Open AccessSchimke immune-osseous dysplasia: A case report
Author(s) -
Ashraf Bakr,
Riham Eid,
Amr Sarhan,
Ayman Hammad,
Ahmed M El-Refaey,
Atef Elmougy,
Mohamed M Zedan,
Fatma El-Husseini
Publication year - 2015
Publication title -
saudi journal of kidney diseases and transplantation/našrat amraḍ wa zira'aẗ al-kulaẗ
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.268
H-Index - 30
eISSN - 2320-3838
pISSN - 1319-2442
DOI - 10.4103/1319-2442.164585
Subject(s) - medicine , short stature , dysplasia , nephrotic syndrome , immune system , focal segmental glomerulosclerosis , dermatology , pediatrics , pathology , immunology , glomerulonephritis , kidney
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.