Medical genetics. Сontents module 6. Мitochondrial diseases

Abstract

The largest number of mitochondrias contains enerhotrophy organs - brain, heart, liver, skeletal muscle, kidney, endocrine and respiratory systems, so first of all, suffer these organs and systems together or alternately. Mitochondrial disease is genetically heterogeneous and clinically polymorphic. Early onset results in a heavier flow, given that the early manifestation of mitochondrial disease coincides with the abnormal accumulation of mutant DNA and proceeds progressively quickly. Depending on which organ affected, patients may present complaints of violations of motor control, muscle weakness and muscle pain, as localized and diffuse, gastrointestinal disturbances (vomiting, diarrhea with signs of exocrine pancreatic insufficiency) and swallowing difficulties, voice hoarseness, linked with weakness vocal ligaments, growth retardation, heart disease in a large spread of mitral valve prolapse to the different versions of cardiomyopathies, the formation of diabetes, liver disease, which contain hepatomegaly or different versions of idiopathic autoimmune hepatitis In these patients, may cause seizures or epi-equivalents, followed by the formation of epilepsy, problems with hearing (sensorineural deafness or hearing), visual (often changes associated with the optic nerve, including retinitis pigmentosa), respiratory disorders (worth Memory 'mind that the primary manifestation of distress - respiratory syndrome, which can lead to sudden death of a child or adult is repeated episodes of apnea in children, snoring and periodic cyanosis nasolabial triangle under emotional stress), lactic acidosis, which untreated can lead to acidotic coma common developmental disorders and susceptibility to frequent respiratory diseases (different types of immune disorders). The most common symptoms include the following mitohondriopaty syptomo - complex: • myopathy, polymyositis; • ophthalmopathy; • encephalopathy; • hepatomegaly; • cardiomegaly; • epilepsy; • diabetes. Most patients suffering from mitochondrial diseases impose the following complaints: • muscle weakness, fatigue, syndrome "lifeless baby" syndrome, chronic fatigue, exercise intolerance; • headaches, episodes of loss of consciousness and convulsive seizures, loss of previously acquired skills, dementia; • acidotic vomiting, coma; • skeleton disorders (dwarfism); • blurred vision, blindness, ophthalmoplegia; • hearing impairment; • cardialgia, myalgia. An examination of these patients exhibit the following changes: • elevated levels of lactate dehydrogenase; • elevated levels of alkaline phosphatase; • elevated kreatinfosfokinazy; • hypoglycemia; • hematuria; • increasing ESR; • rhabdomyolysis (identifying the phenomenon of "ragged" red fibers RRF by light microscopy of muscle biopsies); • lactic acidosis.