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- W3183451645 abstract "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 Complement Factor I and C3 . Therefore, it is important to differentiate aHUS from other thrombotic microangiopathies to improve the outcome." @default.
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- W3183451645 date "2021-07-01" @default.
- W3183451645 modified "2023-10-16" @default.
- W3183451645 title "Atypical haemolytic uraemic syndrome: a case of rare genetic mutation" @default.
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- W3183451645 doi "https://doi.org/10.1136/bcr-2021-244190" @default.
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