Search
Bartter syndrome type 2 (hyperprostanglandin E syndrome 2, KCNJ1 linked)
Genetics:
- autosomal recessive
- associatated with defects in KCNJ1 (inwardly-rectifying K+ channel J1)
Pathology:
- impaired salt reabsorption in the thick ascending loop of Henle
- pronounced salt wasting
- hypokalemic metabolic alkalosis
- varying degrees of hypercalciuria
- life- threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios & premature delivery
- marked hypercalciuria leading to nephrocalcinosis & osteopenia
Database Correlations
OMIM correlations
MORBIDMAP 600359
References
OMIM :accession 241200