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Pseudohypoaldosteronism Type Ⅱ Caused by CUL3 Mutation Presented with Visual Impairment
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- Author:
- No author available
- Journal Title:
- Chinese Medical Journal
- Issue:
- 15
- DOI:
- 10.4103/0366-6999.237397
- Key Word:
- No keyword available
Abstract： To the Editor:Pseudohypoaldosteronism Type Ⅱ (PHAⅡ),also known as Gordon syndrome,is a rare autosomal disease,caused by mutations in WNK1,WNK4,CUL3,or KLHL3 genes.Hitherto,about 200 individuals and families have been reported with PHAⅡ;of these,26 were caused by CUL3 mutation.[1,2] In pediatrics,hyperkalemia-complicated hypertension is rare,and PHAⅡ should be considered in this condition.
- [1]Mayan H,Munter G,Shaharabany M,etc.Hypercalciuria in Familial Hyperkalemia and Hypertension Accompanies Hyperkalemia and Precedes Hypertension: Description of a Large Family with the Q565E WNK4 Mutation.[J].2004,89(8).
- [2]Lynn M. Boyden,Murim Choi,Keith A. Choate,etc.Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities[J].2012,482(Feb.2 TN.7383).