Mitochondrial neurogastrointestinal encephalomyopathy treated with peritoneal dialysis and bone marrow transplantation

作者：Ariaudo Claudia; Daidola Germana^*; Ferrero Bruno; Guarena Cesare; Burdese Manuel; Segoloni Giuseppe Paolo; Biancone Luigi

来源：Journal of Nephrology, 2015, 28(1): 125-127.

DOI：10.1007/s40620-014-0069-9

• Mitochondrial neurogastrointestinal encephalomyopathy
• Peritoneal dialysis
• Therapeutic strategies

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare disease caused by thymidine phosphorylase deficiency which leads to toxic accumulations of thymidine (dThd) and deoxyuridine (dUrd). It lacks an established treatment and the prognosis is traditionally poor. We report a case of a young female patient with normal renal function and MNGIE treated by peritoneal dialysis (PD) and allogeneic bone marrow transplantation (BMT). PD was effective in reducing dThd and dUrd plasma levels and in improving clinical symptoms. To our knowledge, this is the first report on the beneficial effects of PD regarding MNGIE neurological symptoms. PD, therefore, should be considered especially in medically compromised patients as a supportive treatment to improve clinical conditions before BMT.

• 出版日期2015-2