Birt Hogg Dube syndrome: Rare family lung disease


Simsek S. M., SAVAŞ R., TEMİZ P., ÇELİK P.

TUBERKULOZ VE TORAKS-TUBERCULOSIS AND THORAX, cilt.69, sa.1, ss.102-106, 2021 (ESCI, Scopus, TRDizin) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 69 Sayı: 1
  • Basım Tarihi: 2021
  • Doi Numarası: 10.5578/tt.20219913
  • Dergi Adı: TUBERKULOZ VE TORAKS-TUBERCULOSIS AND THORAX
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, CAB Abstracts, EMBASE, MEDLINE, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.102-106
  • Manisa Celal Bayar Üniversitesi Adresli: Evet

Özet

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.