An intriguing association of Turner syndrome with severe nephrotic syndrome: searching for a diagnosis

Lupus. 2016 Oct;25(11):1266-8. doi: 10.1177/0961203316636469. Epub 2016 Mar 1.

Abstract

Systemic lupus erythematosus (SLE) is a chronic disease caused by an aberrant autoimmune response, with a large spectrum of clinical manifestations. It strikingly affects women. Recent papers reveal that the men with Klinefelter syndrome (47, XXY) have a higher incidence of lupus than the men in the general population, similar with that of genotypic females. On the other hand, there is a great lack of information regarding the association of SLE with Turner syndrome, but it seems to be a lower risk for females with Turner to develop SLE. We present a rare association of a Turner syndrome with SLE, with negative immunology for SLE and with diagnosis made on renal biopsy. These data suggest that the presence of two X chromosomes may predispose to SLE, the ligand (CD40 ligand) for one of the genes that contributes to the pathogenesis of SLE being located on the X chromosome.

Keywords: Systemic lupus erythematosus; Turner’s syndrome; X chromosome; nephrotic syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, X
  • Cyclophosphamide / administration & dosage*
  • Cyclophosphamide / therapeutic use
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Lupus Erythematosus, Systemic / complications
  • Lupus Erythematosus, Systemic / drug therapy
  • Lupus Erythematosus, Systemic / genetics
  • Methylprednisolone Hemisuccinate / administration & dosage*
  • Methylprednisolone Hemisuccinate / therapeutic use
  • Nephrotic Syndrome / complications*
  • Nephrotic Syndrome / drug therapy
  • Treatment Outcome
  • Turner Syndrome / complications*
  • Turner Syndrome / genetics*

Substances

  • Methylprednisolone Hemisuccinate
  • Cyclophosphamide