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Classification.

  1. Genetic principle (according to the inheritance principle):

  1. Autosome-dominant.

  2. Autsome-recessive.

  3. Y-linked (holandric).

  4. Mitochondrial.

  1. Clinical principle (according to the affected organs system):

  1. Nervous.

  2. Myo-neural.

  3. Skin.

  4. Optic.

  5. Of motor apparatus.

  6. Endocrine.

  7. Blood.

  8. Of cardio-vessel system.

  9. Mental.

  10. Of urosexual system.

  11. Of digestive tract.

  12. Of lungs.

  1. Pathogenetic principle (according to the direction of main pathogenetic link):

  1. Diseases of metabolism.

  2. Congenital development disorders ( of monogenic nature).

  3. Combinative statuses.

  1. WHO classification (11 groups):

  • Diseases connected with aminoacids exchange disorders.

  • Carbohydrates exchange disorders.

  • Lipid exchange disorders.

  • Steroid exchange disorders.

  • Purine and pirymidine bases disorders.

  • Exchange disorders in connective tissues, muscles and bones.

  • Molecular diseases of haem and porphyrine.

  • Exchange disorders in erythrocytes and of their development.

  • Anomalies of plasma proteins.

  • Diseases connected with the disturbances of exchange of structural proteins, circulating blood proteins (Hb and others).

Pathogenesis.

Principle links of molecular diseases pathogenesis are the following:

  • Mutant allele.

  • Pathological primary product (qualitatively or quantitatively).

  • Chain of consecutive biochemical processes.

  • Cells.

  • Organs.

  • Organism.

4 Main types.

  1. Excessive products amount synthesizing – gene acticity increasing – disease. Such type is not yet to be found in separate nosologic forms.

  2. Anomalous protein synthesizing – disorder in the system (organ, tissue, cell) where the protein provides its function. Such disorders are manifested at first at the molecular level. Example: circle-cell anaemia.

  3. Primary product synthesizing absence (frequence is the most) – disruption of one or another process in all biochemical reactions complex – toxic products-precursors accumulation. Example: phenylketonuria.

  4. Synthesizing of decreased normal primary product amount. Such diseases pathogenesis is the most variable because simultaneously with normal metabolism way there are pathological processes. Examples: β-thalassaemia, acatalasy.

Accumulation diseases – lysosomic enzymes deficiencies (e.g., mucopolysaccharidoses at glycosaminiglycanes accumulation).

Peroxisome diseases (about 18 of them are described) – are characterized by:

  • Craniofacial dismorphyes.

  • Cataracta.

  • Skin folds on neck.

  • Kidney cystas.

Membrane diseases – receptors disorders that lead to transport disturbances.

Examples:

  • Mucoviscidose.

  • Vitamin D-resistent rickets.

  • Testicular feminization et al.

Genocopies – mutations in different locuses of hereditary material thet phenotypically expressed similarly. For example, there are 6 phenylketonuria and 12 galactosemia forms that have one clinic.

Main molecular diseases.

  • Neurophybromatosis (Reclinghausen’s disease).

  • Myotonic dystrophy.

  • Familiar hypercholesterinaemia.

  • Marphan’s syndrome.

  • Elers-Danlo syndrome.

  • Phenylketonuria.

  • Mucoviscidosis.

  • Albinism.

  • Adrenogenital syndrome.

  • Myodystrophy Dushenn’s.

•Syndrom of mental retardation with X-chromosome break and many many others.

Chromosomal diseases is a large group of congenital inherited diseases which are clinically characterized by multiple developmental anomalies. The chromosome or genome mutations are on the basis of them. These 2 different mutation types are united in term “chromosome anomalies”.

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