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Wyszukujesz frazę ""Acidosis, Renal Tubular"" wg kryterium: Temat


Tytuł :
[Severe proximal renal tubular acidosis with ocular abnormalities caused by SLC4A4 gene variation: a case report].
Autorzy :
Liu Y; Department of Nephrology, Tianjin Children's Hospital, Tianjin 300134, China.
Wang WW; Department of Nephrology, Tianjin Children's Hospital, Tianjin 300134, China.
Lei MF; Department of Neurology, Tianjin Children's Hospital, Tianjin 300134, China.
Chen WY; Department of Nephrology, Tianjin Children's Hospital, Tianjin 300134, China.
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Źródło :
Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2020 Mar 02; Vol. 58 (3), pp. 241-242.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium: Print ISSN: 0578-1310 (Print) Linking ISSN: 05781310 NLM ISO Abbreviation: Zhonghua Er Ke Za Zhi Subsets: MEDLINE
MeSH Terms :
Acidosis, Renal Tubular*/genetics
Sodium-Bicarbonate Symporters/*genetics
Humans ; Mutation, Missense
Czasopismo naukowe
Tytuł :
Tenofovir disoproxil fumarate-induced distal renal tubular acidosis: A case report.
Autorzy :
Salimi R; Department of Pharmacy Practice, Manipal College of Pharmaceutical Sciences, Manipal Academy of Higher Education, Manipal, India.
Begum I; Department of Pharmacy Practice, Manipal College of Pharmaceutical Sciences, Manipal Academy of Higher Education, Manipal, India.
Varma DM; Department of Medicine, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Nandakrishna B; Department of Medicine, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Rajesh R; Department of Pharmacy Practice, Manipal College of Pharmaceutical Sciences, Manipal Academy of Higher Education, Manipal, India.
Vidyasagar S; Department of Medicine, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
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Źródło :
International journal of STD & AIDS [Int J STD AIDS] 2020 Mar; Vol. 31 (3), pp. 276-279. Date of Electronic Publication: 2020 Jan 29.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Sage Country of Publication: England NLM ID: 9007917 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1758-1052 (Electronic) Linking ISSN: 09564624 NLM ISO Abbreviation: Int J STD AIDS Subsets: MEDLINE; AIDS
MeSH Terms :
Acidosis, Renal Tubular/*chemically induced
Anti-HIV Agents/*therapeutic use
HIV Infections/*drug therapy
Tenofovir/*therapeutic use
Acidosis, Renal Tubular/diagnosis ; Female ; HIV Infections/diagnosis ; Humans ; Middle Aged ; Tenofovir/adverse effects ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Metabolic alkalosis in patients with distal renal tubular acidosis.
Autorzy :
Watanabe T; Department of Pediatrics, Niigata City General Hospital. .
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Źródło :
Acta bio-medica : Atenei Parmensis [Acta Biomed] 2019 Dec 23; Vol. 90 (4), pp. 613. Date of Electronic Publication: 2019 Dec 23.
Typ publikacji :
Letter; Comment
Journal Info :
Publisher: Mattioli 1885 Country of Publication: Italy NLM ID: 101295064 Publication Model: Electronic Cited Medium: Internet ISSN: 2531-6745 (Electronic) Linking ISSN: 03924203 NLM ISO Abbreviation: Acta Biomed Subsets: MEDLINE
MeSH Terms :
Acidosis, Renal Tubular*
Alkalosis*
Diuretics ; Humans
Opinia redakcyjna
Tytuł :
Distal renal tubular acidosis: genetic causes and management.
Autorzy :
Soares SBM; Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Av. Prof. Alfredo Balena, 190, Room # 281, Belo Horizonte, MG, 30130-100, Brazil.
de Menezes Silva LAW; Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Av. Prof. Alfredo Balena, 190, Room # 281, Belo Horizonte, MG, 30130-100, Brazil.
de Carvalho Mrad FC; Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Av. Prof. Alfredo Balena, 190, Room # 281, Belo Horizonte, MG, 30130-100, Brazil.; Pediatric Nephrology Unit, Faculty of Medicine, UFMG, Belo Horizonte, Brazil.
Simões E Silva AC; Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Av. Prof. Alfredo Balena, 190, Room # 281, Belo Horizonte, MG, 30130-100, Brazil. .
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Źródło :
World journal of pediatrics : WJP [World J Pediatr] 2019 Oct; Vol. 15 (5), pp. 422-431. Date of Electronic Publication: 2019 May 11.
