Clin Lab. 2024 Aug 1;70(8). doi: 10.7754/Clin.Lab.2024.240211.
Type III Bartter syndrome (BS) is an autosomal recessive renal tubular disease caused by the mutation of the chloride voltage-gated channel Kb (CLCNKB) gene. This condition is characterized by renal sodium loss, hypokalemia, metabolic alkaliosis, high renin, and high aldosterone levels.
We report a case of adult type III BS caused by a novel complex heterozygous mutation of the CLCNKB gene. The peripheral blood was extracted for whole genome DNA extraction, and the genome exon region of BS- related genes, was predicted by high-throughput sequencing and protein function prediction software. The selected mutation sites were verified by sequencing with Sanger method.
The new complex heterozygous mutations of CLCNKB include heterozygous deletion of exon 2 - 20 of CLCNKB and nonsense mutation of exon 19, c.2010G>A (p.W670X). This complex heterozygous mutation has not been reported in humans.
For patients with high clinical suspicion of BS, a clear diagnosis should be made through genetic test-ing to improve patients' quality of life and provide genetic guidance.
III 型巴特综合征（BS）是一种常染色体隐性遗传性肾小管疾病，由氯离子电压门控通道 Kb（CLCNKB）基因突变引起。这种情况的特征是肾脏钠丢失、低钾血症、代谢性碱中毒、肾素高和醛固酮水平高。
我们报告了一例由 CLCNKB 基因新型复合杂合突变引起的成人 III 型 BS。从外周血中提取全基因组 DNA，通过高通量测序和蛋白质功能预测软件预测 BS 相关基因的基因组外显子区域。通过 Sanger 法测序验证所选突变位点。
CLCNKB 的新复合杂合突变包括 CLCNKB 外显子 2-20 的杂合缺失和外显子 19 的无义突变，c.2010G>A（p.W670X）。这种复杂的杂合突变尚未在人类中报道过。
对于高度怀疑 BS 的患者，应通过基因检测明确诊断，以提高患者的生活质量并提供遗传指导。
