Pichkur N. Orphan Inherited Metabolic Diseases: the System of Early Diagnosis and Modification of Treatment

Українська версія

Thesis for the degree of Doctor of Science (DSc)

State registration number

0521U100978

Applicant for

Specialization

  • 03.00.15 - Генетика

22-04-2021

Specialized Academic Board

Д 26.562.02

State Institution "National Research Centre For Radiation Medicine of National Academy of Medical Sciences of Ukraine"

Essay

The dissertation is devoted to the elaboration of the orphan inherited metabolic diseases (OIMD) early diagnosis system at all levels of medical care. For the first time in Ukraine, the frequency and structure of macromolecular and micromolecular OІMD have been established. It is established that the frequency of most common lysosomal storage diseases (LSD) in Ukraine was lower than in other countries. The molecular genetic structure of the most common OІMD in Ukraine was determined. The research of the selective screening effectiveness for Fabry disease among 4400 patients with chronic renal stage from all centers of chronic dialysis in Ukraine was carried out. Screening efficiency was found to be low. The informativeness and optimal values of biomarkers FGF21 and neopterine were investigated. FGF21 has been shown to be more informative for the diagnosis for organic academies than mitochondrial diseases. It has been established that neopterin can be used to determine the formation of neuronopathic forms in patients with LSD. There were statistically significant differences in changes in neuroimmune reactions in patients with neuronopathic and non –neuronopathic LSD, which can be used in the choice of treatment. It has been shown that the effectiveness of ERT in Gaucher patients does not depend on the genotype and significantly affects the clinical status of MPS patients depending on the forms of disease. Based on the results, the most common orphan’s inherited metabolic diseases early diagnosis concept for all levels of medical care was worked out and proposed algorithms for diagnostic and diagnostic-therapeutic measure for patients with suspected OHMD for implementation of personalize treatment.

Files

Similar theses