 Dec; Vol. 22 (6), pp. 1251-1257. Date of Electronic Publication: 2018 Jun 05.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Springer Country of Publication: Japan NLM ID: 9709923 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1437-7799 (Electronic) Linking ISSN: 13421751 NLM ISO Abbreviation: Clin. Exp. Nephrol. Subsets: MEDLINE
MeSH Terms :
Mutation*
Carrier Proteins/*physiology
Cullin Proteins/*genetics
Pseudohypoaldosteronism/*etiology
Animals ; Carrier Proteins/analysis ; Humans ; Mice ; Pseudohypoaldosteronism/genetics
Czasopismo naukowe
Tytuł :
Generation and analysis of a mouse model of pseudohypoaldosteronism type II caused by KLHL3 mutation in BTB domain.
Autorzy :
Lin CM; Graduate Institute of Medical Sciences, National Defense Medical Center, Taipei, Taiwan.; Department of Pediatrics, National Defense Medical Center, Taipei, Taiwan.
Cheng CJ; Division of Nephrology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
Yang SS; Graduate Institute of Medical Sciences, National Defense Medical Center, Taipei, Taiwan.; Division of Nephrology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
Tseng MH; Graduate Institute of Medical Sciences, National Defense Medical Center, Taipei, Taiwan.; Division of Pediatric Nephrology, Department of Pediatrics, Chang Gung Memorial Hospital, Taoyuan, Taiwan; and.
Yen MT; Graduate Institute of Medical Sciences, National Defense Medical Center, Taipei, Taiwan.; Division of Nephrology, Department of Medicine, Cathay General Hospital, Taipei, Taiwan.
Sung CC; Graduate Institute of Medical Sciences, National Defense Medical Center, Taipei, Taiwan.; Division of Nephrology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
Lin SH; Graduate Institute of Medical Sciences, National Defense Medical Center, Taipei, Taiwan.; Division of Nephrology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
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Źródło :
FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2019 Jan; Vol. 33 (1), pp. 1051-1061. Date of Electronic Publication: 2018 Aug 27.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J. Subsets: MEDLINE
MeSH Terms :
BTB-POZ Domain*
Mutation, Missense*
Microfilament Proteins/*genetics
Pseudohypoaldosteronism/*genetics
Animals ; Cullin Proteins/metabolism ; Disease Models, Animal ; Furosemide/administration & dosage ; Gene Knock-In Techniques ; HEK293 Cells ; Humans ; Hydrochlorothiazide/administration & dosage ; Kidney Tubules/metabolism ; Mice ; Phenotype ; Phosphorylation ; Protein-Serine-Threonine Kinases/genetics ; Protein-Serine-Threonine Kinases/metabolism ; Pseudohypoaldosteronism/metabolism ; RNA, Messenger/genetics ; Solute Carrier Family 12, Member 2/genetics ; Solute Carrier Family 12, Member 2/metabolism ; WNK Lysine-Deficient Protein Kinase 1/metabolism
Czasopismo naukowe
Tytuł :
Renal COP9 Signalosome Deficiency Alters CUL3-KLHL3-WNK Signaling Pathway.
Autorzy :
Cornelius RJ; Division of Nephrology and Hypertension, Department of Medicine, Oregon Health and Science University, Portland, Oregon.
Si J; Division of Nephrology and Hypertension, Department of Medicine, Oregon Health and Science University, Portland, Oregon.
Cuevas CA; Division of Nephrology and Hypertension, Department of Medicine, Oregon Health and Science University, Portland, Oregon.
Nelson JW; Division of Nephrology and Hypertension, Department of Medicine, Oregon Health and Science University, Portland, Oregon.
Gratreak BDK; Division of Nephrology and Hypertension, Department of Medicine, Oregon Health and Science University, Portland, Oregon.
Pardi R; School of Medicine and Scientific Institute, San Raffaele University, Milan, Italy; and.
Yang CL; Division of Nephrology and Hypertension, Department of Medicine, Oregon Health and Science University, Portland, Oregon.
