{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T10:18:33Z","timestamp":1771928313375,"version":"3.50.1"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T00:00:00Z","timestamp":1769731200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:p>\n                    A 7-year-old boy was admitted to the hospital for abdominal pain, vomiting, and edema. Examinations revealed microvascular hemolytic anemia, thrombocytopenia, acute kidney injury, and hypocomplementemia. He was diagnosed with atypical hemolytic uremic syndrome (aHUS), and treatment was initiated with a methylprednisolone pulse, followed by cyclophosphamide, mycophenolate mofetil, and fresh frozen plasma infusion, leading to remission. At the age of 12, he developed numbness in his fingers and pain in his toes while being febrile. At the age of 17, he presented with aggravated toe pain, renal impairment (creatinine concentration of 156\u202f\u03bcmol\/L; eGFR of 38.4\u202fmL\/min\/1.73\u202fm\n                    <jats:sup>2<\/jats:sup>\n                    ), and remarkable left ventricular hypertrophy accompanied by obstruction of the left ventricular outflow tract. Screening for Fabry disease (FD) revealed a decrease in alpha-galactosidase A (\n                    <jats:italic>\u03b1<\/jats:italic>\n                    -GalA) activity &amp;lt;1.00\u202f\u03bcmol\/L\/h, along with the identification of a variant of the \u03b1-GalA gene: c.611G\u202f&amp;gt;\u202fA (p.Trp204Ter). His father had a history of hypertrophic cardiomyopathy (HCM). Therefore, whole-exome sequencing of the pedigree was performed, and the results revealed an additional likely pathogenic MYH7 variant (c.1063G\u202f&amp;gt;\u202fA) (p.Ala355Thr). The final diagnoses included FD (classic), aHUS, and HCM (Fabry disease and MYH7 variants). Despite undergoing enzyme replacement therapy for FD, the patient\u2019s renal function progressed to chronic kidney disease (CKD) stage 5, and there was no improvement in cardiac hypertrophy after 2\u202fyears. This case highlights the diagnostic challenges and complex management of patients with multiple rare disorders and a compounded genetic background.\n                  <\/jats:p>","DOI":"10.3389\/fmed.2026.1700541","type":"journal-article","created":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T05:26:29Z","timestamp":1769750789000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["An unusual trilogy: a case of comorbid aHUS, Fabry disease, and hypertrophic cardiomyopathy"],"prefix":"10.3389","volume":"13","author":[{"given":"Qian","family":"Li","sequence":"first","affiliation":[{"name":"Department of Pediatric Nephrology and Rheumatism and Immunology, Shandong Provincial Hospital Affiliated to Shandong First Medical University","place":["Jinan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lichun","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology and Rheumatism and Immunology, Shandong Provincial Hospital Affiliated to Shandong First Medical University","place":["Jinan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology and Rheumatism and Immunology, Shandong Provincial Hospital Affiliated to Shandong First Medical University","place":["Jinan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenle","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology and Rheumatism and Immunology, Shandong Provincial Hospital Affiliated to Shandong First Medical University","place":["Jinan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanhua","family":"Duan","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine, The First Affiliated Hospital of Shandong First Medical University","place":["Jinan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junhui","family":"Zhen","sequence":"additional","affiliation":[{"name":"Department of Pathology, School of Basic Medical Sciences, Shandong University","place":["Jinan, Shandong, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuzhen","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology and Rheumatism and Immunology, Shandong Provincial Hospital Affiliated to Shandong First Medical University","place":["Jinan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,1,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1182\/hematology.2024000543","article-title":"Atypical hemolytic uremic syndrome: diagnosis, management, and discontinuation of 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case of coexistence between aHUS and Fabry's disease","volume":"36","author":"Coppola","year":"2019","journal-title":"G Ital Nefrol"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"789142","DOI":"10.3389\/fimmu.2021.789142","article-title":"Endothelial dysfunction in Fabry disease is related to glycocalyx degradation","volume":"12","author":"Pollmann","year":"2021","journal-title":"Front Immunol"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"1301","DOI":"10.3760\/cma.j.cn101070-20210813-00968","article-title":"Progress of diagnosis and treatment of Fabry disease","volume":"36","author":"Chen","year":"2021","journal-title":"Chin J Appl Clin Pediatr"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"128","DOI":"10.3760\/cma.j.cn112148-20231008-00263","article-title":"Chinese expert consensus on the diagnosis and treatment of adult Fabry disease cardiomyopathy","volume":"52","year":"2024","journal-title":"Chin J 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