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.To read this article in full you will need to make a payment
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Article info
Publication history
Accepted:
November 27,
2002
Received in revised form:
November 18,
2002
Received:
June 26,
2002
Footnotes
☆This research was supported by grants from INSERM (APEX 1999 #4X016E), the European Section of the Aldosterone Council, and the Club des Jeunes Hypertensiologues, Paris, France. Dr. Disse-Nicodème received a fellowship from Association Claude Bernard and from the Ministère de l’Education Nationale, de la Recherche et de la Technologie, Paris, France.
Identification
Copyright
© 2003 Excerpta Medica Inc. Published by Elsevier Inc. All rights reserved.
