Von Hippel-Lindau disease: An important differential diagnosis of polycystic kidney disease

Nephrology Dialysis Transplantation

Volumn 12, Issue 6, 1997, Pages 1132-1136

  Browne, G ^a   Jefferson, J A ^b   Wright, G D ^b   Hughes, A E ^c   Doherty, C C ^b   Nevin, N C ^c   Keogh, J A B ^a  

^a ADELAIDE AND MEATH HOSPITAL   (Ireland)

^b BELFAST CITY HOSPITAL   (United Kingdom)

^c QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

Author keywords

Autosomal dominant polycystic kidney disease; Genetic characteristics; Genetic linkage analysis; Visceral complications; Von Hippel Lindau disease

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; FAMILIAL CANCER; FEMALE; GENE MUTATION; GENETIC LINKAGE; HEMANGIOBLASTOMA; HUMAN; HUMAN CELL; KIDNEY CARCINOMA; KIDNEY CYST; KIDNEY POLYCYSTIC DISEASE; MALE; PANCREAS CYST; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; VON HIPPEL LINDAU DISEASE;

EID: 0030919374     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/12.6.1132     Document Type: Article

References (19)

1. Maher ER, Iselius L, Yates JRW et al. Von Hippel-Lindau Disease : a genetic study. J Med Genet 1991; 28: 443-447
2. Maher ER, Yates JRW, Harries R et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med 1990; 77: 1151-1163
3. Latif F, Tory K Gnarra J et al. Identification of the von Hippel-Lindau disease tumour suppressor gene. Science 1993; 260: 1317-1320
4. Linehan WM et al. Identification of the von Hippel-Lindau (VHL) gene. Its role in renal cancer. J Am Med Assoc 1995; 273: 564-570
5. Knudson AG Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971; 68: 820-823
6. Crossey PA, Foster K, Richards FM et al. Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours. Hum Genet 1994; 93: 53-58
7. Chen F, Kishida T, Yao M et al. Germline mutations in the von Hippel-Lindau tumour suppressor gene and correlation with phenotype. Nature Med 1995; 1:822-826
8. Crossey PA, Richards FM, Foster K et al. Identification of intragenic mutations in the von Hippel-Lindau tumour suppressor gene and correlation with disease phenotype. Hum Mol Genet 1994; 3: 1303-1308
9. Glavac D, Neumann HPH, Wittke C et al. Mutations in the VHL tumor supressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe. Hum Genet 1996; 98: 271-280
10. Iliopoulos O, Kibel A, Gray S et al. Tumour suppression by the human von Hippel-Lindau gene product. Nature Med 1995; 1(8): 822-826
11. Keith DS, Torres V, King BF, Zincki, Farrow GM. Renal cell carcinoma in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 1994; 4: 661-669
12. Nelson JB, Oyasu R, Dalton DP. The clinical and pathological manifestations of renal tumors in von Hippel-Lindau disease. J Urol 1994; 152: 224-226
13. Choyke PL, Glenn GM, Walther McCM. The natural history of renal lesions in von Hippel-Lindau disease. A serial CT study in 28 patients. Am J Roentgenol 1992; 59: 1229-1234
14. Steinbech F, Novick AC. Treatment of renal cell carcinoma in von Hippel-Lindau disease. A multicenter study. J Urol 1995; 153: 1812-1816
15. Steinbach F, Novick AC, Shoskes D. Renal Transplantation in patients with renal cell carcinoma and von Hippel-Lindau disease. Urology 1994; 44: 760-763
16. Lamell JM, Fernando GS et al. Von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine 1989; 68: 1-21
17. Horton WA,Wong V, Elridge R. Von Hippel-Lindau's disease. Clinical and pathological manifestations in nine families with 50 affected members. Arch Intern Med 1976; 136: 769-777
18. Chauveau D, Duvic C, Chretien Y, Paraf F. Renal involvement in Von Hippel-Lindau disease. Kidney Int 1996; 50: 944-951.
19. Hauschild SA, Fedderson A, Frahm C et al. The von Hippel-Lindau syndrome. Its differential diagnosis from cystic kidneys in adulthood. Dtsch Med Wochenschr 1995; 120: 790-794