Typ publikacji :
Journal Article; Review
Journal Info :
Publisher: Springer International Publ Country of Publication: Switzerland NLM ID: 101278599 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1867-0687 (Electronic) NLM ISO Abbreviation: World J Pediatr Subsets: MEDLINE
MeSH Terms :
Acidosis, Renal Tubular/*drug therapy
Acidosis, Renal Tubular/*genetics
Acidosis, Renal Tubular/diagnosis ; Acidosis, Renal Tubular/physiopathology ; Adolescent ; Anion Exchange Protein 1, Erythrocyte/genetics ; Child ; Humans ; Mutation ; Vacuolar Proton-Translocating ATPases/genetics
Czasopismo naukowe
Tytuł :
A rare case of autosomal recessive ATP6V0A4 variant of distal renal tubular acidosis in a young female with recurrent nephrolithiasis.
Autorzy :
Anupama PH; Department of Internal Medicine, Sri Ramachandra Institute of Higher Education and Research, Porur, Chennai, Tamil Nadu, India.
Abraham G; Department of Internal Medicine, Pondicherry Institute of Medical Sciences and Madras Medical Mission Hospital, Chennai, Tamil Nadu, India.
Shanmugasundaram L; Department of Obstetrics and Gynecology, Madras Medical Mission Hospital, Chennai, Tamil Nadu, India.
Anupama SH; Department of Nephrology, Madras Medical Mission Hospital, Mogappair, Chennai, Tamil Nadu, India.
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Źródło :
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia [Saudi J Kidney Dis Transpl] 2019 Nov-Dec; Vol. 30 (6), pp. 1442-1446.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Medknow Country of Publication: Saudi Arabia NLM ID: 9436968 Publication Model: Print Cited Medium: Internet ISSN: 1319-2442 (Print) Linking ISSN: 13192442 NLM ISO Abbreviation: Saudi J Kidney Dis Transpl Subsets: MEDLINE
MeSH Terms :
Nephrolithiasis*/complications
Acidosis, Renal Tubular/*genetics
Vacuolar Proton-Translocating ATPases/*genetics
Acidosis, Renal Tubular/complications ; Adult ; Female ; Humans ; Recurrence
SCR Disease Name :
Renal tubular acidosis, distal, autosomal recessive
Czasopismo naukowe
Tytuł :
[Osteopetrosis, renal tubular acidosis, cerebral calcifications: a familial case].
Transliterated Title :
Osteopetrosis, acidosis tubular renal, calcificaciones cerebrales: caso familiar.
Autorzy :
Ortiz Madinaveitia S; Servicio Pediatría, Complejo Hospitalario Soria, Soria, España. Electronic address: .
Peña Busto A; Servicio Pediatría, Complejo Hospitalario Soria, Soria, España.
Kanaan Leis S; Servicio Pediatría, Complejo Hospitalario Soria, Soria, España.
García Valiente AI; Servicio Radiodiagnóstico, Complejo Hospitalario Soria, Soria, España.
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Źródło :
Anales de pediatria (Barcelona, Spain : 2003) [An Pediatr (Barc)] 2019 Oct; Vol. 91 (4), pp. 276-278. Date of Electronic Publication: 2018 Sep 05.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Elsevier España Country of Publication: Spain NLM ID: 101162596 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1695-9531 (Electronic) Linking ISSN: 16954033 NLM ISO Abbreviation: An Pediatr (Barc) Subsets: MEDLINE
MeSH Terms :
Acidosis, Renal Tubular/*diagnosis
Brain Diseases/*diagnosis
Calcinosis/*diagnosis
Osteopetrosis/*diagnosis
Acidosis, Renal Tubular/pathology ; Brain Diseases/pathology ; Calcinosis/pathology ; Child ; Humans ; Male ; Osteopetrosis/pathology
Czasopismo naukowe
Tytuł :
Cleistanthus collinus poisoning affects mitochondrial respiration and induces oxidative stress in the rat kidney.
Autorzy :
Kettimuthu KP; Division of Gastrointestinal Sciences, The Wellcome Trust Research Laboratory , Vellore , India.
Kini A; Center for Stem Cell Research , Vellore , India.
Manickam AS; Department of Physiology, Christian Medical College , Vellore , India.
Lourthuraj AA; Department of Physiology, Christian Medical College , Vellore , India.
