A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations

Background Female subjects with X-linked Alport syndrome have a single COL4A5 mutation, germ cell mosaicism in affected tissues and typically develop renal failure later or less often than male subjects. Women with two mutations are exceedingly rare, and usually have consanguineous parents or unipar...

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Main Authors:	Mohammad, Mardhiah, Nanra, Ranjit, Colville, Deb, Trevillian, Paul, Wang, Yanyan, Storey, Helen, Flinter, Frances, Savige, Judy
Format:	Article
Language:	English English
Published:	Springer Berlin Heidelberg 2014
Subjects:	R Medicine (General)
Online Access:	http://irep.iium.edu.my/38537/ http://irep.iium.edu.my/38537/ http://irep.iium.edu.my/38537/ http://irep.iium.edu.my/38537/1/mardhiah_jurnal2.pdf http://irep.iium.edu.my/38537/4/WOS_Q1.pdf

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recordtype	eprints
spelling	iium-385372018-06-20T07:16:19Z http://irep.iium.edu.my/38537/ A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations Mohammad, Mardhiah Nanra, Ranjit Colville, Deb Trevillian, Paul Wang, Yanyan Storey, Helen Flinter, Frances Savige, Judy R Medicine (General) Background Female subjects with X-linked Alport syndrome have a single COL4A5 mutation, germ cell mosaicism in affected tissues and typically develop renal failure later or less often than male subjects. Women with two mutations are exceedingly rare, and usually have consanguineous parents or uniparental disomy. We describe here a 20-year-old woman who inherited two different COL4A5 variants, one from her father (c.2677G>C) and one from her mother (c.384 +1 G>A). Case-diagnosis/treatment The index case had normal renal function, proteinuria and no clinically detectable hearing loss, or ocular abnormalities. Her father and paternal uncle devel- oped end-stage renal disease at 37 and 28 years respectively, together with hearing loss, but not lenticonus or central reti- nopathy. Her mother had mildly impaired renal function, proteinuria, hearing loss, but no ocular abnormalities. Her maternal grandfather and 22-year-old brother, both with this mutation, developed renal failure by 28 years with hearing loss, or had proteinuria and hearing loss respectively. Conclusion The index case has clinical features consistent with germ cell mosaicism of two COL45A mutations associ- ated with adult-onset renal failure, but no ocular abnormali- ties. Her risk of renal failure is high, but the rate of progression to end-stage disease depends on the underlying mutations, and disease modification with renin–angiotensin blockade. Springer Berlin Heidelberg 2014-03-01 Article PeerReviewed application/pdf en http://irep.iium.edu.my/38537/1/mardhiah_jurnal2.pdf application/pdf en http://irep.iium.edu.my/38537/4/WOS_Q1.pdf Mohammad, Mardhiah and Nanra, Ranjit and Colville, Deb and Trevillian, Paul and Wang, Yanyan and Storey, Helen and Flinter, Frances and Savige, Judy (2014) A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations. Pediatric Nephrology, 29 (3). pp. 481-485. ISSN 0931-041X (O), 1432-198X (P) http://link.springer.com/article/10.1007%2Fs00467-013-2682-6 10.1007/s00467-013-2682-6
repository_type	Digital Repository
institution_category	Local University
institution	International Islamic University Malaysia
building	IIUM Repository
collection	Online Access
language	English English
topic	R Medicine (General)
spellingShingle	R Medicine (General) Mohammad, Mardhiah Nanra, Ranjit Colville, Deb Trevillian, Paul Wang, Yanyan Storey, Helen Flinter, Frances Savige, Judy A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations
description	Background Female subjects with X-linked Alport syndrome have a single COL4A5 mutation, germ cell mosaicism in affected tissues and typically develop renal failure later or less often than male subjects. Women with two mutations are exceedingly rare, and usually have consanguineous parents or uniparental disomy. We describe here a 20-year-old woman who inherited two different COL4A5 variants, one from her father (c.2677G>C) and one from her mother (c.384 +1 G>A). Case-diagnosis/treatment The index case had normal renal function, proteinuria and no clinically detectable hearing loss, or ocular abnormalities. Her father and paternal uncle devel- oped end-stage renal disease at 37 and 28 years respectively, together with hearing loss, but not lenticonus or central reti- nopathy. Her mother had mildly impaired renal function, proteinuria, hearing loss, but no ocular abnormalities. Her maternal grandfather and 22-year-old brother, both with this mutation, developed renal failure by 28 years with hearing loss, or had proteinuria and hearing loss respectively. Conclusion The index case has clinical features consistent with germ cell mosaicism of two COL45A mutations associ- ated with adult-onset renal failure, but no ocular abnormali- ties. Her risk of renal failure is high, but the rate of progression to end-stage disease depends on the underlying mutations, and disease modification with renin–angiotensin blockade.
format	Article
author	Mohammad, Mardhiah Nanra, Ranjit Colville, Deb Trevillian, Paul Wang, Yanyan Storey, Helen Flinter, Frances Savige, Judy
author_facet	Mohammad, Mardhiah Nanra, Ranjit Colville, Deb Trevillian, Paul Wang, Yanyan Storey, Helen Flinter, Frances Savige, Judy
author_sort	Mohammad, Mardhiah
title	A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations
title_short	A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations
title_full	A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations
title_fullStr	A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations
title_full_unstemmed	A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations
title_sort	female with x-linked alport syndrome and compound heterozygous col4a5 mutations
publisher	Springer Berlin Heidelberg
publishDate	2014
url	http://irep.iium.edu.my/38537/ http://irep.iium.edu.my/38537/ http://irep.iium.edu.my/38537/ http://irep.iium.edu.my/38537/1/mardhiah_jurnal2.pdf http://irep.iium.edu.my/38537/4/WOS_Q1.pdf
first_indexed	2023-09-18T20:55:22Z
last_indexed	2023-09-18T20:55:22Z
_version_	1777410268665479168

A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations

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