Genotype-phenotype analysis of three families with Liddle syndrome
10.3760/cma.j.cn311282-20240108-00014
- VernacularTitle:3个Liddle综合征家系基因型、临床表型分析及随访
- Author:
Dong WANG
1
;
Yan ZHANG
;
Min LUO
;
Ji NIE
;
Qiao ZHANG
;
Lixin SHI
;
Danrong WU
Author Information
1. 贵黔国际总医院内分泌代谢科，贵阳 550018
- Keywords:
Liddle syndrome;
Hypertension;
Hypokalemia;
Genetic diagnosis
- From:
Chinese Journal of Endocrinology and Metabolism
2024;40(5):393-397
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genotypes and clinical phenotypes of three families with Liddle Syndrome(LS).Methods:In this study, three young patients with hypertension and hypokalemia were confirmed LS through second-generation sequencing genetic testing. Members of the three families were screened for genes, and genotypes and clinical phenotypes were analyzed.Results:This study identified three patients in Family 1 carrying a possible pathogenic heterozygous variant c. 1859A>G(p.Y620C) in the SCNN1B gene(sodium channel epithelia 1β subunit). Five patients in family 2 and family 3 carried the pathogenic heterozygous variant c. 1789dup(p.R597Pfs*11) in the SCNN1B gene. Following three months of treatment with salt restriction and triamterene, blood pressure and potassium levels returned to normal in all eight patients.Conclusion:LS patients typically present clinically with early-onset hypertension accompanied by hypokalemia, but there is clinical heterogeneity. It is recommended to conduct genetic testing on suspected patients as early as possible to confirm the diagnosis and initiate timely treatment with effective medications so as to reduce the complications of target organs.
