{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T04:57:27Z","timestamp":1774414647007,"version":"3.50.1"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,10,30]],"date-time":"2021-10-30T00:00:00Z","timestamp":1635552000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,10,30]],"date-time":"2021-10-30T00:00:00Z","timestamp":1635552000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Nephrol"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Alport Syndrome and IgA Nephropathy (IgAN) are both disorders that can cause hematuria. Alport syndrome is most commonly an X-linked disease, caused by COL4A5 mutation. Mutations of COL4A3 and COL4A4 on chromosome two are also common causes of Alport syndrome. IgAN is the most common glomerulonephritis worldwide. Though IgAN is usually sporadic, an estimated 15% of cases have an inheritable component. These cases of Familal IgA Nephropathy (FIgAN) can have mutations on genes which are known to cause Alport Syndrome.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We report a case of a 27-year-old man with strong family history of renal disease, who presented with hematuria and new non-nephrotic range proteinuria. Physical exam showed no abnormalities. His creatinine remained persistently elevated, and renal ultrasound exhibited bilaterally increased echogenicity consistent with Chronic Kidney Disease. Twenty-four-hour urinary collection revealed non-nephrotic range proteinuria of 1.4\u2009g, with otherwise negative workup. On biopsy, he had IgA positive immunofluorescent staining as well as moderate interstitial fibrosis and tubular atrophy. Electron microscopy showed a basket-weave pattern of thickening and splitting of the lamina densa-consistent with Alport Syndrome, as well as mesangial expansion with electron-dense deposits -consistent with IgAN.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Mutations of COL4A5 on the X chromosome, as well as mutations of COL4A3 and COL4A4 on chromosome 2, can cause both Alport Syndrome and FIgAN. Genome wide association studies identified certain Angiotensin Converting Enzyme gene polymorphisms as independent risk factors for progression of IgAN. Our Presentation with this co-occurring pathology suggests a new paradigm where Alport Syndrome and FIgAN may represent manifestations of a single disease spectrum rather than two disparate pathologies. Appreciating hematuria through this framework has implications for treatments and genetic counseling. Further genome wide association studies will likely increase our understanding of Alport Syndrome, FIgAN, and other causes of hematuria.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12882-021-02567-9","type":"journal-article","created":{"date-parts":[[2021,10,30]],"date-time":"2021-10-30T17:02:33Z","timestamp":1635613353000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Tale of two nephropathies; co-occurring Alport syndrome and IgA nephropathy, a case report"],"prefix":"10.1186","volume":"22","author":[{"given":"Aniruddha","family":"Bhattacharyya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuting","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah Hussain","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cinthia Beskow","family":"Drachenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5894-7051","authenticated-orcid":false,"given":"Laura C.","family":"Malone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,10,30]]},"reference":[{"key":"2567_CR1","volume-title":"Immunoglobulin a nephropathy and related disorders. In Gilbert SJ, Weiner DE, Bomback AS, Perazella MA, Tonelli M. National Kidney Foundation\u2019s primer on kidney diseases. 7th ed","author":"SC Yeo","year":"2018","unstructured":"Yeo SC, Barratt J. Immunoglobulin a nephropathy and related disorders. In Gilbert SJ, Weiner DE, Bomback AS, Perazella MA, Tonelli M. National Kidney Foundation\u2019s primer on kidney diseases. 7th ed. Philadelphia: Elsevier; 2018."},{"key":"2567_CR2","volume-title":"Immunoglobulin a nephropathy and IgA Vasculitis (Henoch-Schonlein Purpura). In Feehally J, Floege J, Tonelli M, Johnson RJ. Comprehensive clinical nephrology. 6th ed","author":"J Feehally","year":"2018","unstructured":"Feehally J, Floege J. Immunoglobulin a nephropathy and IgA Vasculitis (Henoch-Schonlein Purpura). In Feehally J, Floege J, Tonelli M, Johnson RJ. Comprehensive clinical nephrology. 6th ed. New York: Elsevier; 2018."},{"key":"2567_CR3","volume-title":"Comprehensive clinical nephrology","author":"MC Gregory","year":"2018","unstructured":"Gregory MC. Alport syndrome and related disorders. In: Feehally J, Floege J, Tonelli M, Johnson RJ, editors. Comprehensive clinical nephrology. 6th ed. New York: Elsevier; 2018.","edition":"6"},{"key":"2567_CR4","volume-title":"Comprehensive clinical nephrology","author":"MN Rheault","year":"2018","unstructured":"Rheault MN, Kashtan CE. Alport syndrome and other familial glomerular syndromes. In: Feehally J, Floege J, Tonelli M, Johnson RJ, editors. Comprehensive clinical nephrology. 6th ed. New York: Elsevier; 2018.","edition":"6"},{"issue":"8","key":"2567_CR5","doi-asserted-by":"publisher","first-page":"2408","DOI":"10.1681\/ASN.2007020241","volume":"18","author":"AD Paterson","year":"2007","unstructured":"Paterson AD, Liu XQ, Wang K, Magistroni R, Song X, Kappel J, et al. Genome-wide linkage scan of a large family with IgA nephropathy localizes a novel susceptibility locus to chromosome 2q36. J Am Soc Nephrol. 2007;18(8):2408\u201315.","journal-title":"J Am Soc Nephrol"},{"issue":"8","key":"2567_CR6","doi-asserted-by":"publisher","first-page":"1183","DOI":"10.1007\/s00467-012-2399-y","volume":"28","author":"DP Gale","year":"2013","unstructured":"Gale DP. How benign is hematuria? Using genetics to predict prognosis. Pediatr Nephrol. 2013;28(8):1183\u201393.","journal-title":"Pediatr Nephrol"},{"issue":"2","key":"2567_CR7","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1159\/000503564","volume":"144","author":"CP Stapleton","year":"2020","unstructured":"Stapleton CP, Kennedy C, Fennelly NK, Murray SL, Connaughton DM, Dorman AM, et al. An exome sequencing study of 10 families with IgA nephropathy. Nephron. 2020;144(2):72\u201383.","journal-title":"Nephron."},{"issue":"7","key":"2567_CR8","doi-asserted-by":"publisher","first-page":"1113","DOI":"10.1093\/ndt\/gfaa176","volume":"35","author":"SL Murray","year":"2020","unstructured":"Murray SL, Fennelly NK, Doyle B, Lynch SA, Conlon PJ. Integration of genetic and histopathology data in interpretation of kidney disease. Nephrol Dial Transplant. 2020;35(7):1113\u201332.","journal-title":"Nephrol Dial Transplant"},{"issue":"5","key":"2567_CR9","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1016\/j.semnephrol.2018.05.014","volume":"38","author":"YD Neugut","year":"2018","unstructured":"Neugut YD, Kiryluk K. Genetic determinants of IgA nephropathy: Western perspective. Semin Nephrol. 2018;38(5):443\u201354 WB Saunders.","journal-title":"Semin Nephrol"},{"issue":"5","key":"2567_CR10","doi-asserted-by":"publisher","first-page":"1818","DOI":"10.1046\/j.1523-1755.2000.00032.x","volume":"57","author":"I Stephen","year":"2000","unstructured":"Stephen I, Hsu H, Ramirez SB, Winn MP, Bonventre JV, Owen WF. Evidence for genetic factors in the development and progression of IgA nephropathy. Kidney Int. 2000;57(5):1818\u201335.","journal-title":"Kidney Int"},{"key":"2567_CR11","unstructured":"OMIM Gene\/Loci: 971\u2013980 of 1,093 on Chromosome 2. https:\/\/www.omim.org\/geneMap\/2\/975?start=-3&limit=10&highlight=975. Accessed 30 March 2021."},{"key":"2567_CR12","unstructured":"Gharavi A, Kiryluk K, Lifton R. Methods for identifying subjects with a genetic risk for developing IgA nephropathy (U.S. Patent No. 10,358,678). U.S. Patent and Trademark Office. 2019. https:\/\/patentimages.storage.googleapis.com\/cf\/d6\/e0\/dd9b16c94fc188\/WO2012112955A3.pdf"}],"container-title":["BMC Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-021-02567-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12882-021-02567-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-021-02567-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,30]],"date-time":"2021-10-30T17:03:50Z","timestamp":1635613430000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcnephrol.biomedcentral.com\/articles\/10.1186\/s12882-021-02567-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,30]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["2567"],"URL":"https:\/\/doi.org\/10.1186\/s12882-021-02567-9","relation":{},"ISSN":["1471-2369"],"issn-type":[{"value":"1471-2369","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,30]]},"assertion":[{"value":"25 May 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 October 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 October 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not Applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare that they have obtained consent from the patient discussed in this report. The patient provided verbal and written consent to share clinical details and histologic images for this report.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"All authors do not declare any competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"358"}}