Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation

Abstract Background Kidney transplantation is the treatment of choice in end-stage renal disease due to Alport syndrome (AS). However, the chances of finding an adequate living-related donor in AS are much worse compared to non-heritable conditions. Successful cases of related living-donor transplan...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Friederike Petzold [verfasserIn] Anette Bachmann [verfasserIn] Carsten Bergmann [verfasserIn] Udo Helmchen [verfasserIn] Jan Halbritter [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2019

Schlagwörter:	ESRD Alport syndrome Transplantation TBMN ADAS ARAS

Übergeordnetes Werk:	In: BMC Nephrology - BMC, 2003, 20(2019), 1, Seite 5
Übergeordnetes Werk:	volume:20 ; year:2019 ; number:1 ; pages:5

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1186/s12882-019-1523-7

Katalog-ID:	DOAJ076771709

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520			\|a Abstract Background Kidney transplantation is the treatment of choice in end-stage renal disease due to Alport syndrome (AS). However, the chances of finding an adequate living-related donor in AS are much worse compared to non-heritable conditions. Successful cases of related living-donor transplantation mostly refer to X-linked AS but are rarely reported in genetically confirmed autosomal AS. Case presentation We describe the outcome of an exceptional AB0-incompatible kidney donation from father to son in a family with altered COL4A3. While decision-making was based on extensive clinical donor evaluation prior to transplantation, we analyzed the underlying genetic background in retrospect and associated these findings with the phenotype in all available family members. While biallelic COL4A3 variants caused autosomal recessive AS (ARAS) in the son (recipient), heterozygous family members, including the father (donor), showed minimal renal involvement and high-frequency sensorineural hearing impairment later in life indicating mild autosomal dominant Alport syndrome (ADAS). The recipient’s successful participation in the European and World Transplant Games is a testament to the positive outcome of transplantation. Conclusions In summary, living-related donor transplantation may be successful in autosomal AS, provided that thorough clinical and genetic evaluation of potential donors is performed. However, unrelated kidney transplantation should be given priority upon unpredictable genetic risk. Individual genetic variant interpretation is an important component of personalized donor assessment and will help to better predict genetic risk in the future.
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allfields	10.1186/s12882-019-1523-7 doi (DE-627)DOAJ076771709 (DE-599)DOAJ608823005032486ebb0b8de3ae5bf76c DE-627 ger DE-627 rakwb eng RC870-923 Friederike Petzold verfasserin aut Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Kidney transplantation is the treatment of choice in end-stage renal disease due to Alport syndrome (AS). However, the chances of finding an adequate living-related donor in AS are much worse compared to non-heritable conditions. Successful cases of related living-donor transplantation mostly refer to X-linked AS but are rarely reported in genetically confirmed autosomal AS. Case presentation We describe the outcome of an exceptional AB0-incompatible kidney donation from father to son in a family with altered COL4A3. While decision-making was based on extensive clinical donor evaluation prior to transplantation, we analyzed the underlying genetic background in retrospect and associated these findings with the phenotype in all available family members. While biallelic COL4A3 variants caused autosomal recessive AS (ARAS) in the son (recipient), heterozygous family members, including the father (donor), showed minimal renal involvement and high-frequency sensorineural hearing impairment later in life indicating mild autosomal dominant Alport syndrome (ADAS). The recipient’s successful participation in the European and World Transplant Games is a testament to the positive outcome of transplantation. Conclusions In summary, living-related donor transplantation may be successful in autosomal AS, provided that thorough clinical and genetic evaluation of potential donors is performed. However, unrelated kidney transplantation should be given priority upon unpredictable genetic risk. Individual genetic variant interpretation is an important component of personalized donor assessment and will help to better predict genetic risk in the future. ESRD Alport syndrome Transplantation TBMN ADAS ARAS Diseases of the genitourinary system. Urology Anette Bachmann verfasserin aut Carsten Bergmann verfasserin aut Udo Helmchen verfasserin aut Jan Halbritter verfasserin aut In BMC Nephrology BMC, 2003 20(2019), 1, Seite 5 (DE-627)326643672 (DE-600)2041348-8 14712369 nnns volume:20 year:2019 number:1 pages:5 https://doi.org/10.1186/s12882-019-1523-7 kostenfrei https://doaj.org/article/608823005032486ebb0b8de3ae5bf76c kostenfrei http://link.springer.com/article/10.1186/s12882-019-1523-7 kostenfrei https://doaj.org/toc/1471-2369 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 20 2019 1 5
