CASE OF NON-SEVERE CONGENITAL NEPHROTIC SYNDROME
| Autor: | I. S. Kostushina, T. V. Margieva, T. N. Gusarova, G. T. Yakhyaeva, L. S. Namazova-Baranova, A. A. Pushkov, K. V. Savost'yanov |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Pediatrics
medicine.medical_specialty Pathology congenital nephrotic syndrome RM1-950 Disease Nephrin children medicine genetics Congenital nephrotic syndrome cyclosporine a Proteinuria biology business.industry nphs1 nephrin nphs2 medicine.disease Molecular analysis Patient management biology.protein Podocin Therapeutics. Pharmacology medicine.symptom business Nephrotic syndrome podocin |
| Zdroj: | Pediatričeskaâ Farmakologiâ, Vol 11, Iss 6, Pp 62-65 (2014) |
| ISSN: | 1727-5776 |
| DOI: | 10.15690/pf.v11i6.1217 |
| Popis: | Nephrotic syndrome is a severe renal disease that may result in the end-stage renal failure despite the extent of proteinuria. Prognosis and tactics of therapy of nephrotic syndrome depend both on the morphological diagnosis and on the cause of the disease. It ought to be considered that congenital nephrotic syndrome is resistant to immunosuppressive therapy. However, several foreign authors demonstrate cases of immunosuppressive therapy effectiveness (steroids and cyclosporine A) in a range of familial cases of nephrotic syndrome. Timely detection of children with genetically caused nephrotic syndrome allows to define the patient management tactics in each case on time. This clinical case represents non-severe course of congenital nephrotic syndrome caused by an NPHS2 gene mutation, which had not before been described neither in Russian nor in foreign literature. The authors deem introduction of the molecular genetic analysis to the routine clinical practice for all cases of congenital nephrotic syndrome and steroid-resistant nephrotic syndrome reasonable. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|