title: Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis.
abstract: OBJECTIVE
  To study the effect of continuous ambulatory peritoneal dialysis on nucleoside levels and clinical course in a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Patient We studied a patient with genetically verified MNGIE, who prior to treatment had lost weight progressively, developed amenorrhea, vomited multiple times daily, and had abdominal pain. Intervention The patient was treated with peritoneal dialysis for 3 years, and the effect on symptoms and plasma concentrations of thymidine and deoxyuridine were monitored.
  
  
  RESULTS
  Dialysis stopped vomiting and reduced abdominal pain, and the patient gained 5 kg in weight and started to menstruate again. Symptoms returned if dialysis was paused. Dialysis did not affect plasma nucleoside levels.
  
  
  CONCLUSIONS
  This study shows an unambiguous clinical benefit of peritoneal dialysis on gastrointestinal symptoms in MNGIE. Dialysis did not affect nucleoside levels, indicating elevated thymidine and deoxyuridine levels are not solely responsible for the pathogenesis of MNGIE.
authors.affiliation: Department of Pediatrics, Meram Medical Faculty, Selcuk University, Konya, Turkey.
authors.forename: Halûk
authors.initials: H
authors.lastname: Yavuz
authors.forename: Ahmet
authors.initials: A
authors.lastname: Ozel
authors.forename: Mette
authors.initials: M
authors.lastname: Christensen
authors.forename: Ernst
authors.initials: E
authors.lastname: Christensen
authors.forename: Marianne
authors.initials: M
authors.lastname: Schwartz
authors.forename: Mithat
authors.initials: M
authors.lastname: Elmaci
authors.forename: John
authors.initials: J
authors.lastname: Vissing
mesh_terms: D000293:Adolescent; D003857:Deoxyuridine / Q000097:blood; D005260:Female; D005767:Gastrointestinal Diseases / Q000097:blood / Q000473:pathology / Q000628:therapy*; D006801:Humans; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D017237:Mitochondrial Encephalomyopathies / Q000097:blood / Q000473:pathology / Q000503:physiopathology / Q000628:therapy*; D010530:Peritoneal Dialysis / Q000379:methods*; D013936:Thymidine / Q000097:blood
chemical_list: D013936:Thymidine; D003857:Deoxyuridine