Lung Transplantation for FLNA-Associated Progressive Lung Disease.
J Pediatr
; 186: 118-123.e6, 2017 07.
Article
em En
| MEDLINE
| ID: mdl-28457522
ABSTRACT
OBJECTIVE:
To describe a series of patients with pathogenic variants in FLNA and progressive lung disease necessitating lung transplantation. STUDYDESIGN:
We conducted a retrospective chart review of 6 female infants with heterozygous presumed loss-of-function pathogenic variants in FLNA whose initial presentation was early and progressive respiratory failure.RESULTS:
Each patient received lung transplantation at an average age of 11 months (range, 5-15 months). All patients had pulmonary arterial hypertension and chronic respiratory failure requiring tracheostomy and escalating levels of ventilator support before transplantation. All 6 patients survived initial lung transplantation; however, 1 patient died after a subsequent heart-lung transplant. The remaining 5 patients are living unrestricted lives on chronic immunosuppression at most recent follow-up (range, 19 months to 11.3 years post-transplantation). However, in all patients, severe ascending aortic dilation has been observed with aortic regurgitation.CONCLUSIONS:
Respiratory failure secondary to progressive obstructive lung disease during infancy may be the presenting phenotype of FLNA-associated periventricular nodular heterotopia. We describe a cohort of patients with progressive respiratory failure related to a pathogenic variant in FLNA and present lung transplantation as a viable therapeutic option for this group of patients.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Insuficiência Respiratória
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Transplante de Pulmão
/
Filaminas
/
Hipertensão Pulmonar
/
Pneumopatias
Tipo de estudo:
Etiology_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Child
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Child, preschool
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Female
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Humans
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Infant
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
2017
Tipo de documento:
Article