Congenital Nephrotic Syndrome - Finish Type
| Autor: | Blerta Elezi Rugova, Haki Jashari, Arbnore Batalli Këpuska, Lidvana Spahiu, Besart Merovci |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Pathology Nephrotic Syndrome Congenital Nephrotic Syndrome medicine.medical_treatment NPHS1 Mutation Missense Case Report medicine.disease_cause Peritoneal dialysis Nephrin 03 medical and health sciences 0302 clinical medicine 030225 pediatrics Albumins medicine Humans 030212 general & internal medicine Genetic Testing Diuretics Infusions Intravenous Congenital nephrotic syndrome Referral and Consultation Medicinsk genetik Mutation biology business.industry Incidence (epidemiology) Infant Membrane Proteins General Medicine medicine.disease Failure to Thrive Failure to thrive Congenital Nephrotic Syndrome-Finnish Type biology.protein medicine.symptom CNS business Nephrotic syndrome Peritoneal Dialysis Medical Genetics |
| Zdroj: | Medical Archives |
| Popis: | Introduction: Identification of the NPHS1 gene, which encodes nephrin, was followed by many studies demonstrating its mutation as a frequent cause of congenital nephrotic syndrome (CNS). While this gene is found in 98% of Finnish children with this syndrome, non-Finnish cases have lower level of incidence ranging from 39 to 80%. Case report: This report describes the clinical presentation of a two-week-old neonate who presented with periorbital and lower extremities edema, abdominal distention, heavy proteinuria, serum hypoproteinemia and failure to thrive. Genetic analysis revealed NHPS1 gene mutation leading to CNS-Finnish type diagnosis. Conclusion: Through this case we want to create awareness about diagnosis and treatment challenges in developing countries for rare congenital diseases. |
| Databáze: | OpenAIRE |
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