European journal of clinical investigation · 2010
Hereditary causes of kidney tumours.
СтатьяОбзорНазвание и аннотация: Перевод в очереди
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Axwijk Priscilla Helene, Kluijt Irma, de Jong Daphne, Gille Hans, Teertstra Jelle, Horenblas Simon
Аннотация
BACKGROUND: In most cases of renal cell carcinoma there is no family history of renal cancer and no hereditary cause of the disease. Hereditary renal cancer accounts for about 2-4% of cases. Recognition of this subgroup by clinicians is important because of the possibility of severe medical consequences for patients and their relatives.
MATERIALS AND METHODS: We review the latest data about different genetic conditions characterized by an increased risk of developing renal cancer and we formulate tools to recognize high-risk families.
RESULTS: In general, a positive family history, young age at diagnosis of renal cancer, multiple and/or bilateral renal tumours and combined occurrence of different histological types of renal tumours should raise suspicion of a hereditary renal tumour syndrome. In addition, the presence of specific extrarenal symptoms in patients could assist in differentiating between tumour syndromes.
CONCLUSIONS: A detailed medical and family history, along with physical examination are key factors to diagnose hereditary renal cancer syndromes. When a genetic predisposition for renal cancer is suspected, referral to a Family Cancer Clinic is warranted to initiate genetic examination and counselling on preventive options.
MATERIALS AND METHODS: We review the latest data about different genetic conditions characterized by an increased risk of developing renal cancer and we formulate tools to recognize high-risk families.
RESULTS: In general, a positive family history, young age at diagnosis of renal cancer, multiple and/or bilateral renal tumours and combined occurrence of different histological types of renal tumours should raise suspicion of a hereditary renal tumour syndrome. In addition, the presence of specific extrarenal symptoms in patients could assist in differentiating between tumour syndromes.
CONCLUSIONS: A detailed medical and family history, along with physical examination are key factors to diagnose hereditary renal cancer syndromes. When a genetic predisposition for renal cancer is suspected, referral to a Family Cancer Clinic is warranted to initiate genetic examination and counselling on preventive options.