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Treatment of Mitochondrial Neurogastrointestinal Encephalomyopathy With Dialysis
Halûk Yavuz, MD;
Ahmet Özel, MD;
Mette Christensen, MSc;
Ernst Christensen, PhD;
Marianne Schwartz, PhD;
Mithat Elmaci, MD;
John Vissing, MD, PhD
Arch Neurol. 2007;64(3):435-438.
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.
Author Affiliations: Department of Pediatrics, Meram Medical Faculty, Selcuk University, Konya, Turkey (Drs Yavuz, Özel, and Elmaci); Neuromuscular Research Unit, Department of Neurology (Dr Vissing), and Department of Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen, Denmark (Ms M. Christensen and Drs E. Christensen and Schwartz).
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