Venkatraman A; Center for Stem Cell Research , Vellore , India.
Subramani S; Department of Physiology, Christian Medical College , Vellore , India.
Ramachandran A; Division of Gastrointestinal Sciences, The Wellcome Trust Research Laboratory , Vellore , India.
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Źródło :
Toxicology mechanisms and methods [Toxicol Mech Methods] 2019 Oct; Vol. 29 (8), pp. 561-568. Date of Electronic Publication: 2019 Jun 28.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Informa Healthcare Country of Publication: England NLM ID: 101134521 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6524 (Electronic) Linking ISSN: 15376516 NLM ISO Abbreviation: Toxicol. Mech. Methods Subsets: MEDLINE
MeSH Terms :
Acidosis, Renal Tubular/*chemically induced
Euphorbiaceae/*poisoning
Kidney/*drug effects
Mitochondria, Muscle/*drug effects
Oxidative Stress/*drug effects
Vacuolar Proton-Translocating ATPases/*metabolism
Acidosis, Renal Tubular/metabolism ; Animals ; Female ; HEK293 Cells ; Humans ; Kidney/metabolism ; Kidney/pathology ; Male ; Mitochondria, Muscle/metabolism ; Oxidative Phosphorylation ; Plant Extracts/poisoning ; Rats, Wistar
Czasopismo naukowe
Tytuł :
[Distal Renal Tubular Acidosis: Clinical Variability in the Same Family].
Transliterated Title :
Acidose Tubular Renal Distal: Expressão Clínica Variável na Mesma Família.
Autorzy :
Ramos D; Serviço de Pediatria Médica. Hospital Pediátrico de Coimbra. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal.
Reis S; Serviço de Pediatria. Centro Hospitalar Tondela-Viseu. Viseu. Portugal.
Cordinhã C; Unidade de Nefrologia Pediátrica. Hospital Pediátrico de Coimbra. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal.
Carmo C; Unidade de Nefrologia Pediátrica. Hospital Pediátrico de Coimbra. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal.
Gomes C; Unidade de Nefrologia Pediátrica. Hospital Pediátrico de Coimbra. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal.
Correia AJ; Unidade de Nefrologia Pediátrica. Hospital Pediátrico de Coimbra. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal.
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Źródło :
Acta medica portuguesa [Acta Med Port] 2019 Aug 01; Vol. 32 (7-8), pp. 542-545. Date of Electronic Publication: 2019 Aug 01.
Typ publikacji :
Case Reports
Journal Info :
Publisher: Centro Editor Livreiro da Ordem dos Médicos Country of Publication: Portugal NLM ID: 7906803 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1646-0758 (Electronic) Linking ISSN: 0870399X NLM ISO Abbreviation: Acta Med Port Subsets: MEDLINE
MeSH Terms :
Asymptomatic Diseases*
Family Health*
Acidosis, Renal Tubular/*diagnosis
Nephrocalcinosis/*diagnosis
Acidosis, Renal Tubular/drug therapy ; Acidosis, Renal Tubular/genetics ; Child ; Child, Preschool ; Female ; Humans ; Male ; Nephrocalcinosis/genetics ; Pedigree ; Siblings ; Urolithiasis/diagnosis ; Urolithiasis/genetics
Raport
Tytuł :
Renal tubular acidosis as the initial presentation of Sjögren's syndrome.
Autorzy :
Ho K; University of Saskatchewan College of Medicine, Saskatoon, Canada.
Dokouhaki P; University of Saskatchewan College of Medicine, Saskatoon, Canada.
McIsaac M; University of Saskatchewan College of Medicine, Saskatoon, Canada.
Prasad B; Regina General Hospital, Regina, Canada.
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Źródło :
BMJ case reports [BMJ Case Rep] 2019 Aug 13; Vol. 12 (8). Date of Electronic Publication: 2019 Aug 13.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE
MeSH Terms :
Acidosis, Renal Tubular/*diagnosis
Sjogren's Syndrome/*diagnosis
Acidosis, Renal Tubular/blood ; Acidosis, Renal Tubular/complications ; Acidosis, Renal Tubular/urine ; Adult ; Female ; Humans ; Hypokalemia/blood ; Hypokalemia/complications ; Hypokalemia/diagnosis ; Hypokalemia/urine ; Sjogren's Syndrome/blood ; Sjogren's Syndrome/complications ; Sjogren's Syndrome/urine ; Urinalysis
Czasopismo naukowe
Tytuł :
A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report.
