Birt Hogg Dube syndrome: Rare family lung disease

被引：0

作者：

Simsek, Saban Melih ^{[1
]}

Savas, Recep ^{[3
]}

Temiz, Peyker ^{[2
]}

Celik, Pinar ^{[1
]}

机构：

[1] Celal Bayar Univ, Dept Chest Dis, Fac Med, Manisa, Turkey

[2] Celal Bayar Univ, Dept Pathol, Fac Med, Manisa, Turkey

[3] Ege Univ, Dept Radiol, Fac Med, Izmir, Turkey

来源：

TUBERKULOZ VE TORAKS-TUBERCULOSIS AND THORAX | 2021年 / 69卷 / 01期

关键词：

Birt Hogg Dube syndrome; cystic lung diseases; renal tumors; KIDNEY; CYSTS; PNEUMOTHORAX; MUTATIONS; SPECTRUM;

D O I：

10.5578/tt.20219913

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

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.

引用

页码：102 / 106

页数：5

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