Esej
https://doi.org/10.3325/cmj.2021.62.187
A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant
Valentina Golob
; General Hospital Murska Sobota, Murska Sobota, Slovenia
Gregor Nosan
; Department of Neonatology, Division of Pediatrics, University Medical Centre Ljubljana, Slovenia, Ljubljana, Slovenia
Sara Bertok
; Department of Endocrinology, Diabetes and Metabolic Diseases, Division of Pediatrics, University Medical Centre Ljubljana, Ljubljana, Slovenia
Maja Frelih
; Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
Emanuela Boštjančič
; Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
Rina Rus
; Department of Nephrology, Devision of Pediatrics, University Medical Centre Ljubljana, Ljubljana, Slovenia
Sažetak
Congenital nephrotic syndrome (CNS) is a rare disease
defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia, and edema presenting in the first three months
of life. It is most commonly caused by mutations in the
NPHS1 gene associated with nephrotic syndrome type 1,
also known as Finnish-type CNS, which is inherited in an
autosomal recessive manner. Symptomatic treatment with
intravenous albumins, vitamins, minerals, nutritional, and
hormonal supplementation and treatment of complications are mandatory. Children refractory to the symptomatic treatment are recommended to undergo nephrectomy and renal replacement therapy, preferably renal
transplantation. We report on a child with Finnish type CNS
with a NPHS1 mutation, which is the first case confirmed
by genetic study in Slovenia. We showed for the first time
that homozygous mutation c.2928-3del in the NPHS1 gene
caused exon 22 skipping, leading to a truncated protein
and Fin-minor phenotype.
Ključne riječi
Hrčak ID:
278127
URI
Datum izdavanja:
29.4.2021.
Posjeta: 324 *