StatusThe thesis was presented on the 3 May, 2012
Approved by NCAA on the 5 July, 2012
Abstract– 0.42 Mb / in romanian
Keywords: cystic fibrosis (CF), malnutrition, pancreatic exocrine insufficiency, faecal elastase-1, mutation, CFTR gene, body mass index, osteodensitometry.
Field of research: pediatrics. Aim of the study: assessment of digestive system disturbances in children with cystic fibrosis correlated with the gene mutations for optimization of the therapeutic programs. Purpose: identification of CFTR mutations spectrum in patients with CF from the geographical area of Republic of Moldova; assessment of elastase-1 value for determining pancreatic insufficiency and the correlation with CFTR mutations in children with CF; assessment of nutritional status, clinical signs, imaging-endoscopic and histological peculiarities of digestive system lesions depending on genotype in children with CF; research of nutritional disorders impact on the bone mineralization in CF; optimization of pancreatic enzyme replacement therapy in accordance with the degree of pancreatic insufficiency in children with CF.
Scientific novelty and originality. For the first time in Moldova has been realized a clinical controlled complex trial of a representative group of patients with CF, which formed the basis for the National Register of Cystic Fibrosis. The molecular examination to identify mutations responsible for CF development, allowed the determination of CFTR mutations spectrum characteristic for the geographical area of Moldova. The study confirmed the high correlation of genotype-phenotype of pancreatic function in children with CF and that F508del mutation is responsible for the high frequency and severe degree of exocrine pancreatic insufficiency. Elastase-1 study results have argued the need for pancreatic enzyme replacement therapy in children with CF only, if exocrine pancreatic insufficient; estimation of clinical and explorative criteria in time showed that diagnosis age is a prognostic factor of the disease severity.
Important scientific problem solved. We have identified specific CFTR gene mutations in CF patients from Moldova and their interdependence with digestive lesions. We managed to optimize pancreatic enzyme replacement therapy in children with CF in accordance to the pancreatic insufficiency degree.
The theoretical significance of the work was to determine the frequency and characteristics of the digestive system modifications in children with CF, which allowed the elucidation of etiopathogenical mechanisms in disease evolution.
Applicative value of the research is the determination of the peculiarities of the digestive system modifications for early suspicion and confirmation of CF in children. Assessment of fecal elastase-1 levels is recommended as a reference index in the diagnosis of exocrine pancreatic insufficiency in patients with CF. The body mass index has been proposed for the nutritional status evaluation in these children. It was proposed the use of clinical-radiological score in the disease severity assessment.
Implementation of scientific results. The scientific value of the results was approved and implemented in the curative activity of Pneumology Ward of Public Medical-Sanitary Institution the Research Institute of Mother and Child Health Care, as well as in
educational activities of the Pediatric Department, Medical University „Nicolae Testemitanu”.