Diagnosis of Alport syndrome without biopsy?

@article{Gubler2006DiagnosisOA,
  title={Diagnosis of Alport syndrome without biopsy?},
  author={Marie Claire Gubler},
  journal={Pediatric Nephrology},
  year={2006},
  volume={22},
  pages={621-625}
}
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… CONTINUE READING

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Genetics: A New Frontier in Otology.

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View 1 Excerpt

References

Publications referenced by this paper.
Showing 1-10 of 28 references

Alport syndrome and collagen IV nephropathy in Fourth Course on Genetics and renal Diseases

R Torra
Genoa. Book of Abstracts • 2006
View 1 Excerpt

Alport syndrome and collagen IV nephropathy in Fourth Course on Genetics and renal Diseases . June 8 – 10 , 2006 , Genoa

R Torra
2006

Bone-marrow-derived stem cells repair basement membrane collagen defects and reverse genetic kidney disease.

Proceedings of the National Academy of Sciences of the United States of America • 2006
View 1 Excerpt

Cyclosporine A treatment in pediatric patients with X-linked Alport syndrome : a single centre experience

A Legato, F Emma, L Massella
Pediatr Nephrol • 2006
View 1 Excerpt

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