Year: 2025
Type: article
Study design: Case Report
Abstract: 本文报道一例由CLCNKB基因变异导致的成人型Bartter综合征3型病例，丰富了该病的基因变异谱和临床表型数据库。尽管此突变位点非首次报道，但每新增一例报道均有助于加深对Bartter综合征临床异质性的理解。This article reports a case of adult-onset Bartter syndrome type 3 caused by a variant in the CLCNKB gene, enriching the genetic variant spectrum and clinical phenotype database of this disease. Although this mutation site has been reported previously, each additional case report contributes to a deeper understanding of the clinical heterogeneity of Bartter syndrome.
Source: Medical Diagnosis
Author: 浩明 施
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4411618812