| Autor: |
Ashraf Bakr, Riham Eid, Amr Sarhan, Ayman Hammad, Ahmed Mahmoud El-Refaey, Atef El-Mougy, Mohammed Magdy Zedan, Fatma ElHusseini |
| Jazyk: |
angličtina |
| Rok vydání: |
2015 |
| Předmět: |
|
| Zdroj: |
Saudi Journal of Kidney Diseases and Transplantation, Vol 26, Iss 5, Pp 987-991 (2015) |
| Druh dokumentu: |
article |
| ISSN: |
1319-2442 |
| DOI: |
10.4103/1319-2442.164585 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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