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Tytuł pozycji:

A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4.

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.
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
Język:
English
Imprint Name(s):
Original Publication: [Hoboken, NJ] : John Wiley & Sons, [2013]-
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
References:
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Contributed Indexing:
Keywords: WNK4; D564N; familial case; pseudohypoaldosteronism type II
Substance Nomenclature:
0 (Antihypertensive Agents)
0 (Diuretics)
EC 2.7.11.1 (Protein Serine-Threonine Kinases)
EC 2.7.11.1 (WNK4 protein, human)
Q58C92TUN0 (Trichlormethiazide)
Entry Date(s):
Date Created: 20190503 Date Completed: 20200526 Latest Revision: 20211204
Update Code:
20240105
PubMed Central ID:
PMC6565545
DOI:
10.1002/mgg3.705
PMID:
31044551
Czasopismo naukowe
Background: There have been still few case reports of pseudohypoaldosteronism type II (PHA2), also known as Gordon's syndrome, genetically diagnosed, and this is the first report of familial PHA2 case in Japan with a novel D564N mutation in WNK4.
Methods: A 29-year-old woman was admitted to our hospital due to hyperkalemia (serum potassium: 6.4 mmol/L). She had mild hypertension (135/91 mm Hg), a bicarbonate level at the lower limit of the normal range (HCO 3 : 22 mmol/L) with a normal anion gap, low plasma renin activity (0.2 ng ml -1  hr -1 ), and high urinary calcium excretion (505.4 mg/g Cre). A hereditary condition was suspected because her mother also had the same symptoms. We performed a comprehensive genetic analysis for major inherited kidney diseases with next-generation sequencing including the genes responsible for PHA2 (WNK1, WNK4, KLHL3, and CUL3).
Results: Genetic analysis revealed that the patient and her mother had a novel missense mutation (D564N) in the acidic motif in WNK4, which leads to the diagnosis of PHA2. Administration of trichlormethiazide (1 mg/day) effectively ameliorated her blood pressure (114/69 mm Hg), plasma bicarbonate (25 mmol/L), serum potassium (4.3 mmol/L), and urinary calcium excretion (27.2 mg/g Cre).
Conclusion: We report the first Japanese familial case of PHA2 with WNK4 mutation. D564N mutation in WNK4 is a novel genetic cause of PHA2 with a relatively mild phenotype.
(© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)
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