Discordant evolution of nephrotic syndrome in mono- and dizygotic twins

Gian Marco Ghiggeri, Monica Dagnino, Stefano Parodi, Cristina Zennaro, Antonio Amoroso, Francesco Pugliese, Francesco Perfumo

Research output: Contribution to journalArticlepeer-review

Abstract

Twins represent a powerful resource for revealing multifactorial mechanisms in human diseases. Few reports are available on nephrotic syndrome in twins, and most furnish only a partial description of genetic identity based on human leukocyte antigens (HLA) analysis. We describe two pairs of mono and dizygotic twins with nephrotic syndrome who presented discordant outcomes in terms of length and required therapies. In one case, evolution to focal glomerulosclerosis was also documented. The basic molecular work-up included analysis of concordance based on 10 polymorphic markers (D3S1358, vVA, FGA, amelogenin, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820) and exclusion of the major slit-diaphragm gene mutation (NPHS2, CD2AP, WT1) causing nephrotic syndrome. To our knowledge, this is the first description of long-term outcome in mono- and dizygotic twins with proven genetic concordance. Discordant outcomes indicate a major influence of environmental and/or epigenetic multifactorial mechanisms on persistence and evolution of the disease to focal-segmental glomerulosclerosis.

Original languageEnglish
Pages (from-to)419-422
Number of pages4
JournalPediatric Nephrology
Volume21
Issue number3
DOIs
Publication statusPublished - Mar 2006

Keywords

  • FSGS
  • Nephrotic syndrome
  • Twins

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health

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