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Results of own researches

Among 158 children genetic inspection is made at 132 patients. The genotype of disease of the surveyed patients is presented in such a manner that frequency of the most widespread mutation F508del is taped at 110 patients (83,3 %).

At 44 children the mutation met in a homozygous condition (F508del/F508del), that has made 33,2 %. In 66 cases (50,1 %) F508del it has been taped in kompaundnom a condition with not identified second mutation (47 cases (35,5 %)), or it was combined with such mutations as: CFTR dele 2,3 (21kb) (7,6 %), N1303K (0,8 %), W1282X (0,8 %), W1282R (0,8 %), R334W (0,8 %), 2184insA (0,8 %), 2143delT (1,6 %), 3849+10kbC-T (1,6 %). The group of patients with the mutations which are distinct from F508del has made 16,7 % (22 patients), from them at 13,4 % of a mutation have appeared not identified. At 63 surveyed patients the "serious" genotype (two mutations of 1 or 2 classes), at 4 - "soft" (presence are taped, at least, one mutation from 5 classes (dele 2,3 (21kb)) is identified.

For carriers of mutation F508del in gomo - or a heterozygotic condition (with mutations 1,2 classes: dele 2,3 (21kb), N1303K, W1282X, W1282R, R334W, 2184insA, 2143delT (a serious genotype)), the admixed form of disease, and also, fast advance bronholegochnogo process, a frequent, early becoming infected Gram-negative flora and formation of serious lesions of a liver is characteristic. At patients with a "soft" genotype (gomo - or a heterozygotic carriage of a mutation 3849+10kbC> T) the diagnosis was put at later age, nutritivnyj and the respiratory status is long remain safe, a becoming infected bronholegochnogo a tract and lesions are gastrointestinal tract observed by Gram-negative flora authentically less often, than at patients with «a serious genotype». Mekonialnyj ileus (MI) and a syndrome distal intestinalnoj obstructions (SDIO) are noted in the anamnesis only in group with "serious" genotypes (F508del/F508del and F508del/dele 2,3 (21kb).

In spite of the fact that the characteristic clinical picture of disease was developed at the majority of patients already in the first months of a life (a respiratory syndrome at 82,6 %, intestinal – at 91,5 %, a low increase of mass of a body on the first year of a life, despite good leaving and safe appetite at 62,1 %, rectal prolaps at 12,0 %, mekonialnyj ileus at 8,23 % of patients) the diagnosis on the first year has been exposed only at 36,7 % of children (middle age of statement of the diagnosis in studied group was equaled 3,93±1,7 year). Nine patients have been taped under the program of neonatal screening. In the Astrakhan area under the program of obligatory neonatal screening for 2007-2008 3 children have been taped. Results of research testify, that frequency of occurrence of a mucoviscidosis in the Astrakhan area has made 1:7032 newborns, that more low, than in Siberia (Tomsk 1:2374) and the European part of Russia (Voronezh 1:4700, Tambov 1:4890). It can be bound to national features of the population living in region. According to population census in the Astrakhan area, representatives mongoloidnoj races for which MV it is diagnosed less often, make more than 15 %. At the same time, in Tomsk, Voronezh, Tambov where frequency MV above, the share evropeoidov makes from 96,3 % (Voronezh) to 99,4 % (Tomsk), and representatives mongoloidnoj races do not exceed 0,5-3 % of all population.

From 158 observable patients with MV at 132 (84,3 %) disease proceeded with complications. The following was most often diagnosed: pulmonary heart (38,7 %), biliarnyj a cirrhosis with a syndrome of an intrahepatic portal hypertensia (22,3 %), nose polyps (16,5 %), atelectases in lungs (8,3 %), mekonialnyj ileus (8,2 %) an osteoporosis (6,3 %). There was a pneumorrhagia (2,6 %), a diabetes (5,6 %), a syndrome distal intestinalnoj obstructions (3,2 %) Less often.

At patients with chronic colonisation of bronchial tree P. aeruginosa and B.cepacia, in comparison with patients with a staphylococcal infection, authentically were more often observed as pulmonary complications, such as atelectases (r

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Scientific source SERGIENKO DIANA FIKRETOVNA. CLINICO-PATHOGENETIC VALUE OF GENETIC UPDATINGS AND DISTURBANCE IMMUNOREGULJATORNYH OF MECHANISMS AT CHILDREN With the MUCOVISCIDOSIS. The dissertation author's abstract on competition of a scientific degree of the doctor of medical sciences. Astrakhan - 2011. 2011

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Other medical related information Results of own researches:

  1. Chapter 3 Results of own researches
  2. 2.2. The organisation of epidemiological research («ISAAC») and tayobakokurenija among teenagers, a general characteristic of the surveyed groups of teenagers, clinico-functional and laboratory methods issledovayonija
  3. Chapter 2 Base, the program, a research technique
  4. DISCUSSION OF RESULTS OF OWN RESEARCH
  5. Chapter 3 Results of own researches
  6. Clinico-Anamnestichesky and urodinamicheskie research methods.
  7. volume of observations and the executed researches.
  8. Chapter 2. The GENERAL CLINICAL CHARACTERISTIC of PATIENTS And RESEARCH METHODS
  9. Chapter 3. RESULTS of OWN RESEARCHES
  10. functional methods and volume of researches of lungs at children with a mucoviscidosis
  11. Chapter 7 DISCUSSION of RESULTS of RESEARCH
  12. research Methods
  13. 2.2.3. Microcirculation research in lungs
  14. CHAPTER 3 RESULTS of OWN RESEARCHES
  15. CHAPTER 4. DISCUSSION of the RECEIVED RESULTS
  16. RESULTS OF OWN RESEARCHES
  17. 2.3. Methods of the scientific analysis of the received results
  18. CHAPTER 3. RESULTS OF ULTRASONIC RESEARCHES IN DIAGNOSTICS OF GOOD-QUALITY AND MALIGNANT TUMOURS OF SOFT TISSUES