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Journals / Tüberküloz ve Toraks / 2022 / Cilt: 70 - Sayı: 1

The investigated case of etiology of chylous pleural effusion: Ataxia-telangiectasia

Şilöz plevral effüzyon etiyolojisi araştırılan olgu: Ataksi-telenjiektazi

Zeynep YILMAZ
Yavuz HAVLUCU
Deniz KIZILIRMAK
Pınar ÇELİK
Işıl SAK
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)

Our case, who was diagnosed as ataxia-telangiectasia while investigating the etiology of chylous pleural effusion, is presented because of its rare occurrence.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Ataxia-telangiectasia is an autosomal recessive, rare, neurodegenerative multisystem disorder characterized by ataxia-telangiectasia, cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure associated with increased malignancy risk.
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Key Findings & Data:Clinical diagnosis is made with ataxia-telangiectasia mutated (ATM) gene.
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Conclusion & Impact:Our case, who was diagnosed as ataxia-telangiectasia while investigating the etiology of chylous pleural effusion, is presented because of its rare occurrence.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Ataxia-telangiectasia is an autosomal recessive, rare, neurodegenerative multisystem disorder characterized by ataxia-telangiectasia, cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure associated with increased malignancy risk. Clinical diagnosis is made with ataxia-telangiectasia mutated (ATM) gene. Our case, who was diagnosed as ataxia-telangiectasia while investigating the etiology of chylous pleural effusion, is presented because of its rare occurrence.

Özet

Artmış malignite riski ile ilişkili olan ataksi-telenjiektazi, serebellar ataksi, okülokütanöz telenjiektazi, immün yetmezlik, ilerleyici solunum yetmezliği ile karakterize, otozomal resesif, nadir, nörodejeneratif multisistem bir hastalıktır. Ataksi-telenjiektazide mutasyona uğramış (ATM; Ataxia Telangiectasia Mutated) genin gösterilmesi ile klinik tanı doğrulanır. Şilöz plevral effüzyon etiyolojisi araştırılırken ataksitelenjiektazi tanısı alan olgu, nadir görülmesi nedeniyle sunulmuştur.

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Cite This Article

YILMAZ, Z., HAVLUCU, Y., KIZILIRMAK, D., ÇELİK, P., SAK, I. (2022). The investigated case of etiology of chylous pleural effusion: Ataxia-telangiectasia. Tüberküloz ve Toraks, Cilt: 70 - Sayı: 1, 102–106. https://ajindex.com/articles/618270

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