Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis

Halûk Yavuz; Ahmet Ozel; Mette Christensen; Ernst Christensen; Marianne Schwartz; Mithat Elmaci; John Vissing

doi:10.1001/archneur.64.3.435

Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis

Halûk Yavuz, Ahmet Ozel, Mette Christensen, Ernst Christensen, Marianne Schwartz, Mithat Elmaci, John Vissing

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.

Original language	English
Journal	Archives of Neurology
Volume	64
Issue number	3
Pages (from-to)	435-8
Number of pages	4
ISSN	0003-9942
DOIs	https://doi.org/10.1001/archneur.64.3.435
Publication status	Published - Mar 2007

Keywords

Adolescent
Deoxyuridine/blood
Female
Gastrointestinal Diseases/blood
Humans
Longitudinal Studies
Magnetic Resonance Imaging
Mitochondrial Encephalomyopathies/blood
Peritoneal Dialysis/methods
Thymidine/blood

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10.1001/archneur.64.3.435

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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.",

keywords = "Adolescent, Deoxyuridine/blood, Female, Gastrointestinal Diseases/blood, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Mitochondrial Encephalomyopathies/blood, Peritoneal Dialysis/methods, Thymidine/blood",

author = "Hal{\^u}k Yavuz and Ahmet Ozel and Mette Christensen and Ernst Christensen and Marianne Schwartz and Mithat Elmaci and John Vissing",

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doi = "10.1001/archneur.64.3.435",

language = "English",

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TY - JOUR

T1 - Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis

AU - Yavuz, Halûk

AU - Ozel, Ahmet

AU - Christensen, Mette

AU - Christensen, Ernst

AU - Schwartz, Marianne

AU - Elmaci, Mithat

AU - Vissing, John

PY - 2007/3

Y1 - 2007/3

N2 - 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.

AB - 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.

KW - Adolescent

KW - Deoxyuridine/blood

KW - Female

KW - Gastrointestinal Diseases/blood

KW - Humans

KW - Longitudinal Studies

KW - Magnetic Resonance Imaging

KW - Mitochondrial Encephalomyopathies/blood

KW - Peritoneal Dialysis/methods

KW - Thymidine/blood

U2 - 10.1001/archneur.64.3.435

DO - 10.1001/archneur.64.3.435

M3 - Journal article

C2 - 17353390

SN - 0003-9942

VL - 64

SP - 435

EP - 438

JO - Archives of Neurology

JF - Archives of Neurology

IS - 3

ER -

Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis

Abstract

Keywords

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