Ellison DH; Division of Nephrology and Hypertension, Department of Medicine, Oregon Health and Science University, Portland, Oregon; .; Renal Section, Veterans Affairs Portland Health Care System, Portland, Oregon.
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Źródło :
Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2018 Nov; Vol. 29 (11), pp. 2627-2640. Date of Electronic Publication: 2018 Oct 09.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: American Society of Nephrology Country of Publication: United States NLM ID: 9013836 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-3450 (Electronic) Linking ISSN: 10466673 NLM ISO Abbreviation: J. Am. Soc. Nephrol. Subsets: MEDLINE
MeSH Terms :
COP9 Signalosome Complex/*deficiency
COP9 Signalosome Complex/*genetics
Kidney/*metabolism
Pseudohypoaldosteronism/*genetics
Pseudohypoaldosteronism/*metabolism
Animals ; COP9 Signalosome Complex/metabolism ; Cullin Proteins/metabolism ; Disease Models, Animal ; Female ; HEK293 Cells ; Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Intracellular Signaling Peptides and Proteins/metabolism ; Kidney/pathology ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Microfilament Proteins/metabolism ; Microscopy, Fluorescence ; Mutation ; Nephrons/metabolism ; Nephrons/pathology ; Peptide Hydrolases/deficiency ; Peptide Hydrolases/genetics ; Peptide Hydrolases/metabolism ; Phenotype ; Protein-Serine-Threonine Kinases/metabolism ; Proteolysis ; Pseudohypoaldosteronism/pathology ; Signal Transduction
Czasopismo naukowe
Tytuł :
A mouse model of pseudohypoaldosteronism type II reveals a novel mechanism of renal tubular acidosis.
Autorzy :
López-Cayuqueo KI; Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 970, Paris, France; Centro de Estudios Científicos, Valdivia, Chile.
Chavez-Canales M; Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 970, Paris, France.
Pillot A; Centre National de la Recherche Scientifique Equipe de Recherche Labelisée 8228, Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S1138, Centre de Recherche des Cordeliers, Paris, France.
Houillier P; Centre National de la Recherche Scientifique Equipe de Recherche Labelisée 8228, Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S1138, Centre de Recherche des Cordeliers, Paris, France; Genetics, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.
Jayat M; Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 970, Paris, France.
Baraka-Vidot J; Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 1188, CYROI, Sainte Clotilde, La Réunion, France.
Trepiccione F; Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 970, Paris, France.
Baudrie V; Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 970, Paris, France; Genetics, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.
Büsst C; Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 970, Paris, France.
Soukaseum C; Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 970, Paris, France.
Kumai Y; Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 970, Paris, France.
Jeunemaître X; Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 970, Paris, France; Genetics, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.
Hadchouel J; Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 970, Paris, France.
Eladari D; Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 970, Paris, France; Service d'Explorations Fonctionnelles Rénales, Hôpital Felix Guyon, CHU de la Réunion, Saint Denis, La Réunion, France; Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 1188, CYROI, Sainte Clotilde, La Réunion, France. Electronic address: .
Chambrey R; Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 970, Paris, France; Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 1188, CYROI, Sainte Clotilde, La Réunion, France; Centre National de la Recherche Scientifique, Délégation Paris Michel-Ange, Paris, France. Electronic address: .
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Źródło :
Kidney international [Kidney Int] 2018 Sep; Vol. 94 (3), pp. 514-523. Date of Electronic Publication: 2018 Jul 07.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int. Subsets: MEDLINE
MeSH Terms :
Acidosis, Renal Tubular/*physiopathology
Kidney Tubules, Collecting/*physiopathology
Protein-Serine-Threonine Kinases/*genetics
Pseudohypoaldosteronism/*complications
Sulfate Transporters/*metabolism
Acidosis, Renal Tubular/blood ; Acidosis, Renal Tubular/etiology ; Animals ; Disease Models, Animal ; Gene Knockout Techniques ; Humans ; Kidney Tubules, Collecting/metabolism ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; Mutation, Missense ; Potassium/blood ; Potassium/metabolism ; Pseudohypoaldosteronism/genetics ; Pseudohypoaldosteronism/physiopathology ; Renal Elimination ; Sodium Chloride/metabolism ; Sodium-Bicarbonate Symporters/metabolism ; Sulfate Transporters/genetics ; Up-Regulation
Czasopismo naukowe
Tytuł :
Failure to Thrive, Hyponatremia, Hyperkalemia - Differential Diagnostic Reflections of a Rare Genetic Disease.
