{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T17:12:04Z","timestamp":1772125924671,"version":"3.50.1"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,9,2]],"date-time":"2019-09-02T00:00:00Z","timestamp":1567382400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,9,2]],"date-time":"2019-09-02T00:00:00Z","timestamp":1567382400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Nephrol"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1186\/s12882-019-1523-7","type":"journal-article","created":{"date-parts":[[2019,9,2]],"date-time":"2019-09-02T18:09:38Z","timestamp":1567447778000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation"],"prefix":"10.1186","volume":"20","author":[{"given":"Friederike","family":"Petzold","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anette","family":"Bachmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carsten","family":"Bergmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Udo","family":"Helmchen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Halbritter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,9,2]]},"reference":[{"issue":"2","key":"1523_CR1","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1007\/s10157-018-1629-4","volume":"23","author":"Kandai Nozu","year":"2018","unstructured":"Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, et al. A review of clinical characteristics and genetic backgrounds in Alport syndrome. Clin Exp Nephrol. 2018. https:\/\/doi.org\/10.1007\/s10157-018-1629-4 .","journal-title":"Clinical and Experimental Nephrology"},{"key":"1523_CR2","doi-asserted-by":"publisher","first-page":"267","DOI":"10.2147\/IJNRD.S150539","volume":"11","author":"CE Kashtan","year":"2018","unstructured":"Kashtan CE. Renal transplantation in patients with Alport syndrome: patient selection, outcomes, and donor evaluation. Int J Nephrol Renov Dis. 2018;11:267\u201370. https:\/\/doi.org\/10.2147\/IJNRD.S150539 .","journal-title":"Int J Nephrol Renov Dis"},{"key":"1523_CR3","doi-asserted-by":"publisher","first-page":"1969","DOI":"10.2215\/CJN.02190312","volume":"7","author":"J Temme","year":"2012","unstructured":"Temme J, Kramer A, Jager KJ, Lange K, Peters F, M\u00fcller G-A, et al. Outcomes of male patients with Alport syndrome undergoing renal replacement therapy. Clin J Am Soc Nephrol. 2012;7:1969\u201376. https:\/\/doi.org\/10.2215\/CJN.02190312 .","journal-title":"Clin J Am Soc Nephrol"},{"key":"1523_CR4","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1186\/s12882-018-1052-9","volume":"19","author":"A Katsuma","year":"2018","unstructured":"Katsuma A, Nakada Y, Yamamoto I, Horita S, Furusawa M, Unagami K, et al. Long-term survival in Japanese renal transplant recipients with Alport syndrome: a retrospective study. BMC Nephrol. 2018;19:249. https:\/\/doi.org\/10.1186\/s12882-018-1052-9 .","journal-title":"BMC Nephrol"},{"key":"1523_CR5","doi-asserted-by":"publisher","first-page":"736","DOI":"10.1038\/nrneph.2010.122","volume":"6","author":"P Niaudet","year":"2010","unstructured":"Niaudet P. Living donor kidney transplantation in patients with hereditary nephropathies. Nat Rev Nephrol. 2010;6:736\u201343. https:\/\/doi.org\/10.1038\/nrneph.2010.122 .","journal-title":"Nat Rev Nephrol"},{"key":"1523_CR6","doi-asserted-by":"crossref","first-page":"2603","DOI":"10.1097\/01.ASN.0000090034.71205.74","volume":"14","author":"JP Jais","year":"2003","unstructured":"Jais JP, Knebelmann B, Giatras I, de MM, Rizzoni G, Renieri A, et al. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a \u201cEuropean Community Alport syndrome concerted action\u201d study. J Am Soc Nephrol. 2003;14:2603\u201310.","journal-title":"J Am Soc Nephrol"},{"key":"1523_CR7","doi-asserted-by":"publisher","first-page":"1045","DOI":"10.1016\/j.kint.2017.12.018","volume":"93","author":"CE Kashtan","year":"2018","unstructured":"Kashtan CE, Ding J, Garosi G, Heidet L, Massella L, Nakanishi K, et al. Alport syndrome: a unified classification of genetic disorders of collagen IV \u03b1345: a position paper of the Alport syndrome classification working group. Kidney Int. 2018;93:1045\u201351. https:\/\/doi.org\/10.1016\/j.kint.2017.12.018 .","journal-title":"Kidney Int"},{"issue":"Suppl 10","key":"1523_CR8","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1034\/j.1399-0012.17.s10.5.x","volume":"17","author":"K Sakai","year":"2003","unstructured":"Sakai K, Muramatsu M, Ogiwara H, Kawamura T, Arai K, Aikawa A, et al. Living related kidney transplantation in a patient with autosomal-recessive Alport syndrome. Clin Transpl. 