| Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome. | |
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MedLine Citation:
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PMID: 8982953 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Type I carbohydrate-deficient glycoprotein (CDG) syndrome is a genetic multisystem disorder generally without overt renal problems. We report a neonate with neurological abnormalities and congenital nephrotic syndrome of diffuse mesangial sclerosis type. Serum transferrin isoelectric focusing showed the typical abnormalities of type I CDG syndrome. Normal transferrin focusing findings in other patients with similar renal problems excluded the possibility of a secondary biochemical phenomenon. The diagnosis of type I CDG syndrome was confirmed by demonstration of a deficiency of phosphomannomutase. No evidence of pontocerebellar atrophy was found in imaging or at autopsy. We conclude that congenital nephrotic syndrome may occur in type I CDG syndrome, and that this diagnosis should be considered in patients with congenital nephrotic syndrome. Absence of pontocerebellar atrophy does not exclude the diagnosis of type I CDG syndrome. |
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Authors:
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M S van der Knaap; R A Wevers; L Monnens; C Jakobs; J Jaeken; J A van Wijk |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 19 ISSN: 0141-8955 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 1996 |
Date Detail:
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Created Date: 1997-03-20 Completed Date: 1997-03-20 Revised Date: 2007-03-21 |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 787-91 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Free University Hospital, Amsterdam, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Carbohydrate-Deficient Glycoprotein Syndrome
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diagnosis* Humans Infant, Newborn Male Nephrotic Syndrome / congenital* Phenotype |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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