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Clinical and genetic features in autosomal recessive and X-linked Alport syndrome

Wang, Yanyan and Sivakumar, Vanessa and Mohammad, Mardhiah and Colville, Deb and Storey, Helen and Flinter, Frances and Dagher, Hayat and Savige, Judy (2014) Clinical and genetic features in autosomal recessive and X-linked Alport syndrome. Pediatric Nephrology, 29 (3). pp. 391-396. ISSN 0931-041X (O), 1432-198X (P)

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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 auto- somal 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 reces- sive 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.

Item Type: Article (Journal)
Additional Information: 5448/38535
Uncontrolled Keywords: Alport syndrome, Retinopathy, Nonsense mutations
Subjects: R Medicine > R Medicine (General)
Kulliyyahs/Centres/Divisions/Institutes: Kulliyyah of Allied Health Sciences > Department of Biomedical Science (Effective:1st July 2011)
Depositing User: Dr Mardhiah Mohammad
Date Deposited: 02 Oct 2014 15:58
Last Modified: 19 Sep 2017 16:22
URI: http://irep.iium.edu.my/id/eprint/38535

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