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A case of FLNA gene mutation with respiratory insufficiency and periventricular heterotopia
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.
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Texto completo: 1 Base de dados: WPRIM Assunto principal: Braço / Pneumotórax / Respiração / Respiração Artificial / Insuficiência Respiratória / Ataxia / Cromossomo X / Citoesqueleto / Citoesqueleto de Actina / Citoplasma Limite: Female / Humans / Infant País como assunto: Asia Idioma: Ko Ano de publicação: 2019 Tipo de documento: Article
Texto completo: 1 Base de dados: WPRIM Assunto principal: Braço / Pneumotórax / Respiração / Respiração Artificial / Insuficiência Respiratória / Ataxia / Cromossomo X / Citoesqueleto / Citoesqueleto de Actina / Citoplasma Limite: Female / Humans / Infant País como assunto: Asia Idioma: Ko Ano de publicação: 2019 Tipo de documento: Article