Liddle Syndrome in a Six-Year-Old Girl: A Case Report

Abstract

Liddle syndrome is a cause of hypertension among children due to mutation in the epithelial sodium channels (ENaC) located in the kidneys. It typically presents with hypertension, hypokalemia, metabolic alkalosis with low renin and aldosterone levels. Although, most cases are children, but adults also present with this disorder owing to late diagnosis. Amiloride and triamterene efficiently improve the condition. Here we present the case of a 6-year-old girl admitted with history of hypertension, diarrhea, vomiting, weakness and palpitations on and off for the last four years. Laboratory investigations revealed metabolic alkalosis, decreased renin and aldosterone levels, hypokalemia and an inverted T wave, U wave and prolonged QT interval on ECG. Any pediatric case presenting with hypertension and electrolyte imbalance should promptly raise suspicion of Liddle syndrome. Timely diagnosis and management play a key role in reducing morbidity and mortality.

Low renin forms of monogenic hypertension: review of the evidence

“…Mutations in the subunits of the ENaCs reduce the rate at which these channels are degraded, leading to increased sodium and water reabsorption and account for hypertension in these patients [42]. Other typical features include hypokalemia, metabolic alkalosis, low serum renin and aldosterone levels [43].…”

“…Other typical features include hypokalemia, metabolic alkalosis, low serum renin and aldosterone levels [43]. Long-term complications result from hypertension-related organ damage, such as retinopathy, encephalopathy, nephrocalcinosis, cerebrovascular ischemia, left ventricular hypertrophy, and myocardial infarction [42,44]. Genetic testing allows for early diagnosis of Liddle syndrome and subsequent management [45].…”