European Journal of Pediatrics

, Volume 171, Issue 3, pp 471–478

Liddle syndrome in a Serbian family and literature review of underlying mutations

  • Radovan Bogdanović
  • Vladimir Kuburović
  • Nataša Stajić
  • Sadaf S. Mughal
  • Alina Hilger
  • Sanja Ninić
  • Sergej Prijić
  • Michael Ludwig
Original Paper

DOI: 10.1007/s00431-011-1581-8

Cite this article as:
Bogdanović, R., Kuburović, V., Stajić, N. et al. Eur J Pediatr (2012) 171: 471. doi:10.1007/s00431-011-1581-8

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. Conclusion: Liddle syndrome should be considered as a cause of hypertension in children or adolescents particularly with suppressed renin activity. Early diagnosis and appropriately tailored treatment avoid complications of long-term unrecognized or inappropriately managed hypertension.

Keywords

Liddle syndrome Mutations Hypertension Renin Aldosterone Children Adolescents 

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Radovan Bogdanović
    • 1
    • 2
  • Vladimir Kuburović
    • 2
  • Nataša Stajić
    • 2
  • Sadaf S. Mughal
    • 3
  • Alina Hilger
    • 3
  • Sanja Ninić
    • 2
  • Sergej Prijić
    • 2
  • Michael Ludwig
    • 4
  1. 1.Medical FacultyUniversity of BelgradeBelgradeSerbia
  2. 2.Institute of Mother and Child Healthcare of Serbia “Dr Vukan Čupić”BelgradeSerbia
  3. 3.Institute of Human GeneticsUniversity of BonnBonnGermany
  4. 4.Department of Clinical Chemistry and Clinical PharmacologyUniversity of BonnBonnGermany