Article
Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.
Clinical journal of the American Society of Nephrology : CJASN - 1 Oct 2011
Bollée Guillaume, Dahan Karin, Flamant Martin, Morinière Vincent, Pawtowski Audrey, Heidet Laurence, Lacombe Didier, Devuyst Olivier, Pirson Yves, Antignac Corinne, Knebelmann Bertrand
Abstract excerpt
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...
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