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...

Full description

Bibliographic Details
Main Authors:	Wang, Yanyan, Sivakumar, Vanessa, Mohammad, Mardhiah, Colville, Deb, Storey, Helen, Flinter, Frances, Dagher, Hayat, Savige, Judy
Format:	Article
Language:	English English English
Published:	Springer Berlin Heidelberg 2014
Subjects:	R Medicine (General)
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

id	iium-38535
recordtype	eprints
spelling	iium-385352017-09-19T08:22:19Z http://irep.iium.edu.my/38535/ Clinical and genetic features in autosomal recessive and X-linked Alport syndrome Wang, Yanyan Sivakumar, Vanessa Mohammad, Mardhiah Colville, Deb Storey, Helen Flinter, Frances Dagher, Hayat Savige, Judy R Medicine (General) 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. Springer Berlin Heidelberg 2014-03-01 Article PeerReviewed application/pdf en http://irep.iium.edu.my/38535/1/mardhiah_jurnal1.pdf application/pdf en http://irep.iium.edu.my/38535/4/WOS_Q1.pdf application/pdf en http://irep.iium.edu.my/38535/6/38535_Clinical%20and%20genetic%20features_SCOPUS.pdf 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) http://link.springer.com/article/10.1007%2Fs00467-013-2643-0 10.1007/s00467-013-2643-0
repository_type	Digital Repository
institution_category	Local University
institution	International Islamic University Malaysia
building	IIUM Repository
collection	Online Access
language	English English English
topic	R Medicine (General)
spellingShingle	R Medicine (General) Wang, Yanyan Sivakumar, Vanessa Mohammad, Mardhiah Colville, Deb Storey, Helen Flinter, Frances Dagher, Hayat Savige, Judy Clinical and genetic features in autosomal recessive and X-linked Alport syndrome
description	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.
format	Article
author	Wang, Yanyan Sivakumar, Vanessa Mohammad, Mardhiah Colville, Deb Storey, Helen Flinter, Frances Dagher, Hayat Savige, Judy
author_facet	Wang, Yanyan Sivakumar, Vanessa Mohammad, Mardhiah Colville, Deb Storey, Helen Flinter, Frances Dagher, Hayat Savige, Judy
author_sort	Wang, Yanyan
title	Clinical and genetic features in autosomal recessive and X-linked Alport syndrome
title_short	Clinical and genetic features in autosomal recessive and X-linked Alport syndrome
title_full	Clinical and genetic features in autosomal recessive and X-linked Alport syndrome
title_fullStr	Clinical and genetic features in autosomal recessive and X-linked Alport syndrome
title_full_unstemmed	Clinical and genetic features in autosomal recessive and X-linked Alport syndrome
title_sort	clinical and genetic features in autosomal recessive and x-linked alport syndrome
publisher	Springer Berlin Heidelberg
publishDate	2014
url	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
first_indexed	2023-09-18T20:55:22Z
last_indexed	2023-09-18T20:55:22Z
_version_	1777410268371877888

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

Similar Items