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Early onset of renal cancer in a family with Birt–Hogg–Dubé syndrome

2009; Wiley; Volume: 75; Issue: 6 Linguagem: Inglês

10.1111/j.1399-0004.2009.01159.x

1399-0004

Irma Kluijt, Daphne de Jong, HJ Teertstra, PH Axwijk, Gilles Thomas, Katy Bell, Anja van Rens, AWG Van Der Velden, Lindsay Middelton, Simon Horenblas,

Pediatric Urology and Nephrology Studies

Birt-Hogg-Dubé syndrome is a hereditary syndrome characterized by benign disease of skin and lungs and a risk of malignant renal tumors. We describe a clinical and genetic study of a large Dutch family with a novel mutation in the FLCN gene. Renal cancer at very young age occurred in one branch of this family, while in other branches, cutaneous and pulmonary symptoms predominated. A variety of congenital anomalies and connective tissue abnormalities were observed, possibly associated with the gene mutation.