Disappearance of tophi in familial juvenile hyperuricemic nephropathy after kidney transplantation

American Journal of Transplantation

Volumn 7, Issue 11, 2007, Pages 2634-2636

  Merieau, E ^a   Al Najjar, A ^a   Halimi, J M ^a   Sacquepee M ^a   Nivet, H ^a   Lebranchu, Y ^a   Buchler M ^a  

^a UNIVERSITÉ DE TOURS   (France)

Author keywords

Congenital; Hyperuricemia; Kidney transplantation

Indexed keywords

CYCLOSPORIN; LYMPHOCYTE ANTIBODY; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; STEROID; TAMM HORSFALL GLYCOPROTEIN; URIC ACID;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CREATININE BLOOD LEVEL; EXON; FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY; GENE MUTATION; GENETIC ANALYSIS; HEMODIALYSIS; HUMAN; IMMUNOSUPPRESSIVE TREATMENT; INTERSTITIAL NEPHRITIS; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY FUNCTION; KIDNEY GRAFT REJECTION; KIDNEY TRANSPLANTATION; LESCH NYHAN SYNDROME; MALE; POSTOPERATIVE PERIOD; PRIORITY JOURNAL; PROTEIN EXPRESSION; URIC ACID URINE LEVEL;

ADULT; EXONS; FEMALE; GENE EXPRESSION; HUMANS; HYPERURICEMIA; KIDNEY FAILURE, CHRONIC; KIDNEY TRANSPLANTATION; MALE; MUCOPROTEINS; MUTATION; RENAL DIALYSIS;

EID: 35248873809     PISSN: 16006135     EISSN: 16006143     Source Type: Journal    
DOI: 10.1111/j.1600-6143.2007.01977.x     Document Type: Article

References (13)

1. McBride MB, Ridgen S, Haycock GB et al. Presymptomatic detection of familial juvenile hyperuricemic nephropathy in children. Pediatr Nephrol 1998 12 : 357 364.
2. Dahan K, Devuyst O, Smaers M et al. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol 2003 14 : 2883 2893.
3. Pennica D, Kohr WJ, Kuang WJ et al. Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein. Science 1987 236 : 83 88.
4. Ronco P, Brunisholz M, Geniteau-Legendre M, Chatelet F, Verroust P. Physiopathologic aspects of Tamm-Horsfall protein: A phylogenetically conserved marker ot the thick ascending limb Henle's loop. Adv Nephrol Necker Hospital 1987 16 : 231 249.
5. Lens XM, Banet JF, Outeda P, Barrio-Lucia V. A novel pattern of mutation in uromodulin disorders: Autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. Am J Kidney Dis 2005 46 : 52 57.
6. Dahan K, Fuchshuber A, Adamis S et al. Familial juvenile hyperuricemic nephropathy and medullary cystic kidney disease type 2: Two facets of the same disease? J Am Soc Nephrol 2001 12 : 2348 2357.
7. Scolari F, Caridi G, Rampoldi L et al. Uromodulin storage diseases: Clinical aspects and mechanisms. Am J Kidney Dis 2004 44 : 987 999.
8. Serafini-Cessi F, Malagolini N, Cavallone D. Tamm-Horsfall glycoprotein: Biology and clinical relevance. Am J Kidney Dis 2003 42 : 658 676.
9. Bingham C, Ellard S, Van't Hoff WG et al. Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int 2003 63 : 1645 1651.
10. Jennings P, Aydin S, Kotanko P et al. Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy. J Am Soc Nephrol 2007 18 : 264 273.
11. Bleyer A, Hart T, Shihabi Z, Robins V, Hoyer J. Mutations in the uromodulin gene decrease urinary excretion of Tamm Horsfall protein. Kidney Int 2004 66 : 974 977.
12. Sica D, Schoolwerth A. Renal handling of organic anions and cations and renal excretion of uric acid. In : Brenner BM (ed). The Kidney, 5th edition. Philadelphia, WA Saunders, 1996 : 607 610.
13. Fairbanks LD, Cameron JS, Venkat-Raman G et al. Early treatment with allopurinol in familial juvenile hyperuricemic nephropathy (FJHN) ameliorates the long-term progression of renal disease. QJM 2002 95 : 597 607.