A novel compound heterozygous ROMK mutation presenting as late onset Bartter syndrome associated with nephrocalcinosis and elevated 1,25(OH)2 vitamin D levels
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Amita Sharma Micheal A. Linshaw
- چاپ و سال / کشور: 2011
Description
Bartter syndrome (BS) is a rare renal tubular disorder presenting with hypokalemic metabolic alkalosis, which is classified into five types. KCNJ1 mutations usually cause the neonatal form of BS, type II BS (OMIM 241200). However, this report concerns a female patient with a novel, compound heterozygous KCNJ1 mutation that causes late-onset BS. The unique clinical findings of this case include persistently elevated 1,25(OH)2 vitamin D levels, possibly due to increase prostaglandin E2 levels, and medullary nephrocalcinosis. Treatment with COX-2 inhibitors resolved her hypercalciuria and improved her height and weight; renal function remains stable and there is no progression of nephrocalcinosis.
Clin Exp Nephrol Received: 30 June 2010 / Accepted: 24 February 2011
