{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T11:07:22Z","timestamp":1779188842706,"version":"3.51.4"},"reference-count":32,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Sage Open Medical Case Reports"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Alport syndrome is a genetic disorder of chronic kidney disease, hearing loss, and ocular abnormalities, caused by mutations in type IV collagen. While X-linked Alport Syndrome demonstrates characteristic severe renal failure in males, it has a variable presentation in females. Here, we present a case of a pregnant woman who was found to have X-linked Alport Syndrome with a heterozygous c.3587G&gt;A (p.Gly1196Glu) mutation in the\n                    <jats:italic toggle=\"yes\">COL4A5<\/jats:italic>\n                    gene. The patient presented in her third trimester of pregnancy with preexisting chronic proteinuria. Family history was notable for kidney failure in her mother and two brothers, consistent with suspected hereditary nephropathy. She developed worsening proteinuria and new-onset hematuria, without preeclampsia or renal failure, and was induced at 39\u2009weeks with an uncomplicated delivery. Genetic testing revealed a heterozygous c.3587G&gt;A (p.Gly1196Glu) mutation in the\n                    <jats:italic toggle=\"yes\">COL4A5<\/jats:italic>\n                    gene, consistent with X-linked Alport Syndrome. Postpartum, the patient had mildly worsened proteinuria that transiently reached nephrotic range before improving, with normal to low blood pressures. Out of concern for symptomatic hypotension, she was not a candidate for first-line therapy with renin-angiotensin-aldosterone system blockade. In cases of hereditary nephropathies such as X-linked Alport Syndrome, cascade testing may be highly considered to identify family members at risk. Our case demonstrates the variable phenotype of X-linked Alport Syndrome in females and the need for close management during pregnancy, along with the benefits of early genetic testing, given the risks of long-term renal, hearing, and ocular manifestations of this disease.\n                  <\/jats:p>","DOI":"10.1177\/2050313x261429614","type":"journal-article","created":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T14:59:07Z","timestamp":1773241147000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Heterozygous X-linked Alport syndrome in a pregnant woman: A case report"],"prefix":"10.1177","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-3704-9353","authenticated-orcid":false,"given":"Caroline","family":"Gee","sequence":"first","affiliation":[{"name":"Division of Nephrology, Hypertension, and Kidney Transplantation, Department of Medicine, University of California, Irvine, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew D.","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Hypertension, and Kidney Transplantation, Department of Medicine, University of California, Irvine, USA"},{"name":"Department of Medicine, University of Southern California\/Los Angeles General Medical Center, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dao","family":"Le","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Hypertension, and Kidney Transplantation, Department of Medicine, University of California, Irvine, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramy","family":"Hanna","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Hypertension, and Kidney Transplantation, Department of Medicine, University of California, Irvine, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,3,4]]},"reference":[{"key":"e_1_3_2_2_2","volume-title":"StatPearls","author":"Watson S","year":"2025","unstructured":"Watson S, Padala SA, Hashmi MF, et al. Alport syndrome. In: StatPearls [Internet]. StatPearls Publishing, 2025."},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.00580116"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.xkme.2020.05.014"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1159\/000530994"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000090034.71205.74"},{"key":"e_1_3_2_7_2","unstructured":"eGFR Calculator. National Kidney Foundation https:\/\/www.kidney.org\/professionals\/gfr_calculator (2021 accessed 20 April 2025)."},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.08.016"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.5414\/CN108561"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00404-018-4720-x"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2024.01.034"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.39576.709711.80"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI109308"},{"key":"e_1_3_2_14_2","doi-asserted-by":"crossref","unstructured":"Wagner CL Hollis BW. Early-life effects of vitamin D: a focus on pregnancy and lactation. Ann Nutr Metab 2020; 76(Suppl. 