A case report of three children with secondary hypertension caused by Liddle syndrome

Abstract

Background: Liddle syndrome is a monogenetic cause of early-onset hypertension that is associated with hypokalemia and metabolic alkalosis that is inherited in an autosomal dominant fashion with variable penetrance. Case presentation: We present a case report of three children seen at a tertiary children's hospital with varying severity of hypertension and electrolyte disturbances, who had genetic testing performed due to strong family history of hypertension. They were each subsequently found with the same genetic mutation of SCNN1B consistent with Liddle syndrome and started on epithelial sodium channel inhibitors with improvement in their blood pressure. Conclusion: Due to its variable penetrance, Liddle syndrome can have varying severity of blood pressure and electrolyte disturbances. Prompt recognition of Liddle syndrome is important to prevent cardiovascular complications from uncontrolled hypertension.

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

“…Teoh et al reported three cases of Liddle from Department of Pediatrics, University of Louisville, Kentucky USA with almost similar age group and clinical pictures as our case 8. Patel and Kuriacose reported a case of Liddle syndrome from Johnson City, Tennessee USA, but the age of the patient was 48 years 2.…”

“…However, children presenting with hypertension along with electrolyte imbalance should raise suspicion of monogenic causes of hypertension, which include Liddle syndrome, Gordon syndrome and familial hyperaldosteronism. 8 These disorders are called monogenic because they are caused by single gene mutations, which are inherited in Mandelian pattern. 8,9 To investigate further, serum renin and aldosterone should be checked.…”

“…8 These disorders are called monogenic because they are caused by single gene mutations, which are inherited in Mandelian pattern. 8,9 To investigate further, serum renin and aldosterone should be checked. Serum renin level is decreased uniformly in all these diseases; however, serum aldosterone is decreased in Liddle syndrome in contrast to others.…”

“…Serum renin level is decreased uniformly in all these diseases; however, serum aldosterone is decreased in Liddle syndrome in contrast to others. 8,9 Literature search revealed that only one case of Liddle syndrome has been reported in Pakistan by Aziz et al in 2016 in a 10-month-old female. 3 Another research carried out by Gilani et al in Rawalpindi, Pakistan reported 80 cases of young hypertensives with renin-angiotensin-aldosterone disorders, but they did not find any case of Liddle syndrome in their cohort.…”

Low renin forms of monogenic hypertension: review of the evidence

“…Treatment of hypertension involves dietary sodium limitations and ENaC blockers such as amiloride and triamterene [28,46].…”