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Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
Features include always present findings: Hypokalemia; and common findings: Hypocalciuria. 19 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 5 | Nephrocalcinosis, Impaired renal tubular reabsorption of chloride, Increased urinary potassium |
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 3 is associated with mutations in the CLCNKB gene on chromosome 1.
CLCNKB is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 0.0.
Genetic testing for CLCNKB is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Bartter disease type 3 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 1 common feature.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for Bartter disease type 3.
54 publications have been identified in PubMed for Bartter disease type 3. Research spans Case Report / Case Series (52%), Review / Meta-Analysis (19%), and Basic Science / Preclinical (13%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 28 | 52% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Bartter disease type 3
3 |
Generalized muscle weakness, Renal potassium wasting, Renal salt wasting |
Lab test results | 2 | Increased circulating renin concentration, Increased circulating aldosterone concentration |
Metabolism | 1 | Hypokalemic metabolic alkalosis |
Eyes | 1 | Abnormal retinal vascular morphology |
10 |
19% |
Laboratory research | 7 | 13% |
Testing and diagnosis research | 4 | 7% |
Clinical study results | 2 | 4% |
Disease patterns and progression | 2 | 4% |
Other research | 1 | 2% |
Chondrogianni ME (2026). [PMID: 40760326](https://pubmed.ncbi.nlm.nih.gov/40760326/). *Hormones (Athens, Greece)*. [Review / Meta-Analysis]
Engel O (2026). [PMID: 42079331](https://pubmed.ncbi.nlm.nih.gov/42079331/). *Clin Med Insights Pediatr*. [Case Report / Case Series]
Asif M (2026). [PMID: 41994147](https://pubmed.ncbi.nlm.nih.gov/41994147/). *Clin Case Rep*. [Case Report / Case Series]
Okura T (2026). [PMID: 42272570](https://pubmed.ncbi.nlm.nih.gov/42272570/). *Case Rep Endocrinol*. [Case Report / Case Series]
Rivetti G (2026). [PMID: 41517599](https://pubmed.ncbi.nlm.nih.gov/41517599/). *Journal of clinical medicine*. [Review / Meta-Analysis]
Ammar THA (2026). [PMID: 42132966](https://pubmed.ncbi.nlm.nih.gov/42132966/). *Mol Biol Rep*. [Basic Science / Preclinical]
Yang S (2026). [PMID: 42074542](https://pubmed.ncbi.nlm.nih.gov/42074542/). *Genes (Basel)*. [Case Report / Case Series]
Glassner VO (2026). [PMID: 41330877](https://pubmed.ncbi.nlm.nih.gov/41330877/). *Prenat Diagn*. [Diagnostic / Biomarker]
Butnariu LI (2026). [PMID: 41828581](https://pubmed.ncbi.nlm.nih.gov/41828581/). *International journal of molecular sciences*. [Diagnostic / Biomarker]
Czubilińska-Łada J (2026). [PMID: 41883686](https://pubmed.ncbi.nlm.nih.gov/41883686/). *Frontiers in pediatrics*. [Case Report / Case Series]
AI-curated news mentioning Bartter disease type 3
Updated Jun 9, 2026
A rare case study highlights the diagnosis of Bartter syndrome type 3 in an elderly patient, expanding the understanding of this condition beyond its typical presentation in childhood. This case may prompt further research into the age-related manifestations of rare diseases.