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Mutations in the carboxy terminus of the β and γ subunits of the epithelial sodium channel are not present in patients with hypertensive crisis
Author(s) -
Manuela Födinger,
MM Hirschl,
Dagmar Schedler,
Harald Herkner,
Andreas Bur,
Anton N. Laggner,
Walter H. Hörl,
Gere SunderPlassmann
Publication year - 1998
Publication title -
european journal of clinical investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.164
H-Index - 107
eISSN - 1365-2362
pISSN - 0014-2972
DOI - 10.1046/j.1365-2362.1998.00369.x
Subject(s) - epithelial sodium channel , aldosterone , plasma renin activity , medicine , renin–angiotensin system , blood pressure , endocrinology , cohort , mutation , gene , aldosterone synthase , stop codon , hypertensive emergency , sodium , biology , chemistry , genetics , organic chemistry
Background The pathophysiology of hypertensive crises is poorly understood. To date, no information is available about genetic determinants underlying the individual risk for development of hypertensive urgencies or emergencies. Recently, mutations in the β subunit (hβENaC) and the γ subunit (hγENaC) of the human epithelial sodium channel (hENaC) have been shown to result in excessive elevation of blood pressure in patients with Liddle's syndrome. Methods Using polymerase chain reaction and direct sequencing of amplification products we have screened 90 consecutive out‐patients with hypertensive urgency or hypertensive emergency for the presence of mutations in the carboxy terminus of these genes. Furthermore, serum potassium concentrations were determined in all 90 patients, and serum aldosterone levels and plasma renin activity were measured in a subset of 34 patients. Results Among 71 patients with hypertensive urgency (78.9%) and 19 patients with hypertensive emergency (21.1%) not one individual showed a mutation in genomic DNA extending from codon 532 to codon 637 of hβENaC and from codon 525 to codon 651 of hγENaC. Twelve of 90 patients showed mild hypokalaemia (13.3%), 16 of 34 patients had a plasma renin activity below the lower normal range (47.1%) and one of 34 patients had a low serum aldosterone concentration (2.9%). Conclusions The present study clearly demonstrates the absence of mutations in the carboxy terminus of the hβENaC and hγENaC gene of hENaC in an Austrian cohort of 90 patients suffering from hypertensive crisis.