caa a22 4500 445883227 CHVBK 20180317145551.0 cr unu---uuuuu 170323e20110801xx s 000 0 eng 10.1007/s10157-011-0431-3 doi (NATIONALLICENCE)springer-10.1007/s10157-011-0431-3 A novel compound heterozygous ROMK mutation presenting as late onset Bartter syndrome associated with nephrocalcinosis and elevated 1,25(OH)2 vitamin D levels [Elektronische Daten] [Amita Sharma, Micheal Linshaw] 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. Japanese Society of Nephrology, 2011 Bartter syndrome nationallicence Late presentation nationallicence 1,25(OH)2 vitamin D nationallicence ROMK nationallicence KCNJ1 nationallicence Sharma Amita Pediatric Nephrology Unit, Massachusetts General Hospital for Children and Harvard Medical School, 02114, Boston, MA, USA aut Linshaw Micheal Pediatric Nephrology Unit, Massachusetts General Hospital for Children and Harvard Medical School, 02114, Boston, MA, USA aut Clinical and Experimental Nephrology Springer Japan 15/4(2011-08-01), 572-576 1342-1751 15:4<572 2011 15 10157 https://doi.org/10.1007/s10157-011-0431-3 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10157-011-0431-3 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sharma Amita Pediatric Nephrology Unit, Massachusetts General Hospital for Children and Harvard Medical School, 02114, Boston, MA, USA aut NATIONALLICENCE 700 1- Linshaw Micheal Pediatric Nephrology Unit, Massachusetts General Hospital for Children and Harvard Medical School, 02114, Boston, MA, USA aut NATIONALLICENCE 773 0- Clinical and Experimental Nephrology Springer Japan 15/4(2011-08-01), 572-576 1342-1751 15:4<572 2011 15 10157 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer