Congenital Nephrotic Syndrome - Finish Type.

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.

• Authors: Lidvana Spahiu, Besart Merovci, Haki Jashari, Arbnore Batalli Këpuska, Blerta Elezi Rugova
• Journal: Medical archives (Sarajevo, Bosnia and Herzegovina) (Med Arch) Vol. 70 Issue 3 Pg. 232-4 (Jun 2016) ISSN: 0350-199X [Print] Bosnia and Herzegovina
• PMID: 27594755 (Publication Type: Case Reports, Journal Article)

Chemical References

• Albumins
• Diuretics
• Membrane Proteins
• nephrin

Topics

• Albumins (administration & dosage)
• Diuretics (administration & dosage)
• Failure to Thrive (physiopathology, therapy)
• Genetic Testing (methods)
• Humans
• Infant
• Infusions, Intravenous
• Male
• Membrane Proteins (genetics)
• Mutation, Missense
• Nephrotic Syndrome (diagnosis, physiopathology, therapy)
• Peritoneal Dialysis
• Referral and Consultation