Seventh BHD international symposium: recent scientific and clinical advancement

Abstract

The 7th Birt-Hogg-Dubé (BHD) International Symposium convened virtually in October 2021. The meeting attracted more than 200 participants internationally and highlighted recent findings in a variety of areas, including genetic insight and molecular understanding of BHD syndrome, structure and function of the tumor suppressor Folliculin (FLCN), therapeutic and clinical advances as well as patients' experiences living with this malady.

Monogenic Kidney Diseases in Kidney Transplantation

“…This syndrome is caused by pathogenic variants in the FLCN gene encoding for the protein folliculin, a putative tumor suppressor gene. 76 Renal cancers occur in 12% to 34% of patients aged about 50 years, with variable histology (chromophobe and mixed chomophobe-oncocytic pattern mostly). Tumors <3 cm require active surveillance whereas larger tumors require nephron-sparing surgery.…”

Birt-Hogg-Dubé syndrome with c.1579_1580insA variant in a Chinese family: a case report

“…Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant genetic disease, which causes a clinical syndrome including benign skin tumors (fibrofolliculomas), renal tumors and pulmonary cysts/bulla via pathogenic variants at position 17p11.2 on chromosome, known as FLCN gene ( 1 , 2 ). FLCN gene contains 14 exons and encodes a follicular protein consisting of 579 amino acids, which is mostly interfered through occurring code shifting or nonsense variants in FLCN gene, especially in organs including skin, kidney and lung ( 3 , 4 ).…”