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Bartter disease type 4A - Clinical Profile, Genes & Research | Kisho | Kisho
Rare Disease
Bartter disease type 4A
MONDO:0011242
Also known as:BARTS4ABSNDBSND Bartter syndrome
Overview
Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene.
GeneticsAutosomal recessive · BSND (chr 1)
OnsetCONGENITAL
ResearchLimited published research (9 articles)
Clinical Presentation
Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 8:51 AM UTC
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.
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FAQ
Frequently Asked Questions
Common questions about Bartter disease type 4A
Bartter disease type 4A is a rare form of Bartter syndrome that is caused by a mutation in the BSND gene. This condition is one of several types of Bartter syndromes, which affect the kidneys and can lead to challenges with salt and water balance in the body.
People with this condition have a genetic change in the BSND gene. This change can influence how the kidneys work, and it is important to understand that the condition is part of a group of disorders with similar features. Information about the full range of effects and presentations of this condition is still being understood by the medical community.
Information about symptoms is currently limited for this condition.
Bartter disease type 4A is caused by a mutation in the BSND gene. This genetic change disrupts the normal function of the BSND protein, which plays a key role in kidney function. The altered protein can lead to disturbances in the body's handling of salts and fluids. Associated genes include BSND.
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 always present findings: Polydipsia, Inner ear hearing loss (sensorineural hearing impairment), Hypokalemia, and Impaired renal concentrating ability and others. 29 total HPO annotations.
Organ System
Phenotype Count
Example Features
Kidneys and urinary system
8
Tubulointerstitial fibrosis, Reduced kidney function (renal insufficiency), Global glomerulosclerosis
Muscles
3
Low muscle tone (hypotonia), Generalized hypotonia, Renal salt wasting
Pregnancy and birth
2
Hydrops fetalis, Fetal polyuria
Brain and nerves
2
Intellectual disability, Hyporeflexia
Growth and development
1
Failure to thrive
Lab test results
1
Increased circulating aldosterone concentration
Metabolism
1
Hypokalemic hypochloremic metabolic alkalosis
Ears
1
Inner ear hearing loss (sensorineural hearing impairment)
Age of onset: at birth.
Explore clinical features
Genetic Landscape
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.
BSND encodes barttin CLCNK type accessory subunit beta (320 aa). Regulatory subunit of anion-selective CLCNKA:BSND and CLCNKB:BSND heteromeric channels involved in basolateral chloride conductance along the nephron to achieve urine concentration and maintain systemic acid-base homeostasis, and in the stria vascularis of the inner ear to establish the endocochlear potential necessary for normal hearing. Highest expression in Kidney Medulla (12.5 TPM) and Kidney Cortex (8.5 TPM).
Bartter disease type 4A is caused by mutations in the BSND gene on chromosome 1.
The BSND protein participates in CLCN1/2/KA/KB transport cytosolic Cl- to extracellular region pathway.
BSND is classified as a druggable target (Transporter category) with score 0.0.
Diagnosis
Genetic testing for BSND is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Bartter disease type 4A has been reported in the published literature.
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 4A.
10 publications have been identified in PubMed for Bartter disease type 4A. Research spans Case Report / Case Series (56%), Basic Science / Preclinical (22%), and Diagnostic / Biomarker (11%).
Recent Publications
Takeda S (2026). [PMID: 41988811](https://pubmed.ncbi.nlm.nih.gov/41988811/). *Pediatr Int*. [Case Report / Case Series]
FDA approved Casgevy CRISPR gene therapy for children as young as 2 with sickle cell disease on July 1, 2026. Here's what families need to know about this milestone. Approximately 5,500 additional American children are now eligible for this established one-time therapy, according to Vertex Pharmaceuticals, Casgevy's developer. Casgevy also covers transfusion-dependent beta-thalassemia in this new age indication. Sickle cell disease is a lifelong inherited blood disorder that warps red blood cells into stiff, crescent shapes that can block blood flow, starving organs and tissues of oxygen. The world's first CRISPR-based gene therapy has been approved for children as young as two years old, opening the possibility of a single, potentially curative treatment to thousands of American children with sickle cell disease before years of organ damage can narrow what medicine can do for them. Families with children aged 2 and older who have sickle cell disease should speak with their pediatric hematologist about whether Casgevy is appropriate to consider at this stage of their child's disease. Ask specifically which authorized treatment centers perform Casgevy in your region. Treatment is available only at specialized sites, and geographic access remains limited. Contact your child's insurance plan or Medicaid office to ask about coverage. Medicaid coverage for gene therapies varies by state, and some states have developed outcomes-based payment models for high-cost therapies. "With today's decision, pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases," said Karim Mikhail, acting director of the Office of Therapeutic Products at the FDA's Center for Biologics Evaluation and Research, according to the FDA press announcement. Casgevy is a non-viral, ex vivo CRISPR/Cas9 gene-edited cell therapy.
