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.
Ashraf
A
Bakr
Department of Pediatric Nephrology, Mansoura University Children's Hospital, Mansoura, Egypt.
Riham
R
Eid
Amr
A
Sarhan
Ayman
A
Hammad
Ahmed Mahmoud
AM
El-Refaey
Atef
A
El-Mougy
Mohammed Magdy
MM
Zedan
Fatma
F
ElHusseini
D000293:Adolescent; D001161:Arteriosclerosis / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D018450:Disease Progression; D004534:Egypt; D017809:Fatal Outcome; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D008297:Male; D009404:Nephrotic Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D000081207:Primary Immunodeficiency Diseases; D011655:Pulmonary Embolism / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D013997:Time Factors