AI Article Synopsis
- Congenital nephrotic syndrome of the Finnish type (CNF) is a rare genetic disorder more common in Finland, characterized by kidney issues that lead to excessive protein loss.
- A newborn male was diagnosed with CNF due to specific genetic mutations in the NPHS1 gene, despite having no family history of the condition.
- Identifying these genetic mutations early is crucial for effective treatment and for providing proper genetic counseling to the family.
Article Abstract
Congenital nephrotic syndrome of the Finnish type (CNF) is a rare autosomal recessive disorder. The incidence of CNF is relatively high in Finland but considerably lower in other countries. We encountered a male newborn with CNF, associated with compound heterozygous mutations in nephrosis 1, congenital, Finnish type (NPHS1). The patient was admitted to hospital as a preterm infant. Physical and laboratory findings fulfilled the diagnostic criteria of nephrotic syndrome, and were compatible with a diagnosis of CNF, but there was no family history of the disease. On genetic analysis of NPHS1 a paternally derived heterozygous frame-shift mutation caused by an 8 bp deletion, resulting in a stop codon in exon 16 (c.2156-2163 delTGCACTGC causing p.L719DfsX4), and a novel, maternally derived nonsense mutation in exon 15 (c.1978G>T causing p.E660X) were identified. Early genetic diagnosis of CNF is important for proper clinical management and appropriate genetic counseling.
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| http://dx.doi.org/10.1111/ped.13118 | DOI Listing |
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