Article
Hypercalciuria in familial hyperkalemia and hypertension accompanies hyperkalemia and precedes hypertension: description of a large family with the Q565E WNK4 mutation.
The Journal of clinical endocrinology and metabolism - 1 Aug 2004
Mayan Haim, Munter Gabriel, Shaharabany Miriam, Mouallem Meir, Pauzner Rachel, Holtzman Eliezer J, Farfel Zvi
Abstract excerpt
Familial hyperkalemia and hypertension (FHH; pseudohypoaldosteronism type II) is an autosomal dominant disorder characterized by hyperkalemia, hypertension, and low renin. WNK1 kinase overexpression and WNK4 kinase inactivating missense mutations cause FHH. When expressed in frog oocyte, WNK4 inhibits Na-Cl cotransporter surface expression, and WNK1 relieves this inhibition. We have reported hypercalciuria in...
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