Autorzy :
Yuan J; Endocrinology Department, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Huang K
Wu W
Zhang L
Dong G
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Źródło :
Medicine [Medicine (Baltimore)] 2019 Jul; Vol. 98 (30), pp. e16504.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: Core Clinical (AIM); MEDLINE
MeSH Terms :
Acidosis, Renal Tubular/*genetics
Acidosis/drug therapy ; Acidosis/etiology ; Acidosis, Renal Tubular/complications ; Acidosis, Renal Tubular/diagnosis ; China ; Female ; Homozygote ; Humans ; Hypokalemia/drug therapy ; Hypokalemia/etiology ; Infant ; Potassium Citrate/therapeutic use ; Sequence Deletion
Czasopismo naukowe
Tytuł :
Molecular Pathophysiology of Acid-Base Disorders.
Autorzy :
Wagner CA; Institute of Physiology, University of Zurich, Zurich, Switzerland; National Center for Competence in Research Kidney, Switzerland. Electronic address: .
Imenez Silva PH; Institute of Physiology, University of Zurich, Zurich, Switzerland; National Center for Competence in Research Kidney, Switzerland.
Bourgeois S; Institute of Physiology, University of Zurich, Zurich, Switzerland; National Center for Competence in Research Kidney, Switzerland.
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Źródło :
Seminars in nephrology [Semin Nephrol] 2019 Jul; Vol. 39 (4), pp. 340-352.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
Journal Info :
Publisher: W.B. Saunders Country of Publication: United States NLM ID: 8110298 Publication Model: Print Cited Medium: Internet ISSN: 1558-4488 (Electronic) Linking ISSN: 02709295 NLM ISO Abbreviation: Semin. Nephrol. Subsets: MEDLINE
MeSH Terms :
Acidosis, Renal Tubular/*genetics
Acidosis, Renal Tubular/*physiopathology
Acid-Base Equilibrium/genetics ; Acid-Base Equilibrium/physiology ; Acidosis, Renal Tubular/complications ; Ammonia/metabolism ; Animals ; Bicarbonates/metabolism ; Homeostasis/genetics ; Homeostasis/physiology ; Humans ; Kidney/metabolism
Czasopismo naukowe
Tytuł :
Extrarenal Signs of Proximal Renal Tubular Acidosis Persist in Nonacidemic Nbce1b/c-Null Mice.
Autorzy :
Salerno EE; Departments of Physiology and Biophysics and.
Patel SP; Ophthalmology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, The State University of New York, Buffalo, New York.; State University of New York Eye Institute, Buffalo, New York; and.; Research and Ophthalmology Services, VA Western New York Healthcare System, Buffalo, New York.
Marshall A; Departments of Physiology and Biophysics and.
Marshall J; Departments of Physiology and Biophysics and.
Alsufayan T; Departments of Physiology and Biophysics and.
Mballo CSA; Departments of Physiology and Biophysics and.
Quade BN; Departments of Physiology and Biophysics and.
Parker MD; Departments of Physiology and Biophysics and .; Ophthalmology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, The State University of New York, Buffalo, New York.; State University of New York Eye Institute, Buffalo, New York; and.
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Źródło :
Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2019 Jun; Vol. 30 (6), pp. 979-989. Date of Electronic Publication: 2019 Apr 30.
Typ publikacji :
Comparative Study; 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 :
Gene Expression Regulation*
Mutation, Missense*
Acidosis, Renal Tubular/*genetics
Acidosis, Renal Tubular/*mortality
Sodium-Bicarbonate Symporters/*genetics
Acidosis/metabolism ; Acidosis, Renal Tubular/physiopathology ; Acidosis, Respiratory/genetics ; Acidosis, Respiratory/mortality ; Analysis of Variance ; Animals ; Bicarbonates/metabolism ; Blood Gas Analysis ; Disease Models, Animal ; Mice ; Mice, Knockout ; Phenotype
Czasopismo naukowe
Tytuł :
Treatment and long-term outcome in primary distal renal tubular acidosis.
Autorzy :
Lopez-Garcia SC; Department of Paediatric Nephrology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.; Centre for Nephrology, University College London, London, UK.
Emma F; Division of Nephrology, Bambino Gesù Children's Hospital-IRCCS, Rome, Italy.
Walsh SB; Centre for Nephrology, University College London, London, UK.
