Neuro-gastrointestinal encephalopathy (MNGIE) as mitochondrial dysfunction: Difficult diagnosis and effective treatment
Joint Event on 17th International Conference on Nutrition and Fitness & 2nd International Conference on Gastroenterology and Digestive Disorders
May 23-24, 2019 | Vienna, Austria
O Y Grechanina, Y B Grechanina, S V Lesniak, T A Polubotko and O V Vasileeva
Kharkiv National Medical University, Ukraine
Posters & Accepted Abstracts : J Nutr Hum Health
Abstract:
MNGIE 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 and methods: classic clinical-genetic and modern
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.
Biography:
E-mail:
mgc@ukr.netPDF HTML