Clin Lab. 2024 Oct 1;70(10). doi: 10.7754/Clin.Lab.2024.240516.
Renal hypokalemia is associated with mutation. This study aimed to investigate the clinical features and pathogenic mutations in patients with renal hypokalemia.
The patients with hypokalemia were enrolled, and the renal function, thyroid function, renin-aldosterone system, urinary potassium excretion, and exome sequencing were performed. The correlation between the clinical phenotypes and causative genes was assessed.
Five patients with hypokalemia were enrolled and diagnosed as tubular hypokalemia. The patients with common clinical manifestations were difficult to differentiate based on atypical laboratory findings. The results of the genetic analysis were as follows: both patient 1 and patient 2 were heterozygous for the c.C625T mutation of the KCNJ1 gene, which is responsible for Bartter syndrome. Patient 3 was heterozygous for the c.G298A mutation of the ATP6V1B1 gene, which is responsible for renal tubular acidosis. Patient 4 had a compound heterozygous mutation of c.G893A of the BSND gene, responsible for Bartter syndrome, and c.1029+5G>A, the ATP6V0A4 gene responsible for distal renal tubular acidosis. Patient 5 had Gitelman syndrome and carried the compound heterozygous mutations c.C1963T and c.G2029A of the SLC12A3 gene. All the above loci were known heterozygous mutations.
The unusual heterozygous mutations were identified in five renal hypokalemia patients. Molecular diagnosis of tubular hypokalemia was conducive to accurate diagnosis and treatment.
肾脏低钾血症与突变有关。本研究旨在探讨肾脏低钾血症患者的临床特征和致病突变。
纳入低钾血症患者，进行肾功能、甲状腺功能、肾素-血管紧张素系统、尿钾排泄和外显子组测序。评估临床表型与致病基因之间的相关性。
纳入 5 例低钾血症患者，诊断为肾小管性低钾血症。患者均有共同的临床表现，但不典型的实验室检查结果难以区分。基因分析结果如下：患者 1 和患者 2 均为 KCNJ1 基因 c.C625T 杂合突变，导致 Bartter 综合征；患者 3 为 ATP6V1B1 基因 c.G298A 杂合突变，导致肾小管性酸中毒；患者 4 为 BSND 基因 c.G893A 的复合杂合突变，导致 Bartter 综合征，以及 ATP6V0A4 基因 c.1029+5G>A 的复合杂合突变，导致远端肾小管性酸中毒；患者 5 患有 Gitelman 综合征，携带 SLC12A3 基因的 c.C1963T 和 c.G2029A 复合杂合突变。所有上述突变均为已知的杂合突变。
在 5 例肾脏低钾血症患者中发现了不常见的杂合突变。肾小管性低钾血症的分子诊断有助于准确诊断和治疗。