spelling	10.1186/s12882-019-1523-7 doi (DE-627)DOAJ076771709 (DE-599)DOAJ608823005032486ebb0b8de3ae5bf76c DE-627 ger DE-627 rakwb eng RC870-923 Friederike Petzold verfasserin aut Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Kidney transplantation is the treatment of choice in end-stage renal disease due to Alport syndrome (AS). However, the chances of finding an adequate living-related donor in AS are much worse compared to non-heritable conditions. Successful cases of related living-donor transplantation mostly refer to X-linked AS but are rarely reported in genetically confirmed autosomal AS. Case presentation We describe the outcome of an exceptional AB0-incompatible kidney donation from father to son in a family with altered COL4A3. While decision-making was based on extensive clinical donor evaluation prior to transplantation, we analyzed the underlying genetic background in retrospect and associated these findings with the phenotype in all available family members. While biallelic COL4A3 variants caused autosomal recessive AS (ARAS) in the son (recipient), heterozygous family members, including the father (donor), showed minimal renal involvement and high-frequency sensorineural hearing impairment later in life indicating mild autosomal dominant Alport syndrome (ADAS). The recipient’s successful participation in the European and World Transplant Games is a testament to the positive outcome of transplantation. Conclusions In summary, living-related donor transplantation may be successful in autosomal AS, provided that thorough clinical and genetic evaluation of potential donors is performed. However, unrelated kidney transplantation should be given priority upon unpredictable genetic risk. Individual genetic variant interpretation is an important component of personalized donor assessment and will help to better predict genetic risk in the future. ESRD Alport syndrome Transplantation TBMN ADAS ARAS Diseases of the genitourinary system. Urology Anette Bachmann verfasserin aut Carsten Bergmann verfasserin aut Udo Helmchen verfasserin aut Jan Halbritter verfasserin aut In BMC Nephrology BMC, 2003 20(2019), 1, Seite 5 (DE-627)326643672 (DE-600)2041348-8 14712369 nnns volume:20 year:2019 number:1 pages:5 https://doi.org/10.1186/s12882-019-1523-7 kostenfrei https://doaj.org/article/608823005032486ebb0b8de3ae5bf76c kostenfrei http://link.springer.com/article/10.1186/s12882-019-1523-7 kostenfrei https://doaj.org/toc/1471-2369 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 20 2019 1 5
allfields_unstemmed	10.1186/s12882-019-1523-7 doi (DE-627)DOAJ076771709 (DE-599)DOAJ608823005032486ebb0b8de3ae5bf76c DE-627 ger DE-627 rakwb eng RC870-923 Friederike Petzold verfasserin aut Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Kidney transplantation is the treatment of choice in end-stage renal disease due to Alport syndrome (AS). However, the chances of finding an adequate living-related donor in AS are much worse compared to non-heritable conditions. Successful cases of related living-donor transplantation mostly refer to X-linked AS but are rarely reported in genetically confirmed autosomal AS. Case presentation We describe the outcome of an exceptional AB0-incompatible kidney donation from father to son in a family with altered COL4A3. While decision-making was based on extensive clinical donor evaluation prior to transplantation, we analyzed the underlying genetic background in retrospect and associated these findings with the phenotype in all available family members. While biallelic COL4A3 variants caused autosomal recessive AS (ARAS) in the son (recipient), heterozygous family members, including the father (donor), showed minimal renal involvement and high-frequency sensorineural hearing impairment later in life indicating mild autosomal dominant Alport syndrome (ADAS). The recipient’s successful participation in the European and World Transplant Games is a testament to the positive outcome of transplantation. Conclusions In summary, living-related donor transplantation may be successful in autosomal AS, provided that thorough clinical and genetic evaluation of potential donors is performed. However, unrelated kidney transplantation should be given priority upon unpredictable genetic risk. Individual genetic variant interpretation is an important component of personalized donor assessment and will help to better predict genetic risk in the future. ESRD Alport syndrome Transplantation TBMN ADAS ARAS Diseases of the genitourinary system. Urology Anette Bachmann verfasserin aut Carsten Bergmann verfasserin aut Udo Helmchen verfasserin aut Jan Halbritter verfasserin aut In BMC Nephrology BMC, 2003 20(2019), 1, Seite 5 (DE-627)326643672 (DE-600)2041348-8 14712369 nnns volume:20 year:2019 number:1 pages:5 https://doi.org/10.1186/s12882-019-1523-7 kostenfrei https://doaj.org/article/608823005032486ebb0b8de3ae5bf76c kostenfrei http://link.springer.com/article/10.1186/s12882-019-1523-7 kostenfrei https://doaj.org/toc/1471-2369 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 20 2019 1 5
allfieldsGer	10.1186/s12882-019-1523-7 doi (DE-627)DOAJ076771709 (DE-599)DOAJ608823005032486ebb0b8de3ae5bf76c DE-627 ger DE-627 rakwb eng RC870-923 Friederike Petzold verfasserin aut Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Kidney transplantation is the treatment of choice in end-stage renal disease due to Alport syndrome (AS). However, the chances of finding an adequate living-related donor in AS are much worse compared to non-heritable conditions. Successful cases of related living-donor transplantation mostly refer to X-linked AS but are rarely reported in genetically confirmed autosomal AS. Case presentation We describe the outcome of an exceptional AB0-incompatible kidney donation from father to son in a family with altered COL4A3. While decision-making was based on extensive clinical donor evaluation prior to transplantation, we analyzed the underlying genetic background in retrospect and associated these findings with the phenotype in all available family members. While biallelic COL4A3 variants caused autosomal recessive AS (ARAS) in the son (recipient), heterozygous family members, including the father (donor), showed minimal renal involvement and high-frequency sensorineural hearing impairment later in life indicating mild autosomal dominant Alport syndrome (ADAS). The recipient’s successful participation in the European and World Transplant Games is a testament to the positive outcome of transplantation. Conclusions In summary, living-related donor transplantation may be successful in autosomal AS, provided that thorough clinical and genetic evaluation of potential donors is performed. However, unrelated kidney transplantation should be given priority upon unpredictable genetic risk. Individual genetic variant interpretation is an important component of personalized donor assessment and will help to better predict genetic risk in the future. ESRD Alport syndrome Transplantation TBMN ADAS ARAS Diseases of the genitourinary system. Urology Anette Bachmann verfasserin aut Carsten Bergmann verfasserin aut Udo Helmchen verfasserin aut Jan Halbritter verfasserin aut In BMC Nephrology BMC, 2003 20(2019), 1, Seite 5 (DE-627)326643672 (DE-600)2041348-8 14712369 nnns volume:20 year:2019 number:1 pages:5 https://doi.org/10.1186/s12882-019-1523-7 kostenfrei https://doaj.org/article/608823005032486ebb0b8de3ae5bf76c kostenfrei http://link.springer.com/article/10.1186/s12882-019-1523-7 kostenfrei https://doaj.org/toc/1471-2369 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 20 2019 1 5
allfieldsSound	10.1186/s12882-019-1523-7 doi (DE-627)DOAJ076771709 (DE-599)DOAJ608823005032486ebb0b8de3ae5bf76c DE-627 ger DE-627 rakwb eng RC870-923 Friederike Petzold verfasserin aut Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Kidney transplantation is the treatment of choice in end-stage renal disease due to Alport syndrome (AS). However, the chances of finding an adequate living-related donor in AS are much worse compared to non-heritable conditions. Successful cases of related living-donor transplantation mostly refer to X-linked AS but are rarely reported in genetically confirmed autosomal AS. Case presentation We describe the outcome of an exceptional AB0-incompatible kidney donation from father to son in a family with altered COL4A3. While decision-making was based on extensive clinical donor evaluation prior to transplantation, we analyzed the underlying genetic background in retrospect and associated these findings with the phenotype in all available family members. While biallelic COL4A3 variants caused autosomal recessive AS (ARAS) in the son (recipient), heterozygous family members, including the father (donor), showed minimal renal involvement and high-frequency sensorineural hearing impairment later in life indicating mild autosomal dominant Alport syndrome (ADAS). The recipient’s successful participation in the European and World Transplant Games is a testament to the positive outcome of transplantation. Conclusions In summary, living-related donor transplantation may be successful in autosomal AS, provided that thorough clinical and genetic evaluation of potential donors is performed. However, unrelated kidney transplantation should be given priority upon unpredictable genetic risk. Individual genetic variant interpretation is an important component of personalized donor assessment and will help to better predict genetic risk in the future. ESRD Alport syndrome Transplantation TBMN ADAS ARAS Diseases of the genitourinary system. Urology Anette Bachmann verfasserin aut Carsten Bergmann verfasserin aut Udo Helmchen verfasserin aut Jan Halbritter verfasserin aut In BMC Nephrology BMC, 2003 20(2019), 1, Seite 5 (DE-627)326643672 (DE-600)2041348-8 14712369 nnns volume:20 year:2019 number:1 pages:5 https://doi.org/10.1186/s12882-019-1523-7 kostenfrei https://doaj.org/article/608823005032486ebb0b8de3ae5bf76c kostenfrei http://link.springer.com/article/10.1186/s12882-019-1523-7 kostenfrei https://doaj.org/toc/1471-2369 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 20 2019 1 5
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However, the chances of finding an adequate living-related donor in AS are much worse compared to non-heritable conditions. Successful cases of related living-donor transplantation mostly refer to X-linked AS but are rarely reported in genetically confirmed autosomal AS. Case presentation We describe the outcome of an exceptional AB0-incompatible kidney donation from father to son in a family with altered COL4A3. While decision-making was based on extensive clinical donor evaluation prior to transplantation, we analyzed the underlying genetic background in retrospect and associated these findings with the phenotype in all available family members. While biallelic COL4A3 variants caused autosomal recessive AS (ARAS) in the son (recipient), heterozygous family members, including the father (donor), showed minimal renal involvement and high-frequency sensorineural hearing impairment later in life indicating mild autosomal dominant Alport syndrome (ADAS). The recipient’s successful participation in the European and World Transplant Games is a testament to the positive outcome of transplantation. Conclusions In summary, living-related donor transplantation may be successful in autosomal AS, provided that thorough clinical and genetic evaluation of potential donors is performed. However, unrelated kidney transplantation should be given priority upon unpredictable genetic risk. Individual genetic variant interpretation is an important component of personalized donor assessment and will help to better predict genetic risk in the future.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">ESRD</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Alport syndrome</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Transplantation</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">TBMN</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">ADAS</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">ARAS</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Diseases of the genitourinary system. 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callnumber-first	R - Medicine
author	Friederike Petzold
spellingShingle	Friederike Petzold misc RC870-923 misc ESRD misc Alport syndrome misc Transplantation misc TBMN misc ADAS misc ARAS misc Diseases of the genitourinary system. Urology Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation
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topic_title	RC870-923 Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation ESRD Alport syndrome Transplantation TBMN ADAS ARAS
topic	misc RC870-923 misc ESRD misc Alport syndrome misc Transplantation misc TBMN misc ADAS misc ARAS misc Diseases of the genitourinary system. Urology
topic_unstemmed	misc RC870-923 misc ESRD misc Alport syndrome misc Transplantation misc TBMN misc ADAS misc ARAS misc Diseases of the genitourinary system. Urology
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title	Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation
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title_full	Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation
author_sort	Friederike Petzold
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author_browse	Friederike Petzold Anette Bachmann Carsten Bergmann Udo Helmchen Jan Halbritter
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title_sort	retrospective genetic analysis illustrates the spectrum of autosomal alport syndrome in a case of living-related donor kidney transplantation
callnumber	RC870-923
title_auth	Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation
abstract	Abstract Background Kidney transplantation is the treatment of choice in end-stage renal disease due to Alport syndrome (AS). However, the chances of finding an adequate living-related donor in AS are much worse compared to non-heritable conditions. Successful cases of related living-donor transplantation mostly refer to X-linked AS but are rarely reported in genetically confirmed autosomal AS. Case presentation We describe the outcome of an exceptional AB0-incompatible kidney donation from father to son in a family with altered COL4A3. While decision-making was based on extensive clinical donor evaluation prior to transplantation, we analyzed the underlying genetic background in retrospect and associated these findings with the phenotype in all available family members. While biallelic COL4A3 variants caused autosomal recessive AS (ARAS) in the son (recipient), heterozygous family members, including the father (donor), showed minimal renal involvement and high-frequency sensorineural hearing impairment later in life indicating mild autosomal dominant Alport syndrome (ADAS). The recipient’s successful participation in the European and World Transplant Games is a testament to the positive outcome of transplantation. Conclusions In summary, living-related donor transplantation may be successful in autosomal AS, provided that thorough clinical and genetic evaluation of potential donors is performed. However, unrelated kidney transplantation should be given priority upon unpredictable genetic risk. Individual genetic variant interpretation is an important component of personalized donor assessment and will help to better predict genetic risk in the future.
abstractGer	Abstract Background Kidney transplantation is the treatment of choice in end-stage renal disease due to Alport syndrome (AS). However, the chances of finding an adequate living-related donor in AS are much worse compared to non-heritable conditions. Successful cases of related living-donor transplantation mostly refer to X-linked AS but are rarely reported in genetically confirmed autosomal AS. Case presentation We describe the outcome of an exceptional AB0-incompatible kidney donation from father to son in a family with altered COL4A3. While decision-making was based on extensive clinical donor evaluation prior to transplantation, we analyzed the underlying genetic background in retrospect and associated these findings with the phenotype in all available family members. While biallelic COL4A3 variants caused autosomal recessive AS (ARAS) in the son (recipient), heterozygous family members, including the father (donor), showed minimal renal involvement and high-frequency sensorineural hearing impairment later in life indicating mild autosomal dominant Alport syndrome (ADAS). The recipient’s successful participation in the European and World Transplant Games is a testament to the positive outcome of transplantation. Conclusions In summary, living-related donor transplantation may be successful in autosomal AS, provided that thorough clinical and genetic evaluation of potential donors is performed. However, unrelated kidney transplantation should be given priority upon unpredictable genetic risk. Individual genetic variant interpretation is an important component of personalized donor assessment and will help to better predict genetic risk in the future.
abstract_unstemmed	Abstract Background Kidney transplantation is the treatment of choice in end-stage renal disease due to Alport syndrome (AS). However, the chances of finding an adequate living-related donor in AS are much worse compared to non-heritable conditions. Successful cases of related living-donor transplantation mostly refer to X-linked AS but are rarely reported in genetically confirmed autosomal AS. Case presentation We describe the outcome of an exceptional AB0-incompatible kidney donation from father to son in a family with altered COL4A3. While decision-making was based on extensive clinical donor evaluation prior to transplantation, we analyzed the underlying genetic background in retrospect and associated these findings with the phenotype in all available family members. While biallelic COL4A3 variants caused autosomal recessive AS (ARAS) in the son (recipient), heterozygous family members, including the father (donor), showed minimal renal involvement and high-frequency sensorineural hearing impairment later in life indicating mild autosomal dominant Alport syndrome (ADAS). The recipient’s successful participation in the European and World Transplant Games is a testament to the positive outcome of transplantation. Conclusions In summary, living-related donor transplantation may be successful in autosomal AS, provided that thorough clinical and genetic evaluation of potential donors is performed. However, unrelated kidney transplantation should be given priority upon unpredictable genetic risk. Individual genetic variant interpretation is an important component of personalized donor assessment and will help to better predict genetic risk in the future.
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title_short	Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation
url	https://doi.org/10.1186/s12882-019-1523-7 https://doaj.org/article/608823005032486ebb0b8de3ae5bf76c http://link.springer.com/article/10.1186/s12882-019-1523-7 https://doaj.org/toc/1471-2369
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author2	Anette Bachmann Carsten Bergmann Udo Helmchen Jan Halbritter
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up_date	2024-07-03T22:19:36.727Z
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However, the chances of finding an adequate living-related donor in AS are much worse compared to non-heritable conditions. Successful cases of related living-donor transplantation mostly refer to X-linked AS but are rarely reported in genetically confirmed autosomal AS. Case presentation We describe the outcome of an exceptional AB0-incompatible kidney donation from father to son in a family with altered COL4A3. While decision-making was based on extensive clinical donor evaluation prior to transplantation, we analyzed the underlying genetic background in retrospect and associated these findings with the phenotype in all available family members. While biallelic COL4A3 variants caused autosomal recessive AS (ARAS) in the son (recipient), heterozygous family members, including the father (donor), showed minimal renal involvement and high-frequency sensorineural hearing impairment later in life indicating mild autosomal dominant Alport syndrome (ADAS). The recipient’s successful participation in the European and World Transplant Games is a testament to the positive outcome of transplantation. Conclusions In summary, living-related donor transplantation may be successful in autosomal AS, provided that thorough clinical and genetic evaluation of potential donors is performed. However, unrelated kidney transplantation should be given priority upon unpredictable genetic risk. 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Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation

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