Importanţa testării genetice la adolescenţii cu sindrom nefrotic corticorezistent – Prezentări de caz

Translated title of the contribution: The importance of genetic testing in adolescent-onset steroid-resistant nephrotic syndrome - Case report

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

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Translated title of the contributionThe importance of genetic testing in adolescent-onset steroid-resistant nephrotic syndrome - Case report
Original languageRomanian
Pages (from-to)311-320
Number of pages10
JournalRevista Romana de Medicina de Laborator
Volume22
Issue number3
DOIs
Publication statusPublished - Sep 1 2014

Keywords

  • Adolescent
  • Focal segmental glomerulosclerosis
  • Steroid-resistant nephrotic syndrome
  • WT1

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Medical Laboratory Technology
  • Biochemistry, medical

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