Advices for Life

Diseases Of Children

December 29, 2016 00:08

Wiskott-Aldrich Syndrome |Symptoms and Treatment of Wiskott-Aldrich syndrome

syndrome Wiskott-Aldrich (Wiscott-Aldrich syndrome, WAS) (OMIM # 301000) - X-linked disease, the main symptoms of which are mikrotrombotsitopeniya, eczema and immune deficiency.The incidence of the disease is about 1 in 250,000 male births. history of the disease Wiskott in 1937 first described three brothers with the manifestations of thrombocytopenia, melena, eczema, and frequent infec...