title: Mitochondrial neurogastrointestinal encephalomyopathy treated with peritoneal dialysis and bone marrow transplantation.
abstract: 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.
authors.affiliation: SCU Nephrology, Dialysis and Transplantation, Department of Internal Medicine, Molinette Hospital, Turin, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Ariaudo
authors.forename: Germana
authors.initials: G
authors.lastname: Daidola
authors.forename: Bruno
authors.initials: B
authors.lastname: Ferrero
authors.forename: Cesare
authors.initials: C
authors.lastname: Guarena
authors.forename: Manuel
authors.initials: M
authors.lastname: Burdese
authors.forename: Giuseppe Paolo
authors.initials: GP
authors.lastname: Segoloni
authors.forename: Luigi
authors.initials: L
authors.lastname: Biancone
mesh_terms: D016026:Bone Marrow Transplantation; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000175:diagnosis / Q000628:therapy*; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000628:therapy*; D039141:Muscular Dystrophy, Oculopharyngeal; D009886:Ophthalmoplegia / Q000151:congenital; D010530:Peritoneal Dialysis; D055815:Young Adult; D028361:Mitochondrial Diseases