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Bartter disease type 4B - Clinical Profile, Genes & Research | Kisho | Kisho
Rare Disease
Bartter disease type 4B
MONDO:0000909
Also known as:BARTS4BBartter syndrome, type 4BBartter syndrome, type 4b, digenic
Overview
A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes.
Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.
Features include: Hypochloremia, Reduced kidney function (renal insufficiency), Low muscle tone (hypotonia), and Generalized hypotonia and 19 more.
Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.
CLCNKA
CLCNKA encodes chloride voltage-gated channel Ka (687 aa). Anion-selective channel permeable to small monovalent anions with ion selectivity for chloride > bromide > nitrate > iodide. Highest expression in Kidney Medulla (293.0 TPM) and Thyroid (44.9 TPM).
Bartter disease type 4B is associated with mutations in the CLCNKA gene on chromosome 1.
The CLCNKA protein participates in CLCN1/2/KA/KB transport cytosolic Cl- to extracellular region pathway.
CLCNKA is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 4.0.
CLCNKB
CLCNKB encodes chloride voltage-gated channel Kb (687 aa). Anion-selective channel permeable to small monovalent anions with ion selectivity for chloride > bromide > nitrate > iodide. Highest expression in Kidney Medulla (165.4 TPM) and Kidney Cortex (137.3 TPM).
Bartter disease type 4B is associated with mutations in the CLCNKB gene on chromosome 1.
Diagnosis
Genetic testing for CLCNKA, CLCNKB is available. Testing is considered confirmatory for diagnosis.
Research Landscape
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
No clinical trials have been registered for Bartter disease type 4B.
4 publications have been identified in PubMed for Bartter disease type 4B. Research spans Case Report / Case Series (50%), Other (25%), and Review / Meta-Analysis (25%).
Recent Publications
Badr KM (2025). [PMID: 40589384](https://pubmed.ncbi.nlm.nih.gov/40589384/). *Sci Prog*. [Case Report / Case Series]
Mathew GG (2025). [PMID: 39992172](https://pubmed.ncbi.nlm.nih.gov/39992172/). *J Bras Nefrol*. [Other]
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
→Should I pursue genetic testing for the associated genes, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?
FAQ
Frequently Asked Questions
Common questions about Bartter disease type 4B
Bartter disease type 4B is a rare inherited disorder that arises from mutations in two specific genes: CLCNKA and CLCNKB. These genes play a key role in kidney function and the regulation of electrolytes. People with this condition belong to a group of diseases called Bartter syndromes, which can affect kidney function and overall fluid balance.
Information about symptoms is currently limited for this condition.
Bartter disease type 4B is caused by simultaneous mutations in both the CLCNKA and CLCNKB genes. Changes in these genes disrupt normal kidney function. This genetic basis is the primary cause of the condition. Associated genes include CLCNKA, CLCNKB.
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.
