KUČEROVÁ, Lenka, Jiří DOLINA, Milan DASTYCH, Daniel BARTUŠEK, Tomáš HONZÍK, Jan MAZANEC a Lumír KUNOVSKÝ. Mitochondrial Neurogastrointestinal Encephalomyopathy Imitating Crohn's Disease: A Rare Cause of Malnutrition. Journal of Gastrointestinal and Liver Diseases. CLUJ-NAPOCA: MEDICAL UNIV PRESS, 2018, roč. 27, č. 3, s. 321-325. ISSN 1841-8724. Dostupné z: https://dx.doi.org/10.15403/jgld.2014.1121.273.kuc. |
Další formáty:
BibTeX
LaTeX
RIS
@article{1484057, author = {Kučerová, Lenka and Dolina, Jiří and Dastych, Milan and Bartušek, Daniel and Honzík, Tomáš and Mazanec, Jan and Kunovský, Lumír}, article_location = {CLUJ-NAPOCA}, article_number = {3}, doi = {http://dx.doi.org/10.15403/jgld.2014.1121.273.kuc}, keywords = {Genetic disease; MNGIE; thymidine phosphorylase; malnutrition; neuropathy; Crohn's disease; anorexia nervosa}, language = {eng}, issn = {1841-8724}, journal = {Journal of Gastrointestinal and Liver Diseases}, title = {Mitochondrial Neurogastrointestinal Encephalomyopathy Imitating Crohn's Disease: A Rare Cause of Malnutrition}, url = {http://www.jgld.ro/wp/archive/y2018/n3/a18/?fbclid=IwAR0lgfbTarNNIwo21jBQUg8b3uxgwm8aZ4u8pV5eeRsjhUw7UELz9SIF5m8}, volume = {27}, year = {2018} }
TY - JOUR ID - 1484057 AU - Kučerová, Lenka - Dolina, Jiří - Dastych, Milan - Bartušek, Daniel - Honzík, Tomáš - Mazanec, Jan - Kunovský, Lumír PY - 2018 TI - Mitochondrial Neurogastrointestinal Encephalomyopathy Imitating Crohn's Disease: A Rare Cause of Malnutrition JF - Journal of Gastrointestinal and Liver Diseases VL - 27 IS - 3 SP - 321-325 EP - 321-325 PB - MEDICAL UNIV PRESS SN - 18418724 KW - Genetic disease KW - MNGIE KW - thymidine phosphorylase KW - malnutrition KW - neuropathy KW - Crohn's disease KW - anorexia nervosa UR - http://www.jgld.ro/wp/archive/y2018/n3/a18/?fbclid=IwAR0lgfbTarNNIwo21jBQUg8b3uxgwm8aZ4u8pV5eeRsjhUw7UELz9SIF5m8 L2 - http://www.jgld.ro/wp/archive/y2018/n3/a18/?fbclid=IwAR0lgfbTarNNIwo21jBQUg8b3uxgwm8aZ4u8pV5eeRsjhUw7UELz9SIF5m8 N2 - 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. ER -
KUČEROVÁ, Lenka, Jiří DOLINA, Milan DASTYCH, Daniel BARTUŠEK, Tomáš HONZÍK, Jan MAZANEC a Lumír KUNOVSKÝ. Mitochondrial Neurogastrointestinal Encephalomyopathy Imitating Crohn's Disease: A Rare Cause of Malnutrition. \textit{Journal of Gastrointestinal and Liver Diseases}. CLUJ-NAPOCA: MEDICAL UNIV PRESS, 2018, roč.~27, č.~3, s.~321-325. ISSN~1841-8724. Dostupné z: https://dx.doi.org/10.15403/jgld.2014.1121.273.kuc.
|