Schimke immune-osseous dysplasia: A case report

Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondylo-epiphyseal dysplasia (SED), progressive renal insufficiency beginning as steroid-resistant nephrotic syndrome (SRNS) and defective cellular immunity. This article reports a case from Egypt with a mild form of SIOD. A 14.5-year-old male patient presented with disproportionate short stature, SRNS (focal and segmental glomerulosclerosis), laboratory evidence of cellular immune deficiency and radiologic characteristics of SED. He died at the age of 16.5 years with bone marrow failure and severe pneumonia. To the best of our knowledge, this is the first case of SIOD to be reported from Egypt

Fifteen years of kidney biopsies in children: A single center in Egypt

This study retrospectively investigates the indications and results of renal biopsy in children to determine the patterns of childhood kidney disease in a single tertiary children′s hospital in Egypt. We included all the patients who underwent ultrasound-guided renal biopsy from 1998 to 2012. All the kidney biopsies were studied under light microscopy, while immunofluorescence and electron microscopy were performed when indicated. A total of 1246 renal biopsies were performed over 15 years, on 1096 patients. The mean age of the patients at the time of biopsy was 9.2 ± 3.7 years. The main indication for a biopsy was the steroid-resistant nephrotic syndrome (n = 354, 28.4%), followed by the atypical nephrotic syndrome (n = 250, 20.1%), and renal abnormalities in the systemic diseases (n = 228, 18.3 %). In the 1226 pathologically diagnosed specimens, primary glomerulonephritis was the most common finding (n = 826, 67.4%), followed by secondary glomerulonephritis (n = 238, 19.4%). The most common causes of primary glomerulonephritis were Minimal Change Disease (MCD) (n = 267, 21.8%), diffuse proliferative glomerulonephritis (n = 188, 15. 3%), and focal proliferative glomerulonephritis (n = 164, 13.3%). Lupus nephritis (n = 209, 17%) was the most common cause of secondary glomerulonephritis. We conclude that the steroid-resistant nephrotic syndrome was the most frequent indication for biopsy and minimal change disease was the most common histopathological finding in our population