Congenital Nephrotic Syndrome - Finish Type.

Autor:	Spahiu L; Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Republic of Kosovo., Merovci B; Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Republic of Kosovo., Jashari H; Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Republic of Kosovo; Department of Public Health and Clinical Medicine, Umeå University, Sweden., Këpuska AB; Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Republic of Kosovo., Rugova BE; Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Republic of Kosovo.
Jazyk:	angličtina
Zdroj:	Medical archives (Sarajevo, Bosnia and Herzegovina) [Med Arch] 2016 Jun; Vol. 70 (3), pp. 232-4. Date of Electronic Publication: 2016 May 31.
DOI:	10.5455/medarh.2016.70.232-234
Abstrakt:	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. Competing Interests: • The authors have no conflict of interest to disclose.
Databáze:	MEDLINE
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