一名处于复合杂合状态的妊娠期奥尔波特综合征女性：给临床肾病学家的经验教训。 - Suppr

A woman with Alport syndrome in compound-heterozygous state in pregnancy: lessons for the clinical nephrologist.

作者信息

Song Zhuo-Ran, Li Yang, Zhang Yanqin, Zhou Xu-Jie, Zhang Hong

机构信息

Renal Division, Peking University First Hospital, Kidney Genetic Center, Peking University Institute of Nephrology, No. 8 Xi Shi Ku Street, Xi Cheng District, Beijing, 100034, People's Republic of China.

Kidney Genetics Center, Peking University Institute of Nephrology, Beijing, 100034, People's Republic of China.

出版信息

J Nephrol. 2022 Dec;35(9):2391-2394. doi: 10.1007/s40620-022-01318-9. Epub 2022 Apr 30.

DOI:10.1007/s40620-022-01318-9

PMID:35488972

Abstract

摘要

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A woman with Alport syndrome in compound-heterozygous state in pregnancy: lessons for the clinical nephrologist.

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Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations.

Kidney Int. 2012 Apr;81(8):779-83. doi: 10.1038/ki.2011.452. Epub 2012 Jan 11.

Two-in-one: single coronary ostium and mitral valve prolapsus in a young female with Alport syndrome.

Anadolu Kardiyol Derg. 2012 May;12(3):281. doi: 10.5152/akd.2012.080. Epub 2012 Mar 13.

Autosomal Recessive Alport Syndrome Unveiled by Pregnancy.

Nephron. 2019;143(4):288-292. doi: 10.1159/000502147. Epub 2019 Aug 13.

Lessons Learned from HERA: the First Alport Syndrome Therapeutic Clinical Trial.

Clin J Am Soc Nephrol. 2024 Aug 1;19(8):946-948. doi: 10.2215/CJN.0000000000000506. Epub 2024 Jun 21.

Crescentic and necrotising glomerulonephritis: a rare histological manifestation of Alport syndrome.

J Clin Pathol. 2015 Jul;68(7):581-3. doi: 10.1136/jclinpath-2015-202953. Epub 2015 Apr 13.

CyclosporinA Derivative as Therapeutic Candidate for Alport Syndrome by Inducing Mutant Type IV Collagen Secretion.

Kidney360. 2023 Jul 1;4(7):909-917. doi: 10.34067/KID.0000000000000134. Epub 2023 May 5.

引用本文的文献

A retrospective study of kidney disease in Alport syndrome during and after pregnancy.

J Nephrol. 2025 Apr;38(3):1085-1092. doi: 10.1007/s40620-025-02252-2. Epub 2025 May 20.

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mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing.

Sci Rep. 2021 Sep 10;11(1):18097. doi: 10.1038/s41598-021-97414-0.

Prevalence Estimates of Predicted Pathogenic Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.

J Am Soc Nephrol. 2021 Sep;32(9):2273-2290. doi: 10.1681/ASN.2020071065. Epub 2021 Jun 18.

Alport syndrome and pregnancy: a case series and literature review.

Arch Gynecol Obstet. 2018 Jun;297(6):1421-1431. doi: 10.1007/s00404-018-4720-x. Epub 2018 Feb 28.

Two Pregnancies with a Different Outcome in a Patient with Alport Syndrome.

Open Access Maced J Med Sci. 2016 Sep 15;4(3):439-442. doi: 10.3889/oamjms.2016.073. Epub 2016 Jul 2.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

Pregnancy in Alport syndrome: a report of two differently-evolving cases.

J Obstet Gynaecol. 2014 Jan;34(1):98-100. doi: 10.3109/01443615.2013.834299.

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.

J Am Soc Nephrol. 2003 Oct;14(10):2603-10. doi: 10.1097/01.asn.0000090034.71205.74.

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

Kidney Int. 2002 Jun;61(6):1947-56. doi: 10.1046/j.1523-1755.2002.00379.x.

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A woman with Alport syndrome in compound-heterozygous state in pregnancy: lessons for the clinical nephrologist.

作者信息

Song Zhuo-Ran, Li Yang, Zhang Yanqin, Zhou Xu-Jie, Zhang Hong

机构信息

Kidney Genetics Center, Peking University Institute of Nephrology, Beijing, 100034, People's Republic of China.

出版信息

J Nephrol. 2022 Dec;35(9):2391-2394. doi: 10.1007/s40620-022-01318-9. Epub 2022 Apr 30.

DOI:10.1007/s40620-022-01318-9

PMID:35488972

Abstract

摘要

相似文献

A woman with Alport syndrome in compound-heterozygous state in pregnancy: lessons for the clinical nephrologist.

J Nephrol. 2022 Dec;35(9):2391-2394. doi: 10.1007/s40620-022-01318-9. Epub 2022 Apr 30.

What the Adult Nephrologist Should Know About Alport Syndrome.

Adv Chronic Kidney Dis. 2022 May;29(3):225-230. doi: 10.1053/j.ackd.2021.08.003.

Genetic testing and glomerular hematuria-A nephrologist's perspective.

Am J Med Genet C Semin Med Genet. 2022 Sep;190(3):399-403. doi: 10.1002/ajmg.c.31987. Epub 2022 Jul 1.

Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports.

Medicine (Baltimore). 2023 Nov 17;102(46):e36057. doi: 10.1097/MD.0000000000036057.

Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations.

Kidney Int. 2012 Apr;81(8):779-83. doi: 10.1038/ki.2011.452. Epub 2012 Jan 11.

Two-in-one: single coronary ostium and mitral valve prolapsus in a young female with Alport syndrome.

Anadolu Kardiyol Derg. 2012 May;12(3):281. doi: 10.5152/akd.2012.080. Epub 2012 Mar 13.

Autosomal Recessive Alport Syndrome Unveiled by Pregnancy.

Nephron. 2019;143(4):288-292. doi: 10.1159/000502147. Epub 2019 Aug 13.

Lessons Learned from HERA: the First Alport Syndrome Therapeutic Clinical Trial.

Clin J Am Soc Nephrol. 2024 Aug 1;19(8):946-948. doi: 10.2215/CJN.0000000000000506. Epub 2024 Jun 21.

Crescentic and necrotising glomerulonephritis: a rare histological manifestation of Alport syndrome.

J Clin Pathol. 2015 Jul;68(7):581-3. doi: 10.1136/jclinpath-2015-202953. Epub 2015 Apr 13.

CyclosporinA Derivative as Therapeutic Candidate for Alport Syndrome by Inducing Mutant Type IV Collagen Secretion.

Kidney360. 2023 Jul 1;4(7):909-917. doi: 10.34067/KID.0000000000000134. Epub 2023 May 5.

引用本文的文献

A retrospective study of kidney disease in Alport syndrome during and after pregnancy.

J Nephrol. 2025 Apr;38(3):1085-1092. doi: 10.1007/s40620-025-02252-2. Epub 2025 May 20.

本文引用的文献

mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing.

Sci Rep. 2021 Sep 10;11(1):18097. doi: 10.1038/s41598-021-97414-0.

Prevalence Estimates of Predicted Pathogenic Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.

J Am Soc Nephrol. 2021 Sep;32(9):2273-2290. doi: 10.1681/ASN.2020071065. Epub 2021 Jun 18.

Alport syndrome and pregnancy: a case series and literature review.

Arch Gynecol Obstet. 2018 Jun;297(6):1421-1431. doi: 10.1007/s00404-018-4720-x. Epub 2018 Feb 28.

Two Pregnancies with a Different Outcome in a Patient with Alport Syndrome.

Open Access Maced J Med Sci. 2016 Sep 15;4(3):439-442. doi: 10.3889/oamjms.2016.073. Epub 2016 Jul 2.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

Pregnancy in Alport syndrome: a report of two differently-evolving cases.

J Obstet Gynaecol. 2014 Jan;34(1):98-100. doi: 10.3109/01443615.2013.834299.

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.

J Am Soc Nephrol. 2003 Oct;14(10):2603-10. doi: 10.1097/01.asn.0000090034.71205.74.

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

Kidney Int. 2002 Jun;61(6):1947-56. doi: 10.1046/j.1523-1755.2002.00379.x.

A woman with Alport syndrome in compound-heterozygous state in pregnancy: lessons for the clinical nephrologist.

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A woman with Alport syndrome in compound-heterozygous state in pregnancy: lessons for the clinical nephrologist.

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