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 single...
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| Veröffentlicht in: | Pediatric nephrology (Berlin, West) West), 2014-03, Vol.29 (3), p.391-396 |
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| creator | Wang, Yanyan Sivakumar, Vanessa Mohammad, Mardhiah Colville, Deb Storey, Helen Flinter, Frances Dagher, Hayat Savige, Judy |
| 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 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
|
| doi_str_mv | 10.1007/s00467-013-2643-0 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_proqu</sourceid><recordid>TN_cdi_proquest_miscellaneous_1639988381</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A370755527</galeid><sourcerecordid>A370755527</sourcerecordid><originalsourceid>FETCH-LOGICAL-c650t-252ac0ec7769c7a62a34548aa575790124fb34a461f9a6fca9e0a7511447026d3</originalsourceid><addsrcrecordid>eNqF0l2L1DAUBuAgijuu_gBvpCCIN13z_XE5DH7BgggKcxey6els1jYZk3Zh_72ps-qujEgvAs3zntLDi9Bzgs8IxupNwZhL1WLCWio5a_EDtCKc0ZYYvX2IVtgw0mJOtifoSSlXGGMttHyMTignSmvDVujzZggxeDc0LnbNDiJMwTc9uGnOUJoQGzdPqaSxigweSgnX8NNu25r8Bl2zHvYpT025iV1OIzxFj3o3FHh2e56ir-_eftl8aM8_vf-4WZ-3Xgo8tVRQ5zF4paTxyknqGBdcOyeUUAYTyvsLxh2XpDdO9t4ZwE4JQjhXmMqOnaLXh7n7nL7PUCY7huJhGFyENBdLJDNGa6bJ_yk3pn6QS13py7_oVZpzrD-yKE4VEUL-UTs3gA2xT1N2fhlq10xhJYSgqqr2iFp2nN2QIvShvr7nz474-nQwBn808OpO4BLcMF2WNMxTSLHch-QAfU6lZOjtPofR5RtLsF2qZA9VsrVKdqmSxTXz4nYT88UI3e_Er-5UQA-g1Ku4g3xnVf-c-gPyC87Q</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1494271556</pqid></control><display><type>article</type><title>Clinical and genetic features in autosomal recessive and X-linked Alport syndrome</title><source>MEDLINE</source><source>SpringerLink Journals - AutoHoldings</source><creator>Wang, Yanyan ; Sivakumar, Vanessa ; Mohammad, Mardhiah ; Colville, Deb ; Storey, Helen ; Flinter, Frances ; Dagher, Hayat ; Savige, Judy</creator><creatorcontrib>Wang, Yanyan ; Sivakumar, Vanessa ; Mohammad, Mardhiah ; Colville, Deb ; Storey, Helen ; Flinter, Frances ; Dagher, Hayat ; Savige, Judy</creatorcontrib><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 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.</description><identifier>ISSN: 0931-041X</identifier><identifier>EISSN: 1432-198X</identifier><identifier>DOI: 10.1007/s00467-013-2643-0</identifier><identifier>PMID: 24178893</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Adolescent ; Adult ; Alport's syndrome ; Complications and side effects ; Development and progression ; DNA Mutational Analysis ; Families & family life ; Family medical history ; Female ; Females ; Genes, X-Linked ; Genetic aspects ; Genetic Predisposition to Disease ; Genetic testing ; Genetic Testing - methods ; Hearing loss ; Hearing Loss - genetics ; Hematuria ; Heredity ; Humans ; Kidney diseases ; Kidney Failure, Chronic - genetics ; Male ; Males ; Medicine ; Medicine & Public Health ; Middle Aged ; Mutation ; Nephritis, Hereditary - complications ; Nephritis, Hereditary - diagnosis ; Nephritis, Hereditary - genetics ; Nephrology ; Original Article ; Patient outcomes ; Pediatrics ; Pedigree ; Phenotype ; Predictive Value of Tests ; Prognosis ; Retinal Diseases - genetics ; Retrolental fibroplasia ; Risk Factors ; Sex Factors ; Time Factors ; Urology ; Young Adult</subject><ispartof>Pediatric nephrology (Berlin, West), 2014-03, Vol.29 (3), p.391-396</ispartof><rights>IPNA 2013</rights><rights>COPYRIGHT 2014 Springer</rights><rights>IPNA 