The importance of non-invasive genetic analysis in the initial diagnostics of Alport syndrome in young patients

Alport syndrome is an important hereditary disorder characterized by nephritis and sometimes accompanied by impairment or loss of vision and hearing. The most common form of Alport syndrome is an X-linked dominant trait that has been associated with the gene COL4A5, one of the six types of IV collag...

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Bibliographic Details
Published in:Pediatric nephrology (Berlin, West) West), 2005-09, Vol.20 (9), p.1260-1264
Main Authors: Slajpah, Maja, Meglic, Anamarija, Furlan, Polonca, Glavac, Damjan
Format: Article
Language:English
Subjects:
Age Factors
Alport's syndrome
Biopsy
Child, Preschool
Children
Collagen
Collagen - genetics
Diagnosis
Families & family life
Female
Genes
Genetic aspects
Genetic Techniques
Genetic testing
Health aspects
Hearing loss
Humans
Infant
Male
Mutation
Nephritis, Hereditary - diagnosis
Nephritis, Hereditary - genetics
Nephrology
Patients
Pediatrics
Pedigree
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Summary:Alport syndrome is an important hereditary disorder characterized by nephritis and sometimes accompanied by impairment or loss of vision and hearing. The most common form of Alport syndrome is an X-linked dominant trait that has been associated with the gene COL4A5, one of the six types of IV collagen genes. More than 300 different mutations have been identified in the COL4A5 gene, and appear randomly along the whole gene. Three novel mutations, G198E, G3189D and G669R, were found in 5 young patients from 3 different Slovenian families. On the basis of the results of our study and the existing national register of Alport syndrome patients, we demonstrated that non-invasive methods, such as the genetic analysis of collagen genes, particularly in the case of young patients with undefined clinical features, may be of great importance and could diminish the need for invasive skin and renal biopsy. Our study showed the importance of molecular genetic data for the purpose of providing quick and precise diagnoses for affected family members and their offspring, particularly small children.
ISSN:0931-041X
1432-198X
DOI:10.1007/s00467-005-1975-9