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Liddle syndrome in a Turkish family with heterogeneous phenotypes
Author(s) -
Büyükkaragöz Bahar,
Yilmaz Aysun Caltik,
Karcaaltincaba Deniz,
Ozdemir Osman,
Ludwig Michael
Publication year - 2016
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12985
Subject(s) - medicine , hypokalemia , aldosterone , pediatrics , disease , incidence (geometry) , inherited disease , family history , metabolic alkalosis , differential diagnosis , phenotype , rare disease , endocrinology , pathology , genetics , gene , physics , optics , biology
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.