| Congenital disorders of glycosylation: a rare cause of nephrotic syndrome. | |
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MedLine Citation:
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PMID: 19474279 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Congenital disorders of glycosylation (CDG) are inborn errors of metabolism presenting with multi-system organ involvement due to defective glycosylation of glycoproteins. We report here a case of microcephaly, hypotonia, seizure disorder and severe developmental delay since infancy in whom screening for CDG with transferring isoelectric focussing (TIEF) revealed a type I pattern. Following investigation, the specific defect in glycosylation remains to be identified; hence, a diagnosis of CDG Ix (type unknown) was made. At the age of 15-months the patient developed nephrotic syndrome and renal biopsy indicated a histopathological diagnosis of diffuse mesangial sclerosis on histopathology. Since cases of CDG Ix may often develop hypoalbuminaemia secondary to malabsorption or liver disease, this case highlights the need for additional regular monitoring for glomerular proteinuria, and indicates that a diagnosis of nephrotic syndrome should be considered in all types of CDG. Furthermore, we propose that early treatment with anti-proteinuric agents may be necessary to limit proteinuria and slow disease progression. |
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Authors:
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Manish D Sinha; Catherine Horsfield; Debbie Komaromy; Caroline J Booth; Michael P Champion |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-05-27 |
Journal Detail:
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Title: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association Volume: 24 ISSN: 1460-2385 ISO Abbreviation: Nephrol. Dial. Transplant. Publication Date: 2009 Aug |
Date Detail:
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Created Date: 2009-07-17 Completed Date: 2009-10-22 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8706402 Medline TA: Nephrol Dial Transplant Country: England |
Other Details:
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Languages: eng Pagination: 2591-4 Citation Subset: IM |
Affiliation:
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Department of Paediatric Nephrology, Evelina Children's Hospital, Guys & St Thomas NHS Foundation Trust, London SE1 7EH, UK. manish.sinha@gstt.nhs.uk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple* Carbohydrate-Deficient Glycoprotein Syndrome / complications*, diagnosis Glycosylation Humans Infant Male Nephrotic Syndrome / etiology*, pathology |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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