RRML - The importance of genetic testing in adolescent-onset steroid-resistant nephrotic syndrome - Case report
AMLR

ISSN online: 2284-5623

ISSN-L: 1841-6624

Rejection rate (2020): 75%

Română English

Journal Metrics

Impact Factor 0.5
Five Year Impact Factor 0.5
JCI 0.12

Advanced search

Top 10 downloaded articles
- April 2024 -
 
A comprehensive review of Prof... 25
Recomandarea comună EFLM-COLA... 15
Anti-thyroid peroxidase (TPO) ... 11
Monocyte to high-density lipop... 10
Understanding the key differen... 9
Romanian Review of Laboratory ... 7
Understanding the pathogenesis... 7
Predictive value of expression... 7
Function of the S1P pathway in... 6
The importance of tumor marker... 5

Log in

Concept, Design & Programming
Dr. Adrian Man
   
 
Nr. 22(3)/2014 DOI:10.2478/rrlm-2014-0031
XML
TXT

The importance of genetic testing in adolescent-onset steroid-resistant nephrotic syndrome - Case report

Zsuzsanna Gáll, Éva Kiss, Kálmán Tory, Attila Fintha, Carmen Duicu


Abstract:

Approximately 10-20% of children and 40% of adults with idiopathic nephrotic syndrome are steroid resistant and progress to end-stage renal disease requiring dialysis or renal transplantation. In these cases, renal histology typically shows focal segmental glomerulosclerosis. Mutations in NPHS1, NPHS2, WT1, CD2AP and ACTN4 genes located on different chromosomes, expressed by glomerular podocytes, have been identified in patients with steroid-resistant nephrotic syndrome. The authors report two cases of adolescent-onset steroid-resistant nephrotic syndrome. Both cases had similar clinical and histopathological manifestations, with different prognosis and evolution due to different mechanisms leading to proteinuria: an acquired and a genetic form. The first case, a 16 year old girl presented the onset of the disease with massive, generalized edema, secondary hypothyroidism and high blood pressure. Evolution was favorable under cyclosporine therapy. The second case, a 13-years-old adolescent girl, presented an insidious onset of the disease with mild edema. Genetic testing revealed a mutation in the WT1 gene. The patient developed end-stage kidney failure eight months after the onset of the disease and following kidney transplant had a favorable evolution. Histological examination of the renal biopsy specimen showed focal segmental glomerulosclerosis in both cases. Conclusions: Genetic forms of nephrotic syndrome do not respond to immunosuppressive therapy and may progress to end-stage renal disease, but after kidney transplantation relapse is not expected, in contrast to the immune form. The early genetic diagnosis in steroid-resistant nephrotic syndrome is time-consuming, but is important for proper clinical management of the patients, prognosis and genetic counseling of the families.

Keywords: steroid-resistant nephrotic syndrome, adolescent, WT1, focal segmental glomerulosclerosis

Received: 8.5.2014
Accepted: 9.8.2014
Published: 6.9.2014

 
  PDF Download full text PDF
(797 KB)
     
 
How to cite
Gáll Z, Kiss É, Tory K, Fintha A, Duicu C. The importance of genetic testing in adolescent-onset steroid-resistant nephrotic syndrome - Case report. Rev Romana Med Lab. 2014;22(3):311-9. DOI:10.2478/rrlm-2014-0031