Familial hyperkalemic hypertension: phenotypic analysis in a large family with the WNK1 deletion mutation.
2003
The familial hyperkalemic hypertension syndromes (1,2), also referred to as Gordon syndrome (3) or pseudohypoaldosteronism type 2 (4), are rare, autosomal dominant forms of hyperkalemia characterized by impaired renal potassium secretion, hyperchloremic metabolic acidosis, hypertension, and a normal glomerular filtration rate. Patients with these syndromes respond to treatment with thiazide diuretics. Recently, deletions (WNK1) and missense mutations (WNK4) in the genes for a novel family of serine/threonine kinases— WNK (With No Lysine [K]) (5)— have accounted for the disease in different families (6). In this report, we describe the phenotypic manifestations of the intronic deletion of WNK1 in a large French pedigree, including 17 patients with the mutation and 32 unaffected relatives.
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
25
References
51
Citations
NaN
KQI