Abstract
Schimke immuno-osseous dysplasia is a rare autosomal recessive multi-system disorder, with clinical features of growth retardation, spondylo-epiphyseal dysplasia, nephrotic syndrome and immunodeficiency beginning in childhood. Here, we report a new case, in a 10-year-old boy with characteristic symptoms of Schimke immuno-osseous dysplasia. The patient presented with short stature and, later, developed nephrotic syndrome and peritonitis. In addition, he had perinuclear anti-neutrophilic cytoplasmic antibody (p-ANCA)-positive arthritis. Renal pathology of the patients with this disease usually show focal segmental glomerulonephritis, whereas our patient had membranous nephropathy, which has not previously been reported.
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References
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Özdemir, N., Alpay, H., Bereket, A. et al. Membranous nephropathy in Schimke immuno-osseous dysplasia. Pediatr Nephrol 21, 870–872 (2006). https://doi.org/10.1007/s00467-006-0082-x
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DOI: https://doi.org/10.1007/s00467-006-0082-x