title: Disappearance of tophi in familial juvenile hyperuricemic nephropathy after kidney transplantation.
abstract: A 40-year-old man who had been on hemodialysis for 25 months due to familial juvenile hyperuricemic nephropathy (FJHN) received a kidney transplant. Biopsy of his native kidney had shown tubulo-interstitial nephropathy. Genetic analysis confirmed abnormal uromodulin expression due to a mutation in the exon 4 of the UMOD gene. He had multiple tophi on the day of transplantation, including some on his fingers. He received immunosuppressive treatment including polyclonal antilymphocyte antibodies, mycophenolate mofetil, steroids and cyclosporine and achieved excellent renal function, with serum creatinine at 13 mg/L on day 10 posttransplantation and 9.4 mg/L at 6 months. His uric acid excretion rate increased from 4.4% at day 2 posttransplantation to 7.7% 6 months after transplantation. The number and sizes of the tophi were reduced 3 months posttransplantation, and nearly disappeared at month 6. Serum uric acid level decreased slowly from 650 mumol/L before transplantation to 300 mumol/L. Reduction of tophi was probably due to the absence of the mutated UMOD gene in the transplanted kidney.
authors.affiliation: Department of Nephrology and Clinical Immunology, Bretonneau Hospital, Francois Rabelais University, CHU Tours, Cedex, France.
authors.forename: E
authors.initials: E
authors.lastname: Merieau
authors.forename: A
authors.initials: A
authors.lastname: Al Najjar
authors.forename: J-M
authors.initials: JM
authors.lastname: Halimi
authors.forename: M
authors.initials: M
authors.lastname: Sacquépée
authors.forename: H
authors.initials: H
authors.lastname: Nivet
authors.forename: Y
authors.initials: Y
authors.lastname: Lebranchu
authors.forename: M
authors.initials: M
authors.lastname: Büchler
mesh_terms: D000328:Adult; D005091:Exons / Q000235:genetics; D005260:Female; D015870:Gene Expression; D006801:Humans; D033461:Hyperuricemia / Q000473:pathology* / Q000601:surgery*; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000235:genetics; D016030:Kidney Transplantation; D008297:Male; D009088:Mucoproteins / Q000235:genetics; D009154:Mutation; D006435:Renal Dialysis; D058949:Uromodulin
chemical_list: D009088:Mucoproteins; C548612:UMOD protein, human; D058949:Uromodulin