Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.
Pediatr Int
; 57(1): 177-9, 2015.
Article
in 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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
DNA
/
Heart Defects, Congenital
/
Membrane Proteins
/
Mutation
/
Nephrotic Syndrome
Type of study:
Diagnostic_studies
/
Risk_factors_studies
Limits:
Female
/
Humans
/
Newborn
Language:
En
Journal:
Pediatr Int
Journal subject:
PEDIATRIA
Year:
2015
Type:
Article