| Kidney in Galloway-Mowat syndrome: clinical spectrum with description of pathology. | |
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MedLine Citation:
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PMID: 8072253 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The Galloway-Mowat syndrome, a rare inherited disorder, is characterized by congenital microcephaly with hypotonia and developmental delay, often hiatus hernia, and nephrotic syndrome manifested in infancy or in early childhood. The glomerular lesion has been poorly characterized in the few previous reports of this syndrome. We studied three siblings with microcephaly and nephrotic syndrome occurring during the first two weeks of life. Hematuria, glycosuria and renal failure were also present. Renal biopsy and postmortem specimens of two patients were studied. Glomerular structure was disorganized; capillary lumina were of varying calibers, capillary walls were adherent to one another, and mesangial zones were poorly demarcated. Glomerular basement membrane ultrastructure was markedly altered. The normal trilaminar structure was obscured or replaced by flocculent material; furthermore, 6 to 8 nm fibrils of unknown nature permeated the space between endothelial and epithelial cells. Non-glomerular basement membranes were unaltered in appearance. This syndrome apparently represents, in part, a new disorder of glomerular basement membrane formation and function. |
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Authors:
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A H Cohen; M C Turner |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Kidney international Volume: 45 ISSN: 0085-2538 ISO Abbreviation: Kidney Int. Publication Date: 1994 May |
Date Detail:
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Created Date: 1994-09-27 Completed Date: 1994-09-27 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 0323470 Medline TA: Kidney Int Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 1407-15 Citation Subset: IM |
Affiliation:
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Department of Pathology, Cedars-Sinai Medical Center, Los Angeles, California. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Basement Membrane
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ultrastructure Female Growth Disorders / genetics Hernia, Hiatal / genetics* Humans Infant, Newborn Kidney Glomerulus / ultrastructure* Male Microcephaly / genetics* Nephrotic Syndrome / genetics*, pathology* Syndrome |
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