{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,6]],"date-time":"2025-07-06T04:01:10Z","timestamp":1751774470137,"version":"3.41.0"},"reference-count":26,"publisher":"Japanese Society of Internal Medicine","issue":"13","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2025,7,1]]},"DOI":"10.2169\/internalmedicine.4485-24","type":"journal-article","created":{"date-parts":[[2024,12,4]],"date-time":"2024-12-04T22:10:57Z","timestamp":1733350257000},"page":"2014-2018","source":"Crossref","is-referenced-by-count":0,"title":["A Re-evaluation of Renal Biopsy-based Diagnoses Through a Genetic Analysis in Two Families with Alport Syndrome"],"prefix":"10.2169","volume":"64","author":[{"given":"Yoshiaki","family":"Higashi","sequence":"first","affiliation":[{"name":"Department of Nephrology, Osaka Red Cross Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenichi","family":"Koga","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Osaka Red Cross Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masako","family":"Hasebe","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Osaka Red Cross Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiho","family":"Fukushima","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Osaka Red Cross Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiaki","family":"Omiya","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Osaka Red Cross Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keisuke","family":"Nishioka","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Osaka Red Cross Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kandai","family":"Nozu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kobe University Graduate School of Medicine, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kensei","family":"Yahata","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Osaka Red Cross Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"962","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Mallett A, Tang W, Clayton PA, et al. End-stage kidney disease due to Alport syndrome: outcomes in 296 consecutive Australia and New Zealand dialysis and transplant registry cases. Nephrol Dial Transplant 29: 2277-2286, 2014.","DOI":"10.1093\/ndt\/gfu254"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. 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 24: 364-375, 2013.","DOI":"10.1681\/ASN.2012020148"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Desmet FO, Hamroun D, Lalande M, Collod-B\u00e9roud G, Claustres M, B\u00e9roud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37: e67, 2009.","DOI":"10.1093\/nar\/gkp215"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Gibson J, Fieldhouse R, Chan MMY, et al. Prevalence estimates of predicted pathogenic COL4A3-COL4A5 variants in a population sequencing database and their implications for Alport syndrome. J Am Soc Nephrol 32: 2273-2290, 2021.","DOI":"10.1681\/ASN.2020071065"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Groopman EE, Marasa M, Cameron-Christie S, et al. Diagnostic utility of exome sequencing for kidney disease. N Engl J Med 380: 142-151, 2019.","DOI":"10.1056\/NEJMc1903250"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol 11: 649-657, 2000.","DOI":"10.1681\/ASN.V114649"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Jais JP, Knebelmann B, Giatras I, et al. 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 14: 2603-2610, 2003.","DOI":"10.1097\/01.ASN.0000090034.71205.74"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Yamamura T, Nozu K, Fu XJ, et al. Natural history and genotype-phenotype correlation in female X-linked Alport syndrome. Kidney Int Rep 2: 850-855, 2017.","DOI":"10.1016\/j.ekir.2017.04.011"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Barozzi S, Soi D, Intieri E, et al. Vestibular and audiological findings in the Alport syndrome. Am J Med Genet A 182: 2345-2358, 2020.","DOI":"10.1002\/ajmg.a.61796"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Nozu K, Nakanishi K, Abe Y, et al. A review of clinical characteristics and genetic backgrounds in Alport syndrome. Clin Exp Nephrol 23: 158-168, 2019.","DOI":"10.1007\/s10157-018-1629-4"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Yao XD, Chen X, Huang GY, et al. Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis. Orphanet J Rare Dis 7: 100, 2012.","DOI":"10.1186\/1750-1172-7-100"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Adam J, Connor TM, Wood K, et al. Genetic testing can resolve diagnostic confusion in Alport syndrome. Clin Kidney J 7: 197-200, 2014.","DOI":"10.1093\/ckj\/sft144"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Kashtan CE. Alport syndrome: achieving early diagnosis and treatment. Am J Kidney Dis 77: 272-279, 2021.","DOI":"10.1053\/j.ajkd.2020.03.026"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Savige J, Lipska-Zietkiewicz BS, Watson E, et al. Guidelines for genetic testing and management of Alport syndrome. Clin J Am Soc Nephrol 17: 143-154, 2022.","DOI":"10.2215\/CJN.03120322"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Misra M, Nolph KD. Renal failure and deafness: branchio-oto-renal syndrome. Am J Kidney Dis 32: 334-337, 1998.","DOI":"10.1053\/ajkd.1998.v32.pm9708623"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Gooley K, Williams P, Mack H, et al. A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review. Ophthalmic Genet 44: 417-422, 2023.","DOI":"10.1080\/13816810.2023.2240881"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Vassallo D, Erekosima I, Kanigicherla D, O'Riordan E, Uthappa P, Chrysochou C. Myosin heavy chain-9-related disorders (MYH9-RD): a case report. Clin Kidney J 6: 516-518, 2013.","DOI":"10.1093\/ckj\/sft094"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Yamamura T, Horinouchi T, Nagano C, et al. Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome. Kidney Int 98: 1605-1614, 2020.","DOI":"10.1016\/j.kint.2020.06.038"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Bekheirnia MR, Reed B, Gregory MC, et al. Genotype-phenotype correlation in X-linked Alport syndrome. J Am Soc Nephrol 21: 876-883, 2010.","DOI":"10.1681\/ASN.2009070784"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Gross O, Licht C, Anders HJ, et al. Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy. Kidney Int 81: 494-501, 2012.","DOI":"10.1038\/ki.2011.407"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Heerspink HJL, Stef\u00e1nsson BV, Correa-Rotter R, et al. Dapagliflozin in patients with chronic kidney disease. N Engl J Med 383: 1436-1446, 2020.","DOI":"10.1056\/NEJMoa2024816"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Herrington WG, Staplin N, Wanner C, et al. Empagliflozin in patients with chronic kidney disease. N Engl J Med 388: 117-127, 2023.","DOI":"10.1056\/NEJMoa2204233"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Sen T, Heerspink HJL. A kidney perspective on the mechanism of action of sodium glucose co-transporter 2 inhibitors. Cell Metab 33: 732-739, 2021.","DOI":"10.1016\/j.cmet.2021.02.016"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Liu J, Cui J, Fang X, et al. Efficacy and safety of dapagliflozin in children with inherited proteinuric kidney disease: a pilot study. Kidney Int Rep 7: 638-641, 2022.","DOI":"10.1016\/j.ekir.2021.12.019"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Boeckhaus J, Gross O. Sodium-glucose cotransporter-2 inhibitors in patients with hereditary podocytopathies, Alport syndrome, and FSGS: a case series to better plan a large-scale study. Cells 10: 1815, 2021.","DOI":"10.3390\/cells10071815"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. Chavez E, Rodriguez J, Drexler Y, Fornoni A. Novel Therapies for Alport syndrome. Front Med (Lausanne) 9: 848389, 2022.","DOI":"10.3389\/fmed.2022.848389"}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/64\/13\/64_4485-24\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,5]],"date-time":"2025-07-05T03:46:27Z","timestamp":1751687187000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/64\/13\/64_4485-24\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,1]]},"references-count":26,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.4485-24","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"type":"print","value":"0918-2918"},{"type":"electronic","value":"1349-7235"}],"subject":[],"published":{"date-parts":[[2025,7,1]]},"article-number":"4485-24"}}