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Journals / Tüberküloz ve Toraks / 2021 / Cilt: 69 - Sayı: 1

Birt Hogg Dube syndrome: Rare family lung disease

Birt Hogg Dube sendromu: Nadir görülen ailesel akciğer hastalığı

Recep SAVAŞ
Peyker TEMİZ
Pınar ÇELİK
Şaban Melih ŞİMŞEK
Pages
102–106
Publication Date
2022-11-06
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Since it is a genetic disease, the importance of follow-up and screening needs of patients and their relatives is emphasized.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Birt Hogg Dube syndrome is a rare disease characterized by autosomal dominant inherited multiple cysts in the lungs, renal tumors and skin fibrofolliculomas.
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Key Findings & Data:It was first described in 1977 by Birt et al.
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Conclusion & Impact:Since it is a genetic disease, the importance of follow-up and screening needs of patients and their relatives is emphasized.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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.

Özet

Birt Hogg Dube sendromu, otozomal dominant kalıtılan akciğerlerde multipl kistler, renal tümörler ve deride fibrofolikülomalar ile karakterize nadir bir hastalık olup ilk kez 1977’de Birt ve arkadaşları tarafından tanımlanmıştır. Burada semptomdan tanıya gidilen bir hasta ve 1. derece yakını sunulmakta, ayırıcı tanıda düşünülmesi gereken hastalıklar tartışılmaktadır. Genellikle tekrarlayan pnömotorakslar sonrası tanı konulmaktadır. Genetik bir hastalık olması nedeniyle hasta ve yakınlarının takip ve tarama gereksinimlerinin önemi vurgulanmaktadır.

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Cite This Article

SAVAŞ, R., TEMİZ, P., ÇELİK, P., ŞİMŞEK, Ş. M. (2022). Birt Hogg Dube syndrome: Rare family lung disease. Tüberküloz ve Toraks, Cilt: 69 - Sayı: 1, 102–106. https://ajindex.com/articles/618323

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References (12)

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