A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant
| Autor: | Emanuela Boštjanči, Rina Rus, Sara Bertok, Gregor Nosan, Maja Frelih, Valentina Golob |
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| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
business.industry medicine.medical_treatment Case Report General Medicine medicine.disease Gastroenterology Nephrectomy Transplantation Internal medicine medicine Renal replacement therapy Hypoalbuminemia business Nephrotic syndrome Congenital nephrotic syndrome Kidney transplantation Rare disease |
| Zdroj: | Croatian Medical Journal Volume 62 Issue 2 |
| ISSN: | 1332-8166 0353-9504 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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