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  • Title: Congenital Nephrotic Syndrome - Finish Type.
    Author: Spahiu L, Merovci B, Jashari H, Këpuska AB, Rugova BE.
    Journal: Med Arch; 2016 Jun; 70(3):232-4. PubMed ID: 27594755.
    Abstract:
    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.
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