title: An intriguing association of Turner syndrome with severe nephrotic syndrome: searching for a diagnosis.
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.
authors.affiliation: Fundeni Clinical Institute, Department of Internal Medicine and Nephrology, Bucharest, Romania noir_amer@yahoo.com.
authors.forename: G
authors.initials: G
authors.lastname: Minzala
authors.affiliation: Fundeni Clinical Institute, Department of Internal Medicine and Nephrology, Bucharest, Romania.
authors.forename: G
authors.initials: G
authors.lastname: Ismail
mesh_terms: D000328:Adult; D041321:Chromosomes, Human, X; D003520:Cyclophosphamide / Q000008:administration & dosage* / Q000627:therapeutic use; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D008776:Methylprednisolone Hemisuccinate / Q000008:administration & dosage* / Q000627:therapeutic use; D009404:Nephrotic Syndrome / Q000150:complications* / Q000188:drug therapy; D016896:Treatment Outcome; D014424:Turner Syndrome / Q000150:complications* / Q000235:genetics*
chemical_list: D008776:Methylprednisolone Hemisuccinate; D003520:Cyclophosphamide
keywords: Systemic lupus erythematosus; Turner’s syndrome; X chromosome; nephrotic syndrome