1997
DOI: 10.1093/ndt/12.6.1132
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Von Hippel-Lindau disease: an important differential diagnosis of polycystic kidney disease

Abstract: Von Hippel Lindau disease is a dominantly inherited familial cancer syndrome, characterized by retinal, spinal, and cerebellar haemangioblastomas, renal cell carcinomas, and phaeochromocytomas. Cysts of the kidney and pancreas may also occur. We describe a large three-generation Irish family with VHL disease who initially presented with features typical of autosomal dominant polycystic kidney disease. Eight clinically affected individuals were found. Visceral complications were particularly prominent within th… Show more

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Cited by 12 publications
(4 citation statements)
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“…This syndrome is linked to mutations in the VHL tumor suppressor gene found on human chromosome 3 (204). As in ADPKD where secondary somatic mutations produce a loss of heterozygousity and subsequent cellular proliferation, somatic mutations of the normal VHL allele induce a growth advantage, but, unlike ADPKD, patients present with tumors (203,205,206). Central nervous system (cerebellar, brainstem, and spinal cord) hemangioblastomas are the classic findings of von Hippel-Lindau, but also observed are retinal angiomatosis, renal carcinomas (clear cell type), pheochromocytomas, pancreatic islet cell tumors, epididymal cystadenomas, renal cysts, pancreatic cysts and rarely hepatic cysts (203,207).…”
Section: Adpkd Associated With Von Hippel-lindaumentioning
confidence: 99%
See 1 more Smart Citation
“…This syndrome is linked to mutations in the VHL tumor suppressor gene found on human chromosome 3 (204). As in ADPKD where secondary somatic mutations produce a loss of heterozygousity and subsequent cellular proliferation, somatic mutations of the normal VHL allele induce a growth advantage, but, unlike ADPKD, patients present with tumors (203,205,206). Central nervous system (cerebellar, brainstem, and spinal cord) hemangioblastomas are the classic findings of von Hippel-Lindau, but also observed are retinal angiomatosis, renal carcinomas (clear cell type), pheochromocytomas, pancreatic islet cell tumors, epididymal cystadenomas, renal cysts, pancreatic cysts and rarely hepatic cysts (203,207).…”
Section: Adpkd Associated With Von Hippel-lindaumentioning
confidence: 99%
“…Generally, the cysts do not distort the normal architecture of the kidney and do not induce renal failure. However, cases have been reported where patients present with renal cystic disease, indistinguishable from ADPKD; but, upon further examination of the first degree relatives and/or radiologic exam of the proband, central nervous system hemagiomas were found which led to the diagnosis of von Hippel-Lindau (203,206). It is rare that cystic kidney disease associated with von Hippel-Lindau results in chronic renal failure, but renal insufficiency caused by nephrectomy for treatment of renal carcinoma is common (205).…”
Section: Adpkd Associated With Von Hippel-lindaumentioning
confidence: 99%
“…pVHL is located in the primary cilium of both human and mouse kidney cells (Schraml et al, 2009). Defects in primary cilia have been linked to development of polycystic disease in the kidney, which also occurs in some VHL patients (Browne et al, 1997). In humans, epithelial cells of the nephron have cilia that uniformly extend into the tubule lumen (Schraml et al, 2009).…”
Section: Discussionmentioning
confidence: 99%
“…Polycystic kidney disease in particular has a large differential diagnosis including VHL, and although polycystic kidney disease usually is not a premalignant condition, VHL certainly is [23]. Autosomal dominant polycystic kidney disease (ADPKD) is the most common renal cystic disease with a prevalence of about 1/900 [24]. Atypical features in suspected cases of ADPKD include intracystic calcification, the development of RCC and the presence of pancreatic cysts.…”
Section: Discussionmentioning
confidence: 99%