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Journal of Nutrition and Human Health | Volume 3
May 23-24, 2019 | Vienna, Austria
Joint Event
2
nd
International Conference on
Gastroenterology and Digestive Disor
ders
17
th
International Conference on
Nutrition and Fitness
&
Neuro-gastrointestinal encephalopathy (MNGIE) as mitochondrial dysfunction:
Difficult diagnosis and effective treatment
O Y Grechanina, Y B Grechanina, S V Lesniak, T A Polubotko
and
O V Vasileeva
Kharkiv National Medical University, Ukraine
M
NGIE is a mitochondrial disease that is characterized
by disorders of the nervous system, endocrine
system and the gastrointestinal tract. We have gained
experience of prenatal manifestation of the disease. The
diagnosis of which was established at the age of 19. In
other cases, the disease manifested at 33 and 27 years.
The purpose of the study is to study the frequence and the
nature of the clinical manifestations of a rare hereditary
disease - MNGIE.
Materials andmethods:
classic clinical-genetic andmodern
technologies are used. Patient S. referred with a diagnosis
of colitis, malabsorption syndrome, gastroduodenitis,
cachexy.
Results of the study:
Complaints of progressive weight
loss (30 kg for 7 years), epigastric pain, flatulence, altered
defecation pattern (alternating constipation with diarrhea),
severe general weakness, amenorrhea.
Ill since 7 years:
epigastric pain, progressive weight loss.
After the flu, the condition progressively worsened: pain in
the epigastrium, general weakness, weight loss increased.
Pedigree is burdened with neurological (hyperkinetic
syndrome) and multifactorial pathology (hypertension,
chronic gastritis). Height - 166 cm, weight - 35 kg, severe
cachexia, mongoloid eye incision, divergent strabismus,
protruding ears, thoracic spine scoliosis, chest deformity,
hyperemia of nose skin, hands, feet, moderate myopia,
astigmatism. In the neurological status - ataxia, tremor.
Biochemistry:
↓ glucose, ↓ total protein, ↓ calcium, ↓
folic acid.
Ultrasound:
Moderate diffuse changes in the liver
parenchyma, low location of the gallbladder, signs of
pancreatopathy, crystaluria.
The course of individual rehabilitation drug therapy, which
primarily included energy therapy, as well as metabolic
cofactor therapy and diet therapy:
• Coenzyme Q
• cytochrome C
• L-carnitine
• creon
• omeprazole
• probiotics
• microhydrin
• vitamins B6, C, E, folic acid
Results:
In the case of MNGIE, it is possible to avoid death
by diagnosing and effective treatment.
e
:
mgc@ukr.net