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
- The kidney thick ascending limb (TAL) plays a key role in the transport of sodium, chloride, potassium, calcium, and magnesium. Bartter syndrome is a hypokalemic, salt-losing tubulopathy caused by impaired TAL function. Pathogenic variants in SLC12A1 or KCNJ1 cause antenatal Bartter syndrome, and variants in CLCNKB result in classical Bartter syndrome. Although all variants impair TAL electrolyte transport, their effects on mineral handling differ. In contrast to antenatal forms, classical Bartter syndrome is frequently associated with hypomagnesemia, a feature also found in Gitelman syndrome resulting from pathogenic variants in SLC12A3, expressed in the distal convoluted tubule (DCT). The mechanisms underlying these distinct clinical phenotypes are not understood. - Source: PubMed
Kortenoeven Marleen L ABogdanovic MilosAppel IdaSkjødt KarstenFuchtbauer Ernst-MartinMadsen KirstenLund LarsChambrey RégineEladari DominiqueAlexander R ToddHübner Christian AHennings J ChristopherDimke Henrik - 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