| Hereditary nephropathy with hematuria (Alport's syndrome). | |
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MedLine Citation:
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PMID: 4905862 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Among 82 members and four generations of a French-Canadian family, 14 cases of hereditary nephropathy (Alport's syndrome) were documented. Five additional members of the family had died, probably because of this same illness. Deafness occurred in five family members with nephropathy and in one without renal disease. Ten of 12 affected males died in uremia before they had reached the age of 40 years. One of seven affected females died following a pregnancy. In two surviving patients, special investigations failed to elicit intrinsic tubular defects such as amino-aciduria, renal tubular acidosis, hyperphosphaturia or renal glucosuria. Systemic illness such as abnormal aminoacids in serum, primary hyperoxaluria, diabetes mellitus and infections were also excluded. Immunological defects were not demonstrable and the staining of renal biopsy tissue with fluorescein-labelled anti-beta(1)c, anti-IgG and antifibrinogen was negative. Renal tissue material of early, advanced and terminal hereditary nephropathy showed both tubular and interstitial, vascular and glomerular lesions. Electronmicroscopy showed marked thickening of tubular and glomerular basement membranes, increase of mesangial tissue and fusion of foot processes but failed to demonstrate "immune deposits." It is postulated therefore that hereditary nephropathy results from an inborn error of metabolism where an as yet unidentified metabolite damages the renal tissue as well as the acoustic nerve, analogous perhaps to the action of certain drugs, e.g. nephro-ototoxic antibiotics. |
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Authors:
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A Chiricosta; S L Jindal; J Metuzals; B Koch |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Canadian Medical Association journal Volume: 102 ISSN: 0008-4409 ISO Abbreviation: Can Med Assoc J Publication Date: 1970 Feb |
Date Detail:
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Created Date: 1970-04-02 Completed Date: 1970-04-02 Revised Date: 2010-06-22 |
Medline Journal Info:
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Nlm Unique ID: 0414110 Medline TA: Can Med Assoc J Country: CANADA |
Other Details:
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Languages: eng Pagination: 396-401 Citation Subset: AIM; IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Autopsy Child Child, Preschool Female Fluorescent Antibody Technique Hematuria Humans Kidney / pathology Male Microscopy, Electron Middle Aged Nephritis, Hereditary* / blood, etiology, genetics, immunology, pathology, urine Pedigree Serum Globulins / analysis |
| Chemical | |
Reg. No./Substance:
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0/Serum Globulins |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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