| Nephrotic syndrome with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis. | |
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MedLine Citation:
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PMID: 17468528 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe a 10-year-old boy with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis who presented with nephrotic syndrome. DNA analysis revealed deletion of the Steroid Sulfatase (STS) gene. STS deficiency in X-linked ichthyosis leads to cholesterol sulfate accumulation, which induces transglutaminase-1 dysfunction. Since the slit diaphragm of the glomerular epithelial cell is a modified adherens junction, the accumulation of cholesterol sulfate could interfere with the normal slit diaphragm function of the glomerular visceral epithelial cell, resulting in nephrotic range proteinuria. The child went into remission on oral prednisolone. |
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Authors:
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Sriram Krishnamurthy; Seema Kapoor; Sangeeta Yadav |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Indian pediatrics Volume: 44 ISSN: 0019-6061 ISO Abbreviation: Indian Pediatr Publication Date: 2007 Apr |
Date Detail:
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Created Date: 2007-04-30 Completed Date: 2007-06-14 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 2985062R Medline TA: Indian Pediatr Country: India |
Other Details:
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Languages: eng Pagination: 301-3 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Maulana Azad Medical College and Associated Lok Nayak Hospital, New Delhi 110 002, India. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child Gene Deletion* Humans Ichthyosis, X-Linked / diagnosis, genetics*, pathology Kallmann Syndrome / diagnosis, genetics*, pathology Kidney / abnormalities* Male Nephrotic Syndrome / diagnosis, genetics*, pathology Steryl-Sulfatase / genetics* |
| Chemical | |
Reg. No./Substance:
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EC 3.1.6.2/Steryl-Sulfatase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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