2014</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c650t-252ac0ec7769c7a62a34548aa575790124fb34a461f9a6fca9e0a7511447026d3</citedby><cites>FETCH-LOGICAL-c650t-252ac0ec7769c7a62a34548aa575790124fb34a461f9a6fca9e0a7511447026d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00467-013-2643-0$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00467-013-2643-0$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,777,781,27905,27906,41469,42538,51300</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24178893$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wang, Yanyan</creatorcontrib><creatorcontrib>Sivakumar, Vanessa</creatorcontrib><creatorcontrib>Mohammad, Mardhiah</creatorcontrib><creatorcontrib>Colville, Deb</creatorcontrib><creatorcontrib>Storey, Helen</creatorcontrib><creatorcontrib>Flinter, Frances</creatorcontrib><creatorcontrib>Dagher, Hayat</creatorcontrib><creatorcontrib>Savige, Judy</creatorcontrib><title>Clinical and genetic features in autosomal recessive and X-linked Alport syndrome</title><title>Pediatric nephrology (Berlin, West)</title><addtitle>Pediatr Nephrol</addtitle><addtitle>Pediatr Nephrol</addtitle><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 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.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Alport's syndrome</subject><subject>Complications and side effects</subject><subject>Development and progression</subject><subject>DNA Mutational Analysis</subject><subject>Families & family life</subject><subject>Family medical history</subject><subject>Female</subject><subject>Females</subject><subject>Genes, X-Linked</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic testing</subject><subject>Genetic Testing - methods</subject><subject>Hearing loss</subject><subject>Hearing Loss - genetics</subject><subject>Hematuria</subject><subject>Heredity</subject><subject>Humans</subject><subject>Kidney diseases</subject><subject>Kidney Failure, Chronic - genetics</subject><subject>Male</subject><subject>Males</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Nephritis, Hereditary - complications</subject><subject>Nephritis, Hereditary - diagnosis</subject><subject>Nephritis, Hereditary - genetics</subject><subject>Nephrology</subject><subject>Original Article</subject><subject>Patient outcomes</subject><subject>Pediatrics</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Predictive Value of Tests</subject><subject>Prognosis</subject><subject>Retinal Diseases - genetics</subject><subject>Retrolental fibroplasia</subject><subject>Risk Factors</subject><subject>Sex Factors</subject><subject>Time Factors</subject><subject>Urology</subject><subject>Young Adult</subject><issn>0931-041X</issn><issn>1432-198X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqF0l2L1DAUBuAgijuu_gBvpCCIN13z_XE5DH7BgggKcxey6els1jYZk3Zh_72ps-qujEgvAs3zntLDi9Bzgs8IxupNwZhL1WLCWio5a_EDtCKc0ZYYvX2IVtgw0mJOtifoSSlXGGMttHyMTignSmvDVujzZggxeDc0LnbNDiJMwTc9uGnOUJoQGzdPqaSxigweSgnX8NNu25r8Bl2zHvYpT025iV1OIzxFj3o3FHh2e56ir-_eftl8aM8_vf-4WZ-3Xgo8tVRQ5zF4paTxyknqGBdcOyeUUAYTyvsLxh2XpDdO9t4ZwE4JQjhXmMqOnaLXh7n7nL7PUCY7huJhGFyENBdLJDNGa6bJ_yk3pn6QS13py7_oVZpzrD-yKE4VEUL-UTs3gA2xT1N2fhlq10xhJYSgqqr2iFp2nN2QIvShvr7nz474-nQwBn808OpO4BLcMF2WNMxTSLHch-QAfU6lZOjtPofR5RtLsF2qZA9VsrVKdqmSxTXz4nYT88UI3e_Er-5UQA-g1Ku4g3xnVf-c-gPyC87Q</recordid><startdate>20140301</startdate><enddate>20140301</enddate><creator>Wang, Yanyan</creator><creator>Sivakumar, Vanessa</creator><creator>Mohammad, Mardhiah</creator><creator>Colville, Deb</creator><creator>Storey, Helen</creator><creator>Flinter, Frances</creator><creator>Dagher, Hayat</creator><creator>Savige, Judy</creator><general>Springer Berlin Heidelberg</general><general>Springer</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QP</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9-</scope><scope>K9.</scope><scope>KB0</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20140301</creationdate><title>Clinical and genetic features in autosomal recessive and X-linked Alport syndrome</title><author>Wang, Yanyan ; Sivakumar, Vanessa ; Mohammad, Mardhiah ; Colville, Deb ; Storey, Helen ; Flinter, Frances ; Dagher, Hayat ; Savige, Judy</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c650t-252ac0ec7769c7a62a34548aa575790124fb34a461f9a6fca9e0a7511447026d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Alport's syndrome</topic><topic>Complications and side effects</topic><topic>Development and progression</topic><topic>DNA Mutational Analysis</topic><topic>Families & family life</topic><topic>Family medical history</topic><topic>Female</topic><topic>Females</topic><topic>Genes, X-Linked</topic><topic>Genetic aspects</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic testing</topic><topic>Genetic Testing - methods</topic><topic>Hearing loss</topic><topic>Hearing Loss - genetics</topic><topic>Hematuria</topic><topic>Heredity</topic><topic>Humans</topic><topic>Kidney diseases</topic><topic>Kidney Failure, Chronic - genetics</topic><topic>Male</topic><topic>Males</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Nephritis, Hereditary - complications</topic><topic>Nephritis, Hereditary - diagnosis</topic><topic>Nephritis, Hereditary - genetics</topic><topic>Nephrology</topic><topic>Original Article</topic><topic>Patient outcomes</topic><topic>Pediatrics</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Predictive Value of Tests</topic><topic>Prognosis</topic><topic>Retinal Diseases - genetics</topic><topic>Retrolental fibroplasia</topic><topic>Risk Factors</topic><topic>Sex Factors</topic><topic>Time Factors</topic><topic>Urology</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wang, Yanyan</creatorcontrib><creatorcontrib>Sivakumar, Vanessa</creatorcontrib><creatorcontrib>Mohammad, Mardhiah</creatorcontrib><creatorcontrib>Colville, Deb</creatorcontrib><creatorcontrib>Storey, Helen</creatorcontrib><creatorcontrib>Flinter, Frances</creatorcontrib><creatorcontrib>Dagher, Hayat</creatorcontrib><creatorcontrib>Savige, Judy</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Pediatric nephrology (Berlin, West)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wang, Yanyan</au><au>Sivakumar, Vanessa</au><au>Mohammad, Mardhiah</au><au>Colville, Deb</au><au>Storey, Helen</au><au>Flinter, Frances</au><au>Dagher, Hayat</au><au>Savige, Judy</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical and genetic features in autosomal recessive and X-linked Alport syndrome</atitle><jtitle>Pediatric nephrology (Berlin, West)</jtitle><stitle>Pediatr Nephrol</stitle><addtitle>Pediatr Nephrol</addtitle><date>2014-03-01</date><risdate>2014</risdate><volume>29</volume><issue>3</issue><spage>391</spage><epage>396</epage><pages>391-396</pages><issn>0931-041X</issn><eissn>1432-198X</eissn><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.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>24178893</pmid><doi>10.1007/s00467-013-2643-0</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0931-041X |
| ispartof | Pediatric nephrology (Berlin, West), 2014-03, Vol.29 (3), p.391-396 |
| issn | 0931-041X 1432-198X |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1639988381 |
| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Adolescent Adult Alport's syndrome Complications and side effects Development and progression DNA Mutational Analysis Families & family life Family medical history Female Females Genes, X-Linked Genetic aspects Genetic Predisposition to Disease Genetic testing Genetic Testing - methods Hearing loss Hearing Loss - genetics Hematuria Heredity Humans Kidney diseases Kidney Failure, Chronic - genetics Male Males Medicine Medicine & Public Health Middle Aged Mutation Nephritis, Hereditary - complications Nephritis, Hereditary - diagnosis Nephritis, Hereditary - genetics Nephrology Original Article Patient outcomes Pediatrics Pedigree Phenotype Predictive Value of Tests Prognosis Retinal Diseases - genetics Retrolental fibroplasia Risk Factors Sex Factors Time Factors Urology Young Adult |
| title | Clinical and genetic features in autosomal recessive and X-linked Alport syndrome |
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