Clinical and genetic features in autosomal recessive and X-linked Alport syndrome
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 si...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English English English |
| Published: |
Springer Berlin Heidelberg
2014
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| Subjects: | |
| Online Access: | http://irep.iium.edu.my/38535/ http://irep.iium.edu.my/38535/ http://irep.iium.edu.my/38535/ http://irep.iium.edu.my/38535/1/mardhiah_jurnal1.pdf http://irep.iium.edu.my/38535/4/WOS_Q1.pdf http://irep.iium.edu.my/38535/6/38535_Clinical%20and%20genetic%20features_SCOPUS.pdf |
| Summary: | 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. |
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