1. Birt Hogg Dube syndrome: Rare family lung disease
- Author
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Recep Savaş, Peyker Temiz, Saban Melih Simsek, and Pinar Celik
- Subjects
Adult ,Male ,Pulmonary and Respiratory Medicine ,medicine.medical_specialty ,renal tumors ,Disease ,Kidney ,Critical Care and Intensive Care Medicine ,Birt–Hogg–Dubé syndrome ,Birt-Hogg-Dube Syndrome ,Diagnosis, Differential ,Rare Diseases ,Spectrum ,medicine ,Humans ,Recurrent pneumothorax ,First-degree relatives ,Cysts ,business.industry ,Pneumothorax ,Birt Hogg Dube syndrome ,medicine.disease ,Dermatology ,Multiple cysts ,Lung disease ,cystic lung diseases ,Surgery ,Differential diagnosis ,business ,Mutations ,Rare disease - Abstract
Birt Hogg Dube syndrome is a rare disease characterized by autosomal dominant inherited multiple cysts in the lungs, renal tumors and skin fibrofolliculomas. It was first described in 1977 by Birt et al. In this case report, a patient who was diagnosed with symptoms and his first degree relative is presented. Diseases that should be considered in differential diagnosis are discussed. The diagnosis of this disease is usually made after recurrent pneumothorax. Since it is a genetic disease, the importance of follow-up and screening needs of patients and their relatives is emphasized.
- Published
- 2021
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