Congenital Nephrotic Syndrome - Finish Type.
BACKGROUND
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%.


METHODS
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.


CONCLUSIONS
Through this case we want to create awareness about diagnosis and treatment challenges in developing countries for rare congenital diseases.
Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Republic of Kosovo.
Lidvana
L
Spahiu
Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Republic of Kosovo.
Besart
B
Merovci
Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Republic of Kosovo; Department of Public Health and Clinical Medicine, Umeå University, Sweden.
Haki
H
Jashari
Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Republic of Kosovo.
Arbnore Batalli
AB
Këpuska
Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Republic of Kosovo.
Blerta Elezi
BE
Rugova
D000418:Albumins / Q000008:administration & dosage; D004232:Diuretics / Q000008:administration & dosage; D005183:Failure to Thrive / Q000503:physiopathology* / Q000628:therapy; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007223:Infant; D007262:Infusions, Intravenous; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009404:Nephrotic Syndrome / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy; D010530:Peritoneal Dialysis; D012017:Referral and Consultation
D000418:Albumins; D004232:Diuretics; D008565:Membrane Proteins; C113267:nephrin
CNS; Congenital Nephrotic Syndrome; Congenital Nephrotic Syndrome-Finnish Type; NPHS1