A case of FLNA gene mutation with respiratory insufficiency and periventricular heterotopia
Allergy, Asthma & Respiratory Disease
; : 158-164, 2019.
Article
em Ko
| WPRIM
| ID: wpr-762189
Biblioteca responsável:
WPRO
ABSTRACT
Filamin A is an actin-binding protein and, in humans, is encoded by FLNA gene in the long arm of X chromosome. Filamin A plays a role in the formation of cytoskeleton by crosslinking actin filaments in cytoplasm. FLNA mutations affect cytoskeletal regulatory processes and cellular migrating abnormalities that result in periventricular heterotopia. A 5-month-old girl was hospitalized because of breathing difficulty and was diagnosed as having periventricular heterotopia with laryngomalacia, cricopharyngeal incoordination, pulmonary hypertension, and chronic lung disease. A genetic test was performed to find the cause of periventricular heterotopia, and FLNA gene mutation (c.5998+1G>A) was confirmed for the first time in Korea. After discharge, she developed respiratory failure due to a viral infection at 8 months of her age. In spite of management with mechanical ventilation, she died of pneumothorax and pulmonary hemorrhage. Herein, we report a case of FLNA gene mutation who presented with periventricular nodular heterotopia with respiratory insufficiency.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Braço
/
Pneumotórax
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Respiração
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Respiração Artificial
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Insuficiência Respiratória
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Ataxia
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Cromossomo X
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Citoesqueleto
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Citoesqueleto de Actina
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Citoplasma
Limite:
Female
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Humans
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Infant
País como assunto:
Asia
Idioma:
Ko
Ano de publicação:
2019
Tipo de documento:
Article