Autorzy :
Tropschuh A; Kliniken St. Elisabeth, Klinik für Kinder und Jugendliche, Neuburg an der Donau.
de Potzolli B; Kliniken St. Elisabeth, Klinik für Kinder und Jugendliche, Neuburg an der Donau.
Seeliger S
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Źródło :
Klinische Padiatrie [Klin Padiatr] 2020 Jan; Vol. 232 (1), pp. 29-32. Date of Electronic Publication: 2020 Jan 08.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Ferdinand Enke Verlag Country of Publication: Germany NLM ID: 0326144 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-3824 (Electronic) Linking ISSN: 03008630 NLM ISO Abbreviation: Klin Padiatr Subsets: MEDLINE
MeSH Terms :
Failure to Thrive*
Hyperkalemia*
Hyponatremia*
Pseudohypoaldosteronism/*diagnosis
Pseudohypoaldosteronism/*genetics
Adult ; Aldosterone ; Child, Preschool ; Diagnosis, Differential ; Humans ; Polyuria ; Rare Diseases
Czasopismo naukowe
Tytuł :
Pendred, pendrin, pseudohypoaldosteronism type II, and renal tubular acidosis.
Autorzy :
Luft FC; Experimental and Clinical Research Center, Max-Delbrück Center and Charité Medical Faculty, Berlin, Germany. Electronic address: .
Wagner CA; Institute of Physiology, University of Zurich, Zurich, Switzerland.
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Źródło :
Kidney international [Kidney Int] 2018 Sep; Vol. 94 (3), pp. 457-459.
Typ publikacji :
Journal Article; Comment
Journal Info :
Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int. Subsets: MEDLINE
MeSH Terms :
Acidosis, Renal Tubular*
Pseudohypoaldosteronism*
Animals ; Hyperkalemia ; Hypertension ; Mice ; Sodium Chloride Symporters
Czasopismo naukowe
Tytuł :
Renal Mg handling, FXYD2 and the central role of the Na,K-ATPase.
Autorzy :
Mayan H; Department of Medicine E, Sheba Medical Center, Ramat Gan, Israel.; Laboratory of Biochemical Pharmacology, Sheba Medical Center, Ramat Gan, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Farfel Z; Department of Medicine E, Sheba Medical Center, Ramat Gan, Israel.; Laboratory of Biochemical Pharmacology, Sheba Medical Center, Ramat Gan, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovoth, Israel.
Karlish SJD; Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovoth, Israel.
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Źródło :
Physiological reports [Physiol Rep] 2018 Sep; Vol. 6 (17), pp. e13843.
Typ publikacji :
Journal Article; Review
Journal Info :
Publisher: published by Wiley Periodicals, Inc. on behalf of the American Physiological Society and The Physiological Society Country of Publication: United States NLM ID: 101607800 Publication Model: Print Cited Medium: Internet ISSN: 2051-817X (Electronic) Linking ISSN: 2051817X NLM ISO Abbreviation: Physiol Rep Subsets: MEDLINE
MeSH Terms :
Gitelman Syndrome/*metabolism
Kidney/*metabolism
Magnesium/*metabolism
Pseudohypoaldosteronism/*metabolism
Sodium-Potassium-Exchanging ATPase/*metabolism
Animals ; Gitelman Syndrome/genetics ; Humans ; Pseudohypoaldosteronism/genetics ; Sodium-Potassium-Exchanging ATPase/genetics
Czasopismo naukowe

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