Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.
Eur Respir J
; 46(1): 197-206, 2015 Jul.
Article
em En
| MEDLINE
| ID: mdl-25657025
ABSTRACT
Patients with interstitial lung disease due to surfactant protein C (SFTPC) mutations are rare and not well characterised. We report on all subjects collected over a 15-year period in the kids-lung register with interstitial lung disease and a proven SFTPC mutation. We analysed clinical courses, interventions and outcomes, as well as histopathological and radiological interrelations. 17 patients (seven male) were followed over a median of 3â
years (range 0.3-19). All patients were heterozygous carriers of autosomal dominant SFTPC mutations. Three mutations (p.L101P, p.E191â
K and p.E191*) have not been described before in the context of surfactant protein C deficiency. Patients with alterations in the BRICHOS domain of the protein (amino acids 94-197) presented earlier. At follow-up, one patient was healthy (2â
years), six patients were "sick-better" (2.8â
years, range 0.8-19), seven patients were "sick-same" (6.5â
years, 1.3-15.8) and three patients were "sick-worse" (0.3â
years, 0.3-16.9). Radiological findings changed from ground-glass to increasing signs of fibrosis and cyst formation with increasing age. Empiric treatments had variable effects, also in patients with the same genotype. Prospective studies with randomised interventions are urgently needed and can best be performed in the framework of international registers.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Pulmonares Intersticiais
/
Proteína C Associada a Surfactante Pulmonar
/
Mutação
Tipo de estudo:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Child
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Child, preschool
/
Female
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Humans
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Infant
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Male
/
Newborn
Idioma:
En
Revista:
Eur Respir J
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Alemanha