2): 16\u201328. https:\/\/doi.org\/10.1159\/000508422","DOI":"10.1159\/000508422"},{"key":"e_1_3_2_15_2","doi-asserted-by":"crossref","unstructured":"Christodoulaki V Kosma K Marinakis NM et al. Alport syndrome: clinical utility of early genetic diagnosis in children. Genes (Basel) 2024; 15(8): 1016. https:\/\/doi.org\/10.3390\/genes15081016","DOI":"10.3390\/genes15081016"},{"issue":"4","key":"e_1_3_2_16_2","article-title":"AJKD Atlas of renal pathology: Alport syndrome","volume":"68","author":"Fogo AB","year":"2016","unstructured":"Fogo AB, Lusco MA, Najafian B, et al. AJKD Atlas of renal pathology: Alport syndrome. Am J Kidney Dis 2016; 68(4): e15\u2013e16.","journal-title":"Am J Kidney Dis"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2011.452"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2011.407"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2015.05.045"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.3390\/jcm10132958"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1007\/s44162-023-00022-x"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1007\/s44162-024-00065-8"},{"key":"e_1_3_2_23_2","doi-asserted-by":"crossref","unstructured":"Brown E Heerspink HJL Cuthbertson DJ et al. SGLT2 inhibitors and GLP-1 receptor agonists: established and emerging indications. Lancet 2021; 398(10296): 262\u2013276. https:\/\/doi.org\/10.1016\/S0140-6736(21)00536-5","DOI":"10.1016\/S0140-6736(21)00536-5"},{"key":"e_1_3_2_24_2","doi-asserted-by":"crossref","unstructured":"Gross O Boeckhaus J Weber LT et al. Protocol and rationale for a randomized controlled SGLT2 inhibitor trial in paediatric and young adult populations with chronic kidney disease: DOUBLE PRO-TECT Alport. Nephrol Dial Transplant 2025; 40(4): 679\u2013687. https:\/\/doi.org\/10.1093\/ndt\/gfae180","DOI":"10.1093\/ndt\/gfae180"},{"key":"e_1_3_2_25_2","doi-asserted-by":"crossref","unstructured":"Agrawal G Agarwal B Shirsat P et al. Proteinuria in Alport syndrome: treatment with Sodium-Glucose Co-Transporter-2 (SGLT2) inhibitors. Cureus 2025; 17(5): e83455. https:\/\/doi.org\/10.7759\/cureus.83455","DOI":"10.7759\/cureus.83455"},{"key":"e_1_3_2_26_2","unstructured":"Padda IS Mahtani AU Parmar M. Sodium-Glucose Transport 2 (SGLT2) inhibitors. In: StatPearls. StatPearls Publishing http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK576405\/ (2025 accessed 22 December 2025)."},{"key":"e_1_3_2_27_2","doi-asserted-by":"crossref","unstructured":"Chesterman T Thynne TR. Harms and benefits of sodium-glucose co-transporter 2 inhibitors. Aust Prescr 2020; 43(5): 168\u2013171. https:\/\/doi.org\/10.18773\/austprescr.2020.049","DOI":"10.18773\/austprescr.2020.049"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24065522"},{"key":"e_1_3_2_29_2","first-page":"145","article-title":"Hydroxychloroquine ameliorates hematuria in children with X-linked Alport syndrome: retrospective case series study","volume":"16","author":"Sun L","year":"2023","unstructured":"Sun L, Kuang XY, Zhang J, et al. Hydroxychloroquine ameliorates hematuria in children with X-linked Alport syndrome: retrospective case series study. Pharmgenomics Pers Med 2023; 16: 145\u2013151.","journal-title":"Pharmgenomics Pers Med"},{"key":"e_1_3_2_30_2","unstructured":"Travere Therapeutics Inc. A phase 2 open-label single-arm cohort study to evaluate the safety efficacy and pharmacokinetics of sparsentan treatment in pediatric subjects with selected proteinuric glomerular diseases [Internet]. clinicaltrials.gov. Report No.: NCT05003986. https:\/\/clinicaltrials.gov\/study\/NCT05003986 (2025 accessed 20 April 2025)."},{"key":"e_1_3_2_31_2","unstructured":"Novartis Pharmaceuticals. A phase 2 open-label basket study of atrasentan in patients with proteinuric glomerular diseases [Internet]. clinicaltrials.gov. Report No.: NCT04573920. https:\/\/clinicaltrials.gov\/study\/NCT04573920 (2025 accessed 20 April 2025)."},{"key":"e_1_3_2_32_2","unstructured":"River 3 Renal Corp. A phase II multi-center open-label study to assess safety tolerability efficacy and pharmacokinetics of R3R01 in AS patients with uncontrolled proteinuria on ACE \/ ARB Inhibition and in Patients With Primary Steroid-Resistant FSGC [Internet]. clinicaltrials.gov. Report No.: NCT05267262. https:\/\/clinicaltrials.gov\/study\/NCT05267262 (2024; accessed 20 April 2025)."},{"key":"e_1_3_2_33_2","doi-asserted-by":"crossref","unstructured":"Savige J Sheth S Leys A et al. Ocular features in Alport syndrome: pathogenesis and clinical significance. Clin J Am Soc Nephrol 2015; 10(4): 703\u2013709. https:\/\/doi.org\/10.2215\/CJN.10581014","DOI":"10.2215\/CJN.10581014"}],"container-title":["Sage Open Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X261429614","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2050313X261429614","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X261429614","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T10:13:29Z","timestamp":1779185609000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2050313X261429614"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":32,"alternative-id":["10.1177\/2050313X261429614"],"URL":"https:\/\/doi.org\/10.1177\/2050313x261429614","relation":{},"ISSN":["2050-313X","2050-313X"],"issn-type":[{"value":"2050-313X","type":"print"},{"value":"2050-313X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"article-number":"2050313X261429614"}}