Bartter syndrome type 1 (SLC12A1 linked)

Genetics: - autosomal recessive - associated with defects in SLC12A1 (Na⁺/K⁺/Cl^- transporter 2) Pathology: - impaired salt reabsorption in the thick ascending loop of Henle with: a) pronounced salt wasting b) hypokalemic metabolic alkalosis c) varying degrees of hypercalciuria, leading to nephrocalcinosis & osteopenia Clinical manifestations: - life-threatening condition beginning in utero - marked fetal polyuria that leads to polyhydramnios & premature delivery Laboratory: - urine calcium: marked hypercalciuria - serum K⁺: hypokalemia - serum bicarbonate: consistent with metabolic acidosis - arterial blood gas: consistent with metabolic acidosis

References

OMIM 601678