Bartter syndrome type 3 (classic Bartter syndrome)

Pathology: - often severe intravascular volume depletion due to renal salt-wasting associated with low blood pressure, hypokalemic alkalosis, hypercalciuria, & normal serum Mg⁺² Genetics: - autosomal recessive - mutation in CLCNKB chloride channel Clinical manifestations: - hyovolemia - hypotension Laboratory: - serum bicarbonate: alkalosis - serum K⁺: hypokalemia - serum Mg⁺²: normal - urine calcium: hypercalciuria - arterial blood gas: metabolic alkalosis

Database Correlations

OMIM correlations MORBIDMAP 602023

References

- Simon DB et al Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nature Genetics 17:171-8, 1997 PMID: 9326936