Transbronchial cryobiopsy proven amyloid diffuse cystic lung disease complicating a transthyretin mutated (ATTRm) amyloidosis: a case report

被引：2

作者：

Gaultier, Sebastien ^{[1
]}

Puscas, Tania ^{[2
]}

Pastre, Jean ^{[3
]}

Gibault, Laure ^{[4
]}

Arlet, Jean-Benoit ^{[1
]}

Cauquil, Cecile ^{[5
]}

Michon, Adrien ^{[1
]}

机构：

[1] Univ Paris Cite, Hop Europeen Georges Pompidou, AP HP, Serv Med Interne, 20 Rue Leblanc, F-750015 Paris, France

[2] Univ Paris Cite, Hop Europeen Georges Pompidou, AP HP, Serv Cardiol, Paris, France

[3] Univ Paris Cite, Hop Europeen Georges Pompidou, AP HP, Serv Pneumol, Paris, France

[4] Univ Paris Cite, Hop Europeen Georges Pompidou, AP HP, Serv Anat Pathol, Paris, France

[5] Hop Univ Paris Saclay, Hop Bicetre, Serv Neurol, Le Kremlin Bicetre, France

来源：

THERAPEUTIC ADVANCES IN RESPIRATORY DISEASE | 2023年 / 17卷

关键词：

diffuse cystic lung disease; hereditary transthyretin amyloidosis; pulmonary cryobiopsy; Val122Ile ATTRm amyloidosis; CARDIAC AMYLOIDOSIS; BIOPSY; VARIANT;

D O I：

10.1177/17534666231178690

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

We present a case report of transbronchial cryobiopsy proven diffuse amyloid cystic lung disease complicating a homozygous Val122Ile (V122I) transthyretin mutated amyloidosis (ATTRm). To the best of our knowledge, this is the first case in the literature reporting such pulmonary lesions in ATTRm amyloidosis, and notably diagnosed through cryobiopsy. A 51-year-old man from Mali with a past medical history of bilateral carpal tunnel syndrome presented erectile dysfunction, asthenia and worsening dyspnoea over the past year. He presented signs of cardiac failure; histological and radiological investigations diagnosed cardiac amyloidosis. He was found homozygote for the V122I mutation in transthyretin. A diffuse cystic lung disease (DCLD) was noted on computed tomography (CT) scan. We performed a transbronchial pulmonary cryobiopsy that revealed histological transthyretin amyloid deposits. This case report illustrates the safety and usefulness of cryobiopsy in the setting of DCLD and extends ATTRm amyloidosis as a possible cause of DCLD.

引用

页数：5

共 1 条

[1] Cystic lung lesion following transbronchial lung cryobiopsy: Case report and systematic review
Malegaonkar, Srikant Kashinath
Sehgal, Inderpaul Singh
Muthu, Valliappan
Agarwal, Ritesh
Bal, Amanjit
Dhooria, Sahajal
LUNG INDIA, 2023, 40 (03) : 267 - 270

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