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- Title
Liddle syndrome in a Serbian family and literature review of underlying mutations.
- Authors
Bogdanović, Radovan; Kuburović, Vladimir; Stajić, Nataša; Mughal, Sadaf S; Hilger, Alina; Ninić, Sanja; Prijić, Sergej; Ludwig, Michael
- Abstract
Severe and reproducible low-renin hypertension responsive to salt restriction and amiloride-thiazide therapy in a 13-year-old otherwise asymptomatic boy suggested Liddle syndrome. This assumption was strengthened by a positive family history of hypertension poorly responsive to conventional treatment or sudden deaths under 40 years of age in four generations. DNA analysis of the beta and gamma subunits of the epithelial sodium channel revealed a heterozygous mutation c.C1852T (p.Pro618Ser) in the SCNN1B gene in the patient and in both his hypertensive mother and uncle. A PubMed search revealed 21 different disease-causing mutations reported to date, all but two clustering in the cytoplasmic C-terminal regions of either beta (16 mutations) or gamma (5) subunit, leading to a three- to eightfold increase in the amiloride-sensitive sodium current. Inter- and intrafamilial variability in both hypertension and hypokalemia were disclosed, which may not be obligatory among the subjects carrying a Liddle mutation.
- Publication
European journal of pediatrics, 2012, Vol 171, Issue 3, p471
- ISSN
1432-1076
- Publication type
Journal Article
- DOI
10.1007/s00431-011-1581-8