Is salt-wasting the long awaited answer to the hyperuricaemia seen in uromodulin storage diseases? [7]

Nephrology Dialysis Transplantation

Volumn 21, Issue 7, 2006, Pages 2028-2029

  Gersch, Michael ^a   Mutig, Kerim ^b   Bachmann, Sebastian ^b   Kumar, Satish ^c   Ouyang, Xiaosen ^a   Johnson, Richard ^a  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c UNIVERSITY OF OKLAHOMA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; SODIUM; TAMM HORSFALL GLYCOPROTEIN; URIC ACID;

HYPERURICEMIA; KIDNEY DISTAL TUBULE; LETTER; MEDULLARY SPONGE KIDNEY; MUTATION; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SALT LOSING NEPHRITIS; STORAGE DISEASE; UPREGULATION; WESTERN BLOTTING;

ANIMALS; HUMANS; HYPERURICEMIA; HYPONATREMIA; KIDNEY; KIDNEY DISEASES; MICE; MICE, KNOCKOUT; MUCOPROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SALTS; SODIUM; URATE OXIDASE; URIC ACID; UROMODULIN;

EID: 33745622386     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfk081     Document Type: Letter

References (6)

1. Hart TC, Gorry MC, Hart PS et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricemic nephropathy. J Med Genet 2002; 12: 882-892
2. 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; 1: 52-57
3. Tinschert S, Ruf N, Bernascone I et al. Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricemic nephropathy. Nephrol Dial Transplant 2004; 12: 3150-3154
4. Scolari F, Caridi G, Rampoldi L et al. Uromodulin storage diseases: clinical aspects and mechanisms. Am J Kidney Dis 2004; 44: 987-999
5. Cameron JS, Simmonds HA. Hereditary hyperuricemia and renal disease. Semin Nephrol 2005; 1: 9-18
6. Bachmann S, Mutig K, Bates J et al. Renal effects of Tamm-Horsfall protein (uromodulin) deficiency in mice. Am J Physiol Renal Physiol 2005; 288: 559-567