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

J 2018

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

KUČEROVÁ, Lenka, Jiří DOLINA, Milan DASTYCH, Daniel BARTUŠEK, Tomáš HONZÍK et. al.

Základní údaje

Originální název

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

Autoři

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

Vydání

Journal of Gastrointestinal and Liver Diseases, CLUJ-NAPOCA, MEDICAL UNIV PRESS, 2018, 1841-8724

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30219 Gastroenterology and hepatology

Stát vydavatele

Rumunsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.063

DOI

http://dx.doi.org/10.15403/jgld.2014.1121.273.kuc

UT WoS

000444455800018

Klíčová slova anglicky

Genetic disease; MNGIE; thymidine phosphorylase; malnutrition; neuropathy; Crohn's disease; anorexia nervosa

Příznaky

Mezinárodní význam

Změněno: 20. 2. 2019 16:20, Soňa Böhmová

Anotace

V originále

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.

Citovat

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.

@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.

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