| Atypical Alport syndrome associated with a novel COL4A5 mutation. | |
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MedLine Citation:
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PMID: 19281745 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Alport syndrome is a progressive hereditary renal disease. Mutations in the genes encoding for three members of the type IV collagen protein family have been found to be the cause of the disease. Alport syndrome is often associated with sensorineural hearing loss and ocular abnormalities, and patients suffering from typical Alport syndrome usually develop end stage renal disease during adolescence or young adulthood. Here we report on a family with atypical Alport disease initially presenting as hereditary focal and segmental glomerulosclerosis. Genetic testing identified a previously undescribed COL4A5 mutation as cause of the disease. |
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Authors:
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K H?pker; M C Liebau; C Friederichsohn; R Waldherr; T Benzing |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Clinical nephrology Volume: 71 ISSN: 0301-0430 ISO Abbreviation: Clin. Nephrol. Publication Date: 2009 Mar |
Date Detail:
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Created Date: 2009-03-13 Completed Date: 2009-05-08 Revised Date: 2010-03-08 |
Medline Journal Info:
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Nlm Unique ID: 0364441 Medline TA: Clin Nephrol Country: Germany |
Other Details:
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Languages: eng Pagination: 321-5 Citation Subset: IM |
Affiliation:
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Renal Division, Department of Medicine and Centre for Molecular Medicine Cologne, University of Cologne, Heidelberg, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Collagen Type IV / genetics* Female Humans Male Middle Aged Mutation* Nephritis, Hereditary / genetics* Pedigree |
| Chemical | |
Reg. No./Substance:
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0/COL4A5 protein, human; 0/Collagen Type IV |
| Comments/Corrections | |
Erratum In:
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Clin Nephrol. 2010 Feb;73(2):172 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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