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Systemic lupus erythematosus and Wiskott-Aldrich syndrome in an Italian patient

Department of Nephrology, University Medical Centre Groningen, Groningen, The Netherlands g.monteferrante{at}int.umcg.nl

M Giani

Pediatric Nephrology Unit, Ospedale Policlinico Maggiore, Fondazione-Mangiagalli e IRCCS Regina Elena, Milano, Italy

MC van den Heuvel

Department of Pathology, University Medical Centre Groningen, Groningen, The Netherlands

Systemic lupus erythematosus has not yet been associated with mutations in the Wiskott-Aldrich syndrome gene; moreover, the time courses of platelet number and size in patients with Wiskott-Aldrich syndrome are unknown. In this case, we present the time trends of platelet count and volume and the histopathology of the kidney of a patient with systemic lupus erythematosus and a mutation in the Wiskott-Aldrich syndrome gene. The patient suffered from congenital recessive X-linked thrombocytopenia, and he developed systemic lupus erythematosus at the age of 12 years. Thus, his disease was reclassified as Wiskott-Aldrich syndrome, class 5. The g.257G > A mutation in the Wiskott-Aldrich syndrome gene and reduced expression of the specific messenger were revealed by molecular analyses.

Key Words: kidney • systemic lupus erythematosus • thrombocytopenia • Wiskott-Aldrich syndrome

Lupus, Vol. 18, No. 3, 273-277 (2009)
DOI: 10.1177/0961203308095000


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