A case of FLNA gene mutation with respiratory insufficiency and periventricular heterotopia
Allergy, Asthma & Respiratory Disease
;
: 158-164, 2019.
Artigo
em Coreano
| WPRIM
| ID: wpr-762189
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Braço
/
Pneumotórax
/
Respiração
/
Respiração Artificial
/
Insuficiência Respiratória
/
Ataxia
/
Cromossomo X
/
Citoesqueleto
/
Citoesqueleto de Actina
/
Citoplasma
Limite:
Feminino
/
Humanos
/
Lactente
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
Allergy, Asthma & Respiratory Disease
Ano de publicação:
2019
Tipo de documento:
Artigo
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