Fila M; Pediatric Nephrology-CHU Arnaud de Villeneuve, Montpellier University Hospital, Montpellier, France.
Hooman N; Ali-Asghar Clinical Research Development Center, Iran University of Medical Sciences, Tehran, Iran.
Zaniew M; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland.
Bertholet-Thomas A; Centre de référence Maladies rénales rares, Bron, France.
Colussi G; ASST Niguarda, Milan, Italy.
Burgmaier K; Department of Pediatrics, University Hospital of Cologne, Cologne, Germany.
Levtchenko E; University Hospital Leuven, Leuven, Belgium.
Sharma J; King Edward Memorial Hospital, Pune, India.
Singhal J; King Edward Memorial Hospital, Pune, India.
Soliman NA; Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt.
Ariceta G; Hospital Universitario Vall d'Hebron, Barcelona, Spain.
Basu B; Division of Pediatric Nephrology, NRS Medical College, Kolkata, India.
Murer L; Pediatric Nephrology, Dialysis and Transplant Unit, Azienda Ospedaliera & University of Padova, Padova, Italy.
Tasic V; University Children's Hospital, Medical School, Skopje, Macedonia.
Tsygin A; National Medical and Research Centre for Children's Health, Moscow, Russia.
Decramer S; Centre Hospitalier Universitaire de Toulouse, Service de Nephrologie Pediatrique, Hopital des Enfants, Centre De Reference des Maladies Rénales Rares du Sud Ouest, Toulouse, France.
Gil-Peña H; Hospital Universitario Central de Asturias, Oviedo, Spain.
Koster-Kamphuis L; Radboud University Medical Centre, Nijmegen, The Netherlands.
La Scola C; Nephrology and Dialysis Unit, Department of Woman, Child and Urological Diseases, Azienda Ospedaliero-Universitaria Sant'Orsola-Malpighi, Bologna, Italy.
Gellermann J; Charité Universitätsmedizin Berlin, Berlin, Germany.
Konrad M; University Children's Hospital, Münster, Germany.
Lilien M; Wilhelmina Children's Hospital, University Medical Center, Utrecht, The Netherlands.
Francisco T; Centro Hospitalar de Lisboa Central, Lisbon, Portugal.
Tramma D; Fourth Pediatric Department, Aristotle University, Thessaloniki, Greece.
Trnka P; Lady Cilento Children's Hospital, Brisbane, Australia.; School of Medicine, the University of Queensland, Brisbane, Australia.
Yüksel S; Department of Pediatric Nephrology, Pamukkale University School of Medicine, Denizli, Turkey.
Caruso MR; Nephrology Unit Azienda Ospedaliera, Papa Giovani XXIII, Bergamo, Italy.
Chromek M; Karolinska Institutet, Lund University, Sweden.
Ekinci Z; Group Florence Nightingale Hospitals, İstanbul, Turkey.
Gambaro G; Fondazione Policlinico A. Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy.
Kari JA; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
König J; University Children's Hospital, Münster, Germany.
Taroni F; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.
Thumfart J; Charité Universitätsmedizin Berlin, Berlin, Germany.
Trepiccione F; Department of Translational Medical Sciences, University of Campania 'L. Vanvitelli', Naples, Italy.
Winding L; Pediatric Department, Lillebaelt Hospital Kolding, Kolding, Denmark.
Wühl E; Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University Hospital of Heidelberg, Heidelberg, Germany.
Ağbaş A; Haseki Education and Research Hospital, Istanbul, Turkey.
Belkevich A; Belarusian State Medical University, Minsk, Belarus.
Vargas-Poussou R; Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.
Blanchard A; Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.
Conti G; Pediatric Nephrology Unit, AOU Policlinic G Martino, Messina, Italy.
Boyer O; Necker Hospital, Paris, France.
Dursun I; Faculty of Medicine, Department of Pediatric Nephrology, Erciyes University, Kayseri, Turkey.
Pınarbaşı AS; Faculty of Medicine, Department of Pediatric Nephrology, Erciyes University, Kayseri, Turkey.
Melek E; Cukurova University, Adana, Turkey.
Miglinas M; Nephrology Centre, Santaros Klinikos, Vilnius University, Vilnius, Lithuania.
Novo R; University Hospital of Lille, France.
Mallett A; School of Medicine, the University of Queensland, Brisbane, Australia.; Department of Renal Medicine, Royal Brisbane and Women's Hospital, Brisbane, Australia.
