Document Detail

Diagnosis of Alport syndrome without biopsy?
MedLine Citation:
PMID:  17143627     Owner:  NLM     Status:  MEDLINE    
Alport syndrome (AS) is genetically heterogeneous. The gene COL4A5 is mutated in the more frequent X-linked dominant form of the disease whereas COL4A3 or COL4A4 are mutated in the autosomal recessive and dominant forms. Diagnosis of AS and determination of the mode of transmission are important because of the differences in prognosis and genetic counselling attached to these different forms. Recently, promising results have been obtained in Col4a3-null mice, an animal model for AS, with different therapeutic trials when administered early in the course of the disease, an additional reason for making early diagnosis of AS in children. Since the identification of the molecular basis of the disease, mutation screening is theoretically the best diagnostic approach, avoiding the use or renal or skin biopsy. However, for many reasons linked to the genetic heterogeneity of the disease, the large size of the three genes and the random distribution of the mutations all along these huge genes, this method is tedious, expensive and time consuming. Moreover, its sensitivity is reduced. For these reasons, evaluation of the expression of type IV collagen chains in the skin, and if necessary in the renal basement membrane, remains a useful tool for AS diagnosis. At this time, the indication for these different approaches, which are not mutually exclusive but complementary, depends on the patient clinical presentation and family history.
Marie Claire Gubler
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Publication Detail:
Type:  Comment; Journal Article     Date:  2006-12-02
Journal Detail:
Title:  Pediatric nephrology (Berlin, Germany)     Volume:  22     ISSN:  0931-041X     ISO Abbreviation:  Pediatr. Nephrol.     Publication Date:  2007 May 
Date Detail:
Created Date:  2007-04-26     Completed Date:  2007-07-23     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8708728     Medline TA:  Pediatr Nephrol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  621-5     Citation Subset:  IM    
INSERM U543, Hôpital Necker-Enfants Malades, Université René Descartes, Paris, France.
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MeSH Terms
Collagen / genetics
Genetic Techniques
Glomerular Basement Membrane / pathology
Kidney Failure, Chronic / etiology,  genetics
Linkage (Genetics)
Nephritis, Hereditary / diagnosis,  genetics*,  pathology
Reg. No./Substance:
Comment On:
Pediatr Nephrol. 2005 Sep;20(9):1260-4   [PMID:  15942778 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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