Ask about this productRelated genes to: CLCNKB Blocking Peptide
- 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 Blocking Peptide
Related articles to: CLCNKB Blocking Peptide
- 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 - This study aimed to elucidate IL-17 inhibitors' mechanisms in psoriasis, offering a theoretical basis for tackling clinical issues like treatment resistance and relapse. - Source: PubMed
Publication date: 2025/12/25
Wei YanLiu MengMou Kuan-HouWang Li-JuanZheng Yan - Bartter Syndrome (BS) is a genetic disorder affecting the renal tubules, leading to elevated levels of renin, angiotensin, and aldosterone, along with metabolic alkalosis, while maintaining normal blood pressure. It is also associated with laboratory abnormalities such as hypocalcemia, hypokalemia, hypomagnesemia, and hyponatremia, which may result in neurological complications including seizures and loss of consciousness. These findings necessitate consideration of important differential diagnoses such as Gitelman syndrome and cystic fibrosis, underscoring the importance of confirming the diagnosis of this serious condition, giving it appropriate attention, and initiating early treatment to prevent advanced complications. We report the case of a 36-year-old Jordanian male with a medical history of Bartter Syndrome and chronic kidney disease, who presented to the emergency department in a coma with generalized seizures due to severe electrolyte imbalances. His condition was further complicated by a genetic predisposition and a family history of Bartter Syndrome, with genetic testing confirming mutations in the CLCNKB gene. This rare case of Bartter Syndrome type III, in which the patient progressed to the stage of hemodialysis, illustrates the complexities of diagnosis and management, and emphasizes the importance of continuous care and regular follow-up. - Source: PubMed
Publication date: 2025/12/26
Hanifa HamdahAl-Badareen YumnaAl-Refaai Malak MbarakGanama Nafeaa MAlabrash Mohammad SameehAlsaleh Basil - Studies have demonstrated a significant connection between acute kidney injury (AKI) and chronic kidney disease (CKD). The purpose of this study was to identify biomarkers linked to the advancement of AKI and CKD, aiming to offer new targets and insights for treating and intervening in these conditions. - Source: PubMed
Publication date: 2025/09/30
Zeng FanhuaYang ZhenhuaWang Zufeng