Milosevic D; University Hospital Centre Zagreb, Zagreb, Croatia.
Szczepanska M; Department of Pediatrics, SMDZ in Zabrze, SUM in Katowice, Poland.
Wente S; Department of Pediatric Nephrology, Hannover Medical School, Hannover, Germany.
Cheong HI; Department of Pediatrics, Seoul University Children's Hospital, Seoul, Korea.
Sinha R; Institute of Child Health, Kolkata, India.
Gucev Z; Medical School, University Children's Hospital, Skopje, Macedonia.
Dufek S; Centre for Nephrology, University College London, London, UK.
Iancu D; Centre for Nephrology, University College London, London, UK.
Kleta R; Department of Paediatric Nephrology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.; Centre for Nephrology, University College London, London, UK.
Schaefer F; Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University Hospital of Heidelberg, Heidelberg, Germany.
Bockenhauer D; Department of Paediatric Nephrology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.; Centre for Nephrology, University College London, London, UK.
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Corporate Authors :
European dRTA Consortium
Źródło :
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2019 Jun 01; Vol. 34 (6), pp. 981-991.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Oxford University Press Country of Publication: England NLM ID: 8706402 Publication Model: Print Cited Medium: Internet ISSN: 1460-2385 (Electronic) Linking ISSN: 09310509 NLM ISO Abbreviation: Nephrol. Dial. Transplant. Subsets: MEDLINE
MeSH Terms :
Acidosis, Renal Tubular/*therapy
Hearing Loss, Sensorineural/*therapy
Acidosis, Renal Tubular/complications ; Acidosis, Renal Tubular/genetics ; Adolescent ; Adult ; Aged ; Bicarbonates/blood ; Calcium/urine ; Child ; Child, Preschool ; Cohort Studies ; DNA Mutational Analysis ; Deafness/complications ; Deafness/genetics ; Deafness/therapy ; Female ; Genetic Association Studies ; Glomerular Filtration Rate ; Hearing Loss, Sensorineural/complications ; Hearing Loss, Sensorineural/genetics ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Mutation ; Nephrocalcinosis/complications ; Nephrocalcinosis/genetics ; Nephrocalcinosis/therapy ; Rare Diseases/complications ; Vacuolar Proton-Translocating ATPases/genetics ; Young Adult
Czasopismo naukowe
Tytuł :
[Distal hereditary renal tubular acidosis, diagnosis in siblings: About 2 pediatric cases].
Transliterated Title :
Acidosis tubular renal distal hereditaria, diagnóstico en hermanos: A propósito de 2 casos pediátricos.
Autorzy :
Silva AM; Departamento de Pediatría, Hospital Alemán de Buenos Aires. .
Méndez J; Departamento de Pediatría, Hospital Alemán de Buenos Aires.
Piantanida JJ; Departamento de Nefrología Pediátrica, Hospital Alemán de Buenos Aires.
Hernández G; Departamento de Pediatría, Hospital Alemán de Buenos Aires.
Bois F; Unidad de Terapia Intermedia Pediátrica, Hospital de Niños Dr. Ricardo Gutiérrez, Buenos Aires.
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Źródło :
Archivos argentinos de pediatria [Arch Argent Pediatr] 2019 Jun 01; Vol. 117 (3), pp. e263-e269.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Sociedad Argentina de Pediatría Country of Publication: Argentina NLM ID: 0372460 Publication Model: Print Cited Medium: Internet ISSN: 1668-3501 (Electronic) Linking ISSN: 03250075 NLM ISO Abbreviation: Arch Argent Pediatr Subsets: MEDLINE
MeSH Terms :
Siblings*
Acidosis, Renal Tubular/*diagnosis
Acidosis, Renal Tubular/physiopathology ; Acidosis, Renal Tubular/therapy ; Child, Preschool ; Female ; Humans ; Infant, Newborn ; Male
Czasopismo naukowe
Tytuł :
Familial hyperkalemia and hypertension and a hypothesis to explain proximal renal tubular acidosis.
Autorzy :
Farfel Z; Department of Medicine E, Sheba Medical Center, Ramat Gan 52621, Israel; .; Laboratory of Biochemical Pharmacology, Sheba Medical Center, Ramat Gan 52621, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.; Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovoth 7610001, Israel.
Mayan H; Department of Medicine E, Sheba Medical Center, Ramat Gan 52621, Israel.; Laboratory of Biochemical Pharmacology, Sheba Medical Center, Ramat Gan 52621, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
Karlish SJD; Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovoth 7610001, Israel.
