A case of FLNA gene mutation with respiratory insufficiency and periventricular heterotopia
Allergy, Asthma & Respiratory Disease
;
: 158-164, 2019.
Artículo
en 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Brazo
/
Neumotórax
/
Respiración
/
Respiración Artificial
/
Insuficiencia Respiratoria
/
Ataxia
/
Cromosoma X
/
Citoesqueleto
/
Citoesqueleto de Actina
/
Citoplasma
Límite:
Femenino
/
Humanos
/
Lactante
País/Región como asunto:
Asia
Idioma:
Coreano
Revista:
Allergy, Asthma & Respiratory Disease
Año:
2019
Tipo del documento:
Artículo
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