Guillaume Bollée, Karin Dahan, Martin Flamant, Vincent Morinière, Audrey Pawtowski, Laurence Heidet, Didier Lacombe, Olivier Devuyst, Yves Pirson, Corinne Antignac, Bertrand Knebelmann
BACKGROUND: UMOD mutations cause familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD), although these phenotypes are nonspecific. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We reviewed cases of UMOD mutations diagnosed in the genetic laboratories of Necker Hospital (Paris, France) and of Université Catholique de Louvain (Brussels, Belgium). We also analyzed patients with MCKD/FJHN but no UMOD mutation. To determine thresholds for hyperuricemia and uric-acid excretion fraction (UAEF) according to GFR, these parameters were analyzed in 1097 patients with various renal diseases and renal function levels...
October 2011: Clinical Journal of the American Society of Nephrology: CJASN