2003;17(Suppl 10):4\u20138.","journal-title":"Clin Transpl"},{"key":"1523_CR9","doi-asserted-by":"publisher","first-page":"1626","DOI":"10.1093\/ndt\/gfn635","volume":"24","author":"O Gross","year":"2009","unstructured":"Gross O, Weber M, Fries JWU, M\u00fcller G-A. Living donor kidney transplantation from relatives with mild urinary abnormalities in Alport syndrome: long-term risk, benefit and outcome. Nephrol Dial Transplant. 2009;24:1626\u201330. https:\/\/doi.org\/10.1093\/ndt\/gfn635 .","journal-title":"Nephrol Dial Transplant"},{"key":"1523_CR10","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. 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;17:405\u201324. https:\/\/doi.org\/10.1038\/gim.2015.30 .","journal-title":"Genet Med"},{"key":"1523_CR11","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0076360","volume":"8","author":"R Chatterjee","year":"2013","unstructured":"Chatterjee R, Hoffman M, Cliften P, Seshan S, Liapis H, Jain S. Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria. PLoS One. 2013;8:e76360. https:\/\/doi.org\/10.1371\/journal.pone.0076360 .","journal-title":"PLoS One"},{"key":"1523_CR12","doi-asserted-by":"publisher","first-page":"1239","DOI":"10.1016\/j.ekir.2018.08.002","volume":"3","author":"J Savige","year":"2018","unstructured":"Savige J. Should we diagnose autosomal dominant Alport syndrome when there is a pathogenic heterozygous COL4A3 or COL4A4 variant? Kidney Int Rep. 2018;3:1239\u201341. https:\/\/doi.org\/10.1016\/j.ekir.2018.08.002 .","journal-title":"Kidney Int Rep"},{"issue":"7","key":"1523_CR13","doi-asserted-by":"publisher","first-page":"1175","DOI":"10.1007\/s00467-018-3985-4","volume":"34","author":"Judy Savige","year":"2018","unstructured":"Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, et al. Expert consensus guidelines for the genetic diagnosis of Alport syndrome. Pediatr Nephrol. 2018. https:\/\/doi.org\/10.1007\/s00467-018-3985-4 .","journal-title":"Pediatric Nephrology"},{"key":"1523_CR14","doi-asserted-by":"publisher","first-page":"31142","DOI":"10.1074\/jbc.M201740200","volume":"277","author":"M Sundaramoorthy","year":"2002","unstructured":"Sundaramoorthy M, Meiyappan M, Todd P, Hudson BG. Crystal structure of NC1 domains. Structural basis for type IV collagen assembly in basement membranes. J Biol Chem. 2002;277:31142\u201353. https:\/\/doi.org\/10.1074\/jbc.M201740200 .","journal-title":"J Biol Chem"},{"key":"1523_CR15","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1681\/ASN.V12197","volume":"12","author":"L Heidet","year":"2001","unstructured":"Heidet L, Arrondel C, Forestier L, Cohen-Solal L, Mollet G, Gutierrez B, et al. Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. J Am Soc Nephrol. 2001;12:97\u2013106.","journal-title":"J Am Soc Nephrol"},{"key":"1523_CR16","doi-asserted-by":"publisher","first-page":"e180","DOI":"10.1097\/TP.0000000000002089","volume":"102","author":"C Choi","year":"2018","unstructured":"Choi C, Ahn S, Min S-K, Ha J, Ahn C, Kim Y, et al. Midterm outcome of kidney transplantation from donors with thin basement membrane nephropathy. Transplantation. 2018;102:e180\u20134. https:\/\/doi.org\/10.1097\/TP.0000000000002089 .","journal-title":"Transplantation."},{"key":"1523_CR17","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1681\/ASN.2012020148","volume":"24","author":"J Savige","year":"2013","unstructured":"Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol. 2013;24:364\u201375. https:\/\/doi.org\/10.1681\/ASN.2012020148 .","journal-title":"J Am Soc Nephrol"}],"container-title":["BMC Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-019-1523-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12882-019-1523-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-019-1523-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,27]],"date-time":"2022-09-27T05:22:54Z","timestamp":1664256174000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcnephrol.biomedcentral.com\/articles\/10.1186\/s12882-019-1523-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9,2]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["1523"],"URL":"https:\/\/doi.org\/10.1186\/s12882-019-1523-7","relation":{},"ISSN":["1471-2369"],"issn-type":[{"value":"1471-2369","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,9,2]]},"assertion":[{"value":"27 March 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 August 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 September 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Not applicable.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication was obtained from the index patient and all family members.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"340"}}