Birt-Hogg-Dubé Syndrome in Liver Donor

What is it about?

This case report discusses the incidental findings in a potential liver donor during a CT scan, which revealed lung cysts and a solid renal mass. The patient was diagnosed with Birt-Hogg-Dubé syndrome (BHDS), a rare genetic disorder characterized by lung cysts, skin lesions, and renal tumors. The report emphasizes the importance of thorough radiological evaluation in potential donors and highlights the need to consider familial and syndromic conditions when solid renal masses are detected at a young age. Prompt diagnosis and appropriate management are crucial for patient care and genetic counseling.

Featured Image

Photo by Robina Weermeijer on Unsplash

Photo by Robina Weermeijer on Unsplash

Why is it important?

This case report is important because it highlights the significance of thorough radiological evaluation in potential organ donors. Incidental findings, such as lung cysts and solid renal masses, can occasionally indicate underlying genetic syndromes, like Birt-Hogg-Dubé syndrome (BHDS). Identifying these conditions is crucial for proper management, including timely treatment and genetic counseling. Additionally, it emphasizes the need for comprehensive screening to ensure the well-being of both the donor and the recipient in organ transplantation procedures.