Liddle syndrome in a Turkish family with heterogeneous phenotypes.
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.
Department of Pediatric Nephrology, Keciören Research and Training Hospital, Ankara, Turkey.
Bahar
B
Büyükkaragöz
Department of Pediatric Nephrology, Keciören Research and Training Hospital, Ankara, Turkey.
Aysun Caltik
AC
Yilmaz
Department of Obstetrics and Gynecology, Gazi University, Ankara, Turkey.
Deniz
D
Karcaaltincaba
Department of Pediatric Cardiology, Keciören Research and Training Hospital, Ankara, Turkey.
Osman
O
Ozdemir
Department of Clinical Biochemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.
Michael
M
Ludwig
D000293:Adolescent; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D053503:Epithelial Sodium Channels / Q000235:genetics* / Q000378:metabolism; D005820:Genetic Testing; D006801:Humans; D056929:Liddle Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D008297:Male; D010375:Pedigree; D010641:Phenotype
D053503:Epithelial Sodium Channels; C507048:SCNN1B protein, human; D004247:DNA
Liddle syndrome; children; hypertension; phenotype