Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.
Pediatr Int
; 57(1): 177-9, 2015.
Article
em En
| MEDLINE
| ID: mdl-25711261
ABSTRACT
Congenital nephrotic syndrome (CNS) is a rare disease inherited as an autosomally recessive trait and defined as proteinuria manifesting at birth or in the first 3 months of life. The classical form is the Finnish type of CNS (CNF), which is caused by mutations in the nephrin gene (NPHS1). The classical findings include prematurity, large placenta and massive proteinuria. Minor cardiac findings have been reported as a minor functional disorder but CNS with major cardiac malformation is rare. Here we report the case of a Turkish child with CNS with small indel mutation (c.614_621delCACCCCGGinsTT) in exon 6 of NPHS1 and also major cardiac malformation who did not develop end-stage renal disease until the age of 5 years.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
DNA
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Cardiopatias Congênitas
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Proteínas de Membrana
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Mutação
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Síndrome Nefrótica
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Female
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Humans
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Newborn
Idioma:
En
Revista:
Pediatr Int
Assunto da revista:
PEDIATRIA
Ano de publicação:
2015
Tipo de documento:
Article