ea0094p8 | Adrenal and Cardiovascular | SFEBES2023
Berry Simon
, Bates Suzanne
, Wright Josh
, Samuelson Clare
, Debono Miguel
Background: Diamond Blackfan anaemia (DBA) is a condition caused by mutations in ribosomal protein genes. After the first year of life, the mainstay of treatment is corticosteroids whilst red blood cell transfusions are used for patients who do not respond.Case: We present a case of a 20-year-old woman with a history of DBA (RPS19 mutation), initially treated with courses of prednisolone, who aged 3 developed steroid-ind...