Abstract
Background
This study determined the family history and clinical features that suggested autosomal recessive rather than X-linked Alport syndrome.
Methods
All patients had the diagnosis of Alport syndrome and the mode of inheritance confirmed by genetic testing, and underwent examination at a single centre.
Results
Patients comprised 9 males and 6 females with autosomal recessive Alport syndrome, and 18 males and 22 females with X-linked disease. Fourteen (93 %) individuals with autosomal recessive Alport syndrome developed early end-stage renal failure, all 15 had hearing loss, and most had lenticonus (12, 80 %), and a central (13, 87 %) or peripheral (13, 87 %) retinopathy. These features occurred as often as in males with X-linked disease. Females with autosomal recessive inheritance were less likely to have an affected family member in another generation (p = 0.01) than females with X-linked disease. They were more likely to have renal failure (p = 0.003), hearing loss (p = 0.02) and lenticonus (p < 0.001). Fifty percent had a central retinopathy compared with 18 % with X-linked disease (p = 0.14), but peripheral retinopathy prevalence was not different (p = 0.64). Nonsense mutations accounted for 67 % (8/12) of these disease-causing mutations.
Conclusions
Autosomal recessive inheritance is increased in females with Alport syndrome and early onset renal failure, hearing loss, lenticonus, and, possibly, central retinopathy.
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Acknowledgements
We would like to thank the many patients and their families who took part in these studies. This work was funded in part by the Alport Foundation of Australia.
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This work was presented as a poster at the American Society of Nephrology meeting in San Diego in October 2012. The mutations in these patients have been described in a separate publication.
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Wang, Y., Sivakumar, V., Mohammad, M. et al. Clinical and genetic features in autosomal recessive and X-linked Alport syndrome. Pediatr Nephrol 29, 391–396 (2014). https://doi.org/10.1007/s00467-013-2643-0
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DOI: https://doi.org/10.1007/s00467-013-2643-0