Liddle syndrome: case report and literature review

Abstract

The clinical data and the genetic study results of a patient with Liddle syndrome were reported. The genomic DNA of peripheral blood mononuclear cells was extracted and the mutation sites of all the exons in 36 genes related to hypokalemia were screened by high-throughput sequencing. Genetic validation of patients and their parents was performed by direct sequencing. The patient presented with severe hypokalemia, low aldosterone and hypertension. The results of gene sequencing showed that the SCNN1B gene exon 13 584 codon 1751C-T, and the corresponding encoded amino acid changed from alanine to valine (A-V). Eleven families and 33 cases of Liddle syndrome diagnosed by genetic analysis were reported in Chinese literature from 1998 to June 2018. The literature review showed that all patients had hypertension, 87% (28/32) had hypokalemia and 85% (23/27) had low aldosterone. The onset age of 21 patients was<20 year, among whom cerebral stroke occurred in 3 patients. The normal blood pressure can be achieved by low-salt diet and administration of amiloride or triamterene. The most common mutations were missense mutations (7/11). Liddle syndrome is a controllable and treatable disease, early detection, diagnosis and treatment can avoid serious complications. Key words: Liddle syndrome; SCNN1B; Hypertension; Hypokalemia