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Źródło :
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2019 Aug 13; Vol. 116 (33), pp. 16173-16174. Date of Electronic Publication: 2019 Aug 01.
Typ publikacji :
Letter; Comment
Journal Info :
Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc. Natl. Acad. Sci. U.S.A. Subsets: MEDLINE
MeSH Terms :
Acidosis, Renal Tubular*
Hyperkalemia*
Hypertension*
Aldosterone ; Chlorides ; Humans ; Protein-Serine-Threonine Kinases
Opinia redakcyjna
Tytuł :
Oral manifestations of renal tubular acidosis associated with secondary rickets: case report.
Autorzy :
Costa SA; Universidade Federal do Maranhão, Programa de Pós-Graduação em Odontologia, São Luís, MA, Brasil.
Souza SFC; Universidade Federal do Maranhão, Programa de Pós-Graduação em Odontologia, São Luís, MA, Brasil.
Nunes AMM; Universidade Federal do Maranhão, Faculdade de Odontologia, São Luís, MA, Brasil.
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Źródło :
Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia [J Bras Nefrol] 2019 Jul-Sep; Vol. 41 (3), pp. 433-435. Date of Electronic Publication: 2018 Sep 06.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Sociedade Brasileira de Nefrologia Country of Publication: Brazil NLM ID: 9426946 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2175-8239 (Electronic) Linking ISSN: 01012800 NLM ISO Abbreviation: J Bras Nefrol Subsets: MEDLINE
MeSH Terms :
Acidosis, Renal Tubular/*pathology
Dental Enamel Hypoplasia/*etiology
Open Bite/*etiology
Rickets/*complications
Tooth, Impacted/*etiology
Acidosis, Renal Tubular/complications ; Adolescent ; Amelogenesis ; Female ; Humans ; Radiography, Panoramic ; Rickets/etiology
Czasopismo naukowe
Tytuł :
Presence of serum autoantibodies to vacuolar H -ATPase in patients with renal tubular acidosis.
Autorzy :
Xu C; Department of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China.; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan, Shandong, China.; Shandong Clinical Medical Center of Endocrinology and Metabolism, Jinan, Shandong, China.
Li Y; Department of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China.; Department of Medical Ultrasound, Yangpu Hospital, Tongji University School of Medicine, Shanghai, China.
Ying H; Department of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China.; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan, Shandong, China.; Shandong Clinical Medical Center of Endocrinology and Metabolism, Jinan, Shandong, China.
Pan Y; Department of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China.; Department of Medical Ultrasound, Yantai Yuhuangding Hospital, Yantai, Shandong, China.
Shi R; Department of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China.; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan, Shandong, China.; Shandong Clinical Medical Center of Endocrinology and Metabolism, Jinan, Shandong, China.
Lin X; Department of Pathology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China.
Gao L; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan, Shandong, China.; Scientific Center, Shandong Provincial Hospital affiliated to Shandong University, Jinan, Shandong, China.
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Źródło :
International journal of rheumatic diseases [Int J Rheum Dis] 2019 May; Vol. 22 (5), pp. 805-814. Date of Electronic Publication: 2019 Mar 01.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Wiley on behalf of the Asia Pacific League of Associations for Rheumatology Country of Publication: England NLM ID: 101474930 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1756-185X (Electronic) Linking ISSN: 17561841 NLM ISO Abbreviation: Int J Rheum Dis Subsets: MEDLINE
MeSH Terms :
Autoimmunity*
Acidosis, Renal Tubular/*immunology
Autoantibodies/*blood
Kidney Tubules/*immunology
Sjogren's Syndrome/*immunology
Vacuolar Proton-Translocating ATPases/*immunology
Acidosis, Renal Tubular/blood ; Acidosis, Renal Tubular/enzymology ; Adolescent ; Adult ; Biomarkers/blood ; Case-Control Studies ; Female ; Humans ; Kidney Tubules/enzymology ; Male ; Middle Aged ; Sjogren's Syndrome/blood ; Young Adult
Czasopismo naukowe
Tytuł :
Distal renal tubular acidosis and severe hypokalemia: a case report and review of the literature.
Autorzy :
Vasquez-Rios G; Department of Internal Medicine, St. Louis University School of Medicine, St. Louis, MO, USA. .
Westrich DJ Jr; Department of Internal Medicine, St. Louis University School of Medicine, St. Louis, MO, USA.
Philip I; St. Louis University School of Medicine, St. Louis, MO, USA.
Edwards JC; Nephrology Division, Department of Internal Medicine, St. Louis University, St. Louis, MO, USA.
Shieh S; Nephrology Division, Department of Internal Medicine, St. Louis University, St. Louis, MO, USA.; Division of Nephrology, VA St. Louis Health Care System, St. Louis, MO, USA.
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Źródło :
Journal of medical case reports [J Med Case Rep] 2019 Apr 26; Vol. 13 (1), pp. 103. Date of Electronic Publication: 2019 Apr 26.
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 :
Acidosis, Renal Tubular/*diagnosis
Hypokalemia/*diagnosis
Potassium/*therapeutic use
Sjogren's Syndrome/*diagnosis
Sodium Bicarbonate/*therapeutic use
Trace Elements/*therapeutic use
Acid-Base Equilibrium ; Acidosis, Renal Tubular/drug therapy ; Acidosis, Renal Tubular/physiopathology ; Disease Progression ; Female ; Glomerular Filtration Rate ; Humans ; Hypokalemia/drug therapy ; Immunomodulation ; Middle Aged ; Sjogren's Syndrome/drug therapy ; Sjogren's Syndrome/physiopathology ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Renal Tubular Acidosis Presenting as Nephrogenic Diabetes Insipidus.
Autorzy :
Das D; Department of Pediatrics, Apollo Gleneagles Hospitals, 58, Canal Circular Road, Kolkata, India. Correspondence to: Dr Debaditya Das, PGY-3 DNB Pediatrics, Apollo Gleneagles Hospital, Kolkata, India. .
Sinha R; Department of Pediatrics, Apollo Gleneagles Hospitals, 58, Canal Circular Road, Kolkata, India.
Dey S; Department of Pediatrics, Apollo Gleneagles Hospitals, 58, Canal Circular Road, Kolkata, India.
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Źródło :
Indian pediatrics [Indian Pediatr] 2019 Apr 15; Vol. 56 (4), pp. 325-327.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Indian Pediatrics Country of Publication: India NLM ID: 2985062R Publication Model: Print Cited Medium: Internet ISSN: 0974-7559 (Electronic) Linking ISSN: 00196061 NLM ISO Abbreviation: Indian Pediatr
MeSH Terms :
Acidosis, Renal Tubular*/complications
Acidosis, Renal Tubular*/genetics
Diabetes Insipidus, Nephrogenic*/etiology
Diabetes Insipidus, Nephrogenic*/genetics
Amino Acid Transport Systems, Neutral/genetics ; Female ; Humans ; Infant ; Mutation/genetics ; Vacuolar Proton-Translocating ATPases/genetics
Czasopismo naukowe
Tytuł :
[Accidentally diagnosed distal renal tubular acidosis with nephrocalcinosis - a case report].
Transliterated Title :
Przypadkowo rozpoznana kwasica kanalikowa dystalna z nefrokalcynozą – opis przypadku.
Autorzy :
Turczyn A; Medical University of Warsaw, Poland: Department of Pediatrics and Nephrology.
Skrzypczyk P; Medical University of Warsaw, Poland: Department of Pediatrics and Nephrology.
Mizerska-Wasiak M; Medical University of Warsaw, Poland: Department of Pediatrics and Nephrology.
Brzewski M; Medical University of Warsaw, Poland: Department of Pediatric Radiology.
Pańczyk-Tomaszewska M; Medical University of Warsaw, Poland: Department of Pediatrics and Nephrology.
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Źródło :
Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego [Pol Merkur Lekarski] 2019 Mar 28; Vol. 46 (273), pp. 146-148.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: MEDPRESS Country of Publication: Poland NLM ID: 9705469 Publication Model: Print Cited Medium: Print ISSN: 1426-9686 (Print) Linking ISSN: 14269686 NLM ISO Abbreviation: Pol. Merkur. Lekarski Subsets: MEDLINE
MeSH Terms :
Acidosis, Renal Tubular*/diagnosis
Acidosis, Renal Tubular*/genetics
Hypokalemia*/diagnosis
Nephrocalcinosis*/diagnosis
Nephrocalcinosis*/genetics
Child, Preschool ; Glomerular Filtration Rate ; Humans ; Male ; Mutation
Czasopismo naukowe

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