{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:10:01Z","timestamp":1756375801991,"version":"3.44.0"},"reference-count":19,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,6,30]]},"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:p>Complement-mediated kidney disease has been an evolving area in the field of nephrology. Atypical haemolytic uraemic syndrome (aHUS) is a rare thrombotic microangiopathy that affects multiple organs, particularly kidneys. The disease is characterised by a triad of haemolytic anaemia, thrombocytopenia and acute kidney injury (AKI). aHUS is most commonly caused by dysregulation of alternative complement pathway. In contrast to shiga toxin-associated haemolytic uraemic syndrome, diarrheal prodrome is usually absent in children with aHUS. We report a 2-year, 9-month-old boy who presented with acute dysentery and AKI. He had an unusual prolonged course of illness with hypocomplementaemia; hence, genetic testing was performed. He had a storming course in the hospital and succumbed to complications of the disease. Genetic study revealed digenic mutation in <jats:italic>Complement Factor I and C3<\/jats:italic>. Therefore, it is important to differentiate aHUS from other thrombotic microangiopathies to improve the outcome.<\/jats:p>","DOI":"10.1136\/bcr-2021-244190","type":"journal-article","created":{"date-parts":[[2021,7,30]],"date-time":"2021-07-30T10:37:10Z","timestamp":1627641430000},"page":"e244190","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Atypical haemolytic uraemic syndrome: a case of rare genetic mutation"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0734-1126","authenticated-orcid":false,"given":"Geminiganesan","family":"Sangeetha","sequence":"first","affiliation":[{"name":"Department of Paediatric Nephrology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0551-513X","authenticated-orcid":false,"given":"Jaippreetha","family":"Jayaraj","sequence":"additional","affiliation":[{"name":"Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1943-1527","authenticated-orcid":false,"given":"Swathi","family":"Ganesan","sequence":"additional","affiliation":[{"name":"Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sreeapoorva","family":"Puttagunta","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,7,30]]},"reference":[{"key":"2025082802373276000_14.7.e244190.1","doi-asserted-by":"crossref","first-page":"295","DOI":"10.2147\/CLEP.S245642","article-title":"Epidemiology of atypical hemolytic uremic syndrome: a systematic literature review","volume":"12","author":"Yan","year":"2020","journal-title":"Clin Epidemiol"},{"key":"2025082802373276000_14.7.e244190.2","unstructured":"Atypical hemolytic uremic syndrome. National organization for rare disorders. 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The long-acting C5 inhibitor, ravulizumab, is effective and safe in pediatric patients with atypical hemolytic uremic syndrome na\u00efve to complement inhibitor treatment. 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