Familial juvenile hyperuricaemic nephropathy is not such a rare genetic metabolic purine disease in Britain

Nucleosides, Nucleotides and Nucleic Acids

Volumn 25, Issue 9-11, 2006, Pages 1071-1075

  Simmonds, H Anne ^a   Cameron, J S ^a   Goldsmith, D J ^a   Fairbanks, L D ^a   Raman, G Venkat ^b  

^a GUY S HOSPITAL   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

Author keywords

Adolescent gout; Familial renal disease

Indexed keywords

ALLOPURINOL; ORAL CONTRACEPTIVE AGENT;

ARTICLE; BLOOD PRESSURE REGULATION; CHROMOSOME 16; CONTROLLED STUDY; DIALYSIS; DIET; DISEASE COURSE; FAMILIAL DISEASE; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC DISORDER; GLOMERULUS FILTRATION RATE; GOUT; HUMAN; HYPERTENSION; KIDNEY DISEASE; KIDNEY TRANSPLANTATION; MAJOR CLINICAL STUDY; MALE; PATIENT COMPLIANCE; PREGNANCY; PURINE METABOLISM; RARE DISEASE; UNITED KINGDOM; URIC ACID NEPHROPATHY;

ADOLESCENT; ADULT; ALLOPURINOL; CHILD; DISEASE PROGRESSION; FAMILY HEALTH; FEMALE; GLOMERULAR FILTRATION RATE; GREAT BRITAIN; HUMANS; KIDNEY DISEASES; MALE; NEPHRITIS, HEREDITARY; PEDIGREE; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; TIME FACTORS;

EID: 33750468714     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770600891028     Document Type: Article

References (4)

1. Cameron, J.S.; Simmonds, H.A. Hereditary hyperuricemia and renal disease. Semin. Nephrol. 2005, 25, 9-18.
2. Kudo, E.; Kamatani, N.; Tezuka, O.; Taniguchi, A.; Yamanaka, H.; Yabe, S.; Osabe, D.; Shinohara, S.; Nomura, K.; Segawa, M.; Miyamoto, T.; Moritani, M.; Kunika, K.; Itakura, M. Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. Kidney Int. 2004, 65, 1589-97.
3. Lens, X.M.; Banet, J.F.; Outeda, P.; Barrio-Lucia, V. A novel pattern of mutation in uromodulin disorders: autosomal dominantmedullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. Am. J. Kidney. Dis. 2005, 46, 52-57.
4. Hodanova, K.; Majewski, J.; Kublova, M.; Vyletal, M.; Kalbacova, M.; Stiburkova, B.; Hulkova, H.; Chagnon, Y.C.; Lanouette, C.M.; Marinaki, A.; Fryns, J.P.; Venkat-Raman, G.; Kmoch, S. Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. Kidney Int. 2005, 68, 1472-1482.