منابع مشابه
A molecular update on pseudohypoaldosteronism type II.
The DCT (distal convoluted tubule) is the site of microregulation of water reabsorption and ion handling in the kidneys, which is mainly under the control of aldosterone. Aldosterone binds to and activates mineralocorticoid receptors, which ultimately lead to increased sodium reabsorption in the distal part of the nephron. Impairment of mineralocorticoid signal transduction results in resistanc...
متن کاملMechanisms of type I and type II pseudohypoaldosteronism.
Pseudohypoaldosteronism (PHA) types I and II are curious genetic disorders that share hyperkalemia as a predominant finding. Together they have become windows to understanding new molecular physiology in the kidney. Autosomal recessive PHAI results from mutations in the epithelial sodium channel (ENaC), whereas autosomal dominant PHAI is characterized by mutations in the mineralocorticoid recep...
متن کاملPseudohypoaldosteronism type II: history, arguments, answers, and still some questions.
Questions Pseudohypoaldosteronism Type II: History, Arguments, Answers, and Still Some Print ISSN: 0194-911X. Online ISSN: 1524-4563 Copyright © 2014 American Heart Association, Inc. All rights reserved. is published by the American Heart Association, 7272 Greenville Avenue, Dallas, TX 75231 Hypertension doi: 10.1161/HYPERTENSIONAHA.113.02187 2014;63:648-654; originally published online January...
متن کاملA young child with pseudohypoaldosteronism type II by a mutation of Cullin 3
BACKGROUND Pseudohypoaldosteronism type II (PHA II), also referred to as Gordon syndrome, is a rare renal tubular disease that is inherited in an autosomal manner. Though mutations in WNK1 and WNK4 partially account for this disorder, in 2012, 2 research groups showed that KLHL3 and CUL3 were the causative genes for PHA II. Here, we firstly report on the Japanese child of PHA II caused by a mut...
متن کاملAn inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II).
Mutations in the novel serine/threonine WNK [With No lysine (=K)] kinases WNK1 and WNK4 cause PHAII (pseudohypoaldosteronism type II or Gordon's syndrome), a rare monogenic syndrome which causes hypertension and hyperkalaemia on a background of a normal glomerular filtration rate. Current animal models for PHAII recapitulate some aspects of the disease phenotype, but give no clues to how rapidl...
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ژورنال
عنوان ژورنال: Hypertension
سال: 2014
ISSN: 0194-911X,1524-4563
DOI: 10.1161/hypertensionaha.113.02187