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Mitochondrial Neurogastrointestinal Encephalomyopathy Imitating Crohn's Disease: A Rare Cause of Malnutrition

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KUČEROVÁ Lenka DOLINA Jiří DASTYCH Milan BARTUŠEK Daniel HONZÍK Tomáš MAZANEC Jan KUNOVSKÝ Lumír

Rok publikování 2018
Druh Článek v odborném periodiku
Citace
www http://www.jgld.ro/wp/archive/y2018/n3/a18/?fbclid=IwAR0lgfbTarNNIwo21jBQUg8b3uxgwm8aZ4u8pV5eeRsjhUw7UELz9SIF5m8
Doi http://dx.doi.org/10.15403/jgld.2014.1121.273.kuc
Klíčová slova Genetic disease; MNGIE; thymidine phosphorylase; malnutrition; neuropathy; Crohn's disease; anorexia nervosa
Popis Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by a mutation in the TYMP gene encoding thymidine phosphorylase. MNGIE causes gastrointestinal and neurological symptoms in homozygous individuals and is often misdiagnosed as anorexia nervosa, inflammatory bowel disease, or celiac disease. We present the case of a 26-year-old female with MNGIE, who was initially diagnosed with anorexia nervosa and Crohn's disease. The diagnosis of MNGIE was established by biochemical confirmation of elevated serum and urine thymidine and deoxyuridine levels after multiple examinations and several years of disease progression and ineffective treatment. Subsequent molecular genetic testing demonstrated a homozygous TYMP gene mutation. MNGIE should be considered in patients with unexplained malnutrition, intestinal dysmotility, and atypical neurological symptoms.

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