| Schimke immuno-osseous dysplasia. | |
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MedLine Citation:
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PMID: 17334480 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Schimke immuno-osseous dysplasia SIOD is a rare autosomal recessive disorder characterized by steroid resistant nephrotic syndrome, immune deficiency, and osseous dysplasia. SW/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 SMARCAL 1 is the gene responsible for SIOD but the underlying pathophysiologic mechanism is unclear, therefore, there is limited therapeutic options. To our best knowledge, less then 50 cases of SIOD have been published and we report 2 more cases with typical clinical and laboratory features from South of Iran. It is emphasized that this disorder should be considered in children with steroid resistant nephrotic syndrome and bone dysplasia. |
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Authors:
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Mitra Basiratnia; Mohammad H Fallahzadeh |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Saudi medical journal Volume: 28 ISSN: 0379-5284 ISO Abbreviation: Saudi Med J Publication Date: 2007 Mar |
Date Detail:
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Created Date: 2007-03-05 Completed Date: 2007-09-11 Revised Date: 2008-06-23 |
Medline Journal Info:
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Nlm Unique ID: 7909441 Medline TA: Saudi Med J Country: Saudi Arabia |
Other Details:
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Languages: eng Pagination: 457-60 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Nemazee Hospital, University of Medical Sciences, Shiraz, Iran. m_basiratnia@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis Bone Diseases, Developmental / diagnosis*, immunology Disease Progression Drug Resistance Fatal Outcome Female Humans Immunologic Deficiency Syndromes / diagnosis* Infant, Newborn Iran Male Nephrotic Syndrome / diagnosis*, drug therapy Rare Diseases Steroids / therapeutic use Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Steroids |
| Comments/Corrections | |
Erratum In:
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Saudi Med J. 2007 Jun;28(6):988 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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