Bartter syndrome type 1 (SLC12A1 linked)

Pathology

• impaired salt reabsorption in the thick ascending loop of Henle with:
  • pronounced salt wasting
  • hypokalemic metabolic alkalosis
  • varying degrees of hypercalciuria, leading to nephrocalcinosis & osteopenia

Genetics

• autosomal recessive
• associated with defects in SLC12A1 (Na+/K+/Cl- transporter 2)

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

More general terms

• Bartter syndrome

Database

• OMIM: https://mirror.omim.org/entry/241200
• OMIM: https://mirror.omim.org/entry/600839
• OMIM: https://mirror.omim.org/entry/601678