Ask about this productRelated genes to: CLCNKB antibody
- Gene:
- CLCNKB NIH gene
- Name:
- chloride voltage-gated channel Kb
- Previous symbol:
- -
- Synonyms:
- hClC-Kb
- Chromosome:
- 1p36.13
- Locus Type:
- gene with protein product
- Date approved:
- 1995-12-11
- Date modifiied:
- 2016-02-04
Related products to: CLCNKB antibody
Related articles to: CLCNKB antibody
- Bartter syndrome (BS) type 3 typically presents in childhood and is caused by defects in NaCl transporters of the thick ascending limb of the loop of Henle. We report a 66-year-old woman with asymptomatic but severe hypokalemia (2.0 mmol/L), metabolic alkalosis, and hyperreninemic hyperaldosteronism. Initial clinic blood pressure was 157/88 mmHg, but repeated office and home measurements were ~120/70 mmHg, consistent with white-coat hypertension. Imaging excluded renovascular disease. Sequential diuretic testing supported BS physiology: a thiazide loading test increased fractional excretion of chloride (FECl) from 0.46% to 3.88% (ΔFECl 3.4%), exceeding the 2.3% cutoff that argues against Gitelman syndrome; a furosemide test showed chloride reabsorption of 10.1%, indicating a profound loop-segment defect, even lower than values commonly reported in BS3. Targeted next-generation sequencing identified a homozygous CLCNKB stop-gain variant (c.1830G >A; p.Trp610Ter), confirming BS type 3. High-dose potassium chloride (9.9 g/day) failed to correct hypokalemia, whereas low-dose enalapril plus spironolactone normalized serum potassium (4.0 mmol/L) without persistent hypotension. The urine calcium/creatinine ratio was borderline-normal (0.65 mmol/mmol), rather than hypocalciuric. This case suggests that BS3 should remain in the differential diagnosis of refractory hypokalemia in older adults and highlights the diagnostic value of physiology-guided diuretic testing combined with genetic analysis, as well as the potential efficacy of low-dose ACE inhibitor plus mineralocorticoid receptor antagonist therapy when potassium supplementation alone is insufficient. - Source: PubMed
Publication date: 2026/06/09
Okura TsuyoshiFukaya KenjiOkazaki TetsuyaAdachi KaoriKinugasa YoshiharuKato Masaru - Congenital abnormalities of the kidney and urinary tract (CAKUT) are the leading cause of pediatric end-stage renal disease, affecting 3-6 per 1,000 live births. Genetic mutations underlie approximately 30% of cases, necessitating next-generation sequencing for precise diagnosis. - Source: PubMed
Publication date: 2026/05/14
Ammar Tamer H AAhmed Heba MostafaMohammed Eman E AEl-Hariri Hazem MohamedAbdelaleem AliceThomas Manal M - Parkinson's disease (PD) is the second most common neurodegenerative disease, characterised by progressive loss of dopaminergic neurons in the . Although previous studies have suggested a correlation between calcium signal disruption and the development of PD, the role of genes associated with store-operated calcium entry (SOCE) in PD remains unclear. - Source: PubMed
Publication date: 2026/05/13
Lou WangzhouyangWu Juqin - Bartter syndrome (BS) represents a group of rare, autosomal recessive renal tubular disorders characterized by hypokalemic hypochloremic metabolic alkalosis, secondary hyperaldosteronism, and normal to low blood pressure. The underlying pathophysiology is primarily driven by defects in critical ion transport proteins or channels localized within the thick ascending limb of the loop of Henle, leading to impaired salt reabsorption. Recent advances in molecular genetics have refined the classification of Bartter syndrome. Current evidence supports SLC12A1, KCNJ1, CLCNKB, BSND, and MAGED2 as the core disease genes within the contemporary BS spectrum, with MAGED2 causing a distinct X-linked transient antenatal form. In contrast, gain-of-function CASR variants, historically labeled "type V Bartter syndrome", are now more appropriately described as CaSR-associated Bartter-like phenotypes within the broader spectrum of disorders of calcium homeostasis. Despite significant progress, two primary research limitations remain. First, fully elucidating genotype-phenotype correlations and overcoming diagnostic complexities continues to be highly challenging due to substantial phenotypic overlap and genetic heterogeneity. Compounding these diagnostic hurdles is the equally critical challenge of understanding mutation-driven pathogenic mechanisms to develop viable clinical interventions. This review systematically summarizes the current molecular genetic landscape of BS to address these gaps. We highlight the relationships between specific genetic variants and clinical manifestations, delve into molecular pathophysiology including protein misfolding and trafficking defects, and explore emerging therapeutic approaches such as molecular chaperones. By integrating genetic and clinical data, this work aims to provide a comprehensive framework to facilitate precise diagnosis and individualized treatment strategies, ultimately advancing precision medicine in the management of Bartter syndrome. - Source: PubMed
Publication date: 2026/04/19
Zhu LinaLi YangBao Yiyao - Drug-induced hypokalemia is a common yet clinically insidious electrolyte disorder, but systematic evaluations of the risk profile of associated medications remain limited. This study was aimed at identifying high-risk drugs for hypokalemia via signal mining of the FAERS database, combined with bioinformatics analysis, clinical validation, and in vitro experiments, thereby elucidating the molecular basis of this condition and providing evidence for clinical risk management. Adverse event reports from 2004 Q1 to 2024 Q4 were analyzed using four disproportionality methods (ROR, PRR, BCPNN, and MGPS), integrated with multivariate logistic regression to assess drug-hypokalemia associations and risk factors. For cisplatin, the core high-risk drug identified, potassium metabolism-related differentially expressed genes were screened from the GEO dataset GSE145085. Candidate gene mRNA expression was validated by qPCR in 293 T and HK-2 cells. STRING protein-protein interaction (PPI) network analysis was performed to explore the link between candidate genes and potassium homeostasis. Additionally, ClinicalTrials.gov data were retrieved to confirm the clinical relevance of cisplatin-induced hypokalemia. FAERS analysis identified a total of 24,041 reports related to hypokalemia. The study identified 1199 suspected drugs, with 22 high-risk medications showing a significant association with hypokalemia, including cisplatin. In vitro experiments demonstrated that treatment with cisplatin for 24 h significantly altered the mRNA expression of GDF15, KCNQ1, and CLCNKB in 293 T and HK-2 cells, consistent with bioinformatics findings. STRING PPI analysis further revealed that GDF15 interacts with core components of the TGF-β/SMAD signaling pathway, while KCNQ1 and CLCNKB interact with critical regulators of renal potassium and chloride transport, collectively establishing a plausible molecular framework linking these genes to cisplatin-induced potassium homeostasis dysfunction. This study systematically identified 22 high-risk drugs associated with hypokalemia, including cisplatin. Bioinformatics analysis and in vitro experiments were further conducted to investigate the potential mechanisms underlying cisplatin-induced hypokalemia. The findings provide novel insights into the molecular basis of drug-induced hypokalemia and offer scientific support for promoting individualized rational medication and clinical management in affected patients. - Source: PubMed
Publication date: 2026/03/12
Zhang PinjieSong ZhuHe HongxiangJiang JunfengZhang Li