Liddle syndrome in a Turkish family with heterogeneous phenotypes

Buyukkaragoz B., Yilmaz A. C., Karcaaltincaba D., Ozdemir O., Ludwig M.

PEDIATRICS INTERNATIONAL, vol.58, no.8, pp.801-804, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 58 Issue: 8
  • Publication Date: 2016
  • Doi Number: 10.1111/ped.12985
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.801-804
  • Keywords: children, hypertension, Liddle syndrome, phenotype, EPITHELIAL SODIUM-CHANNEL, BETA-SUBUNIT, HYPERTENSION, MUTATION
  • Gazi University Affiliated: Yes


Liddle syndrome (LS) is a familial disease characterized by early onset hypertension (HT). Although regarded as rare, its incidence may be greater than expected because the classical findings of hypokalemic metabolic alkalosis with suppressed renin and aldosterone levels are not consistently present. Herein, we present the case of an adolescent boy and maternal relatives who were followed up with misdiagnosis of essential HT for a long duration. Clinical diagnosis of LS was confirmed on genetic analysis. Despite carrying the same mutation, the index patient and the family members manifested heterogeneous phenotypes of the disease including age at presentation, degree of HT, presence of hypokalemia and renal/cardiac complications. LS should be considered in the differential diagnosis of HT in children with a strong family history of HT resistant to conventional treatment; and genetic screening should be performed in these circumstances.