Study of Birt-Hogg-Dube Syndrome to Understand Its Genetic Causes and Risk for Kidney Cancer and Skin and Lung Features

What this Trial Is About

Researchers are investigating Birt-Hogg-Dube BHD syndrome, a rare inherited condition that causes benign tumors on the skin and increases the risk of kidney cancer. The study aims to understand the genetic causes of BHD, the types and characteristics of kidney tumors linked with it, and whether more than one gene is involved. It also seeks to explore the risk factors for kidney cancer and other related conditions such as lung cysts and skin lesions in affected individuals. Participants include individuals with known or suspected BHD and their family members. They undergo various assessments including physical exams, review of medical and family history, imaging scans like CT, MRI, ultrasound, and X-rays, blood tests including genetic testing, skin biopsies, cheek swabs, lung function tests, and medical photography of skin lesions. These tests are performed on an outpatient basis, either in one day or over several days. Participants with kidney lesions may be asked to return for periodic follow-up visits every 3 to 36 months to monitor lesion progression. During the study, participants receive counseling about their test results and recommendations. Researchers will track the characteristics of renal tumors, their growth rates, and related genetic factors. The study also collects data on genotype-phenotype correlations and the natural history of BHD-related tumors. Participation involves initial screening and repeated monitoring for some, with the goal of better understanding BHD and its relationship to kidney cancer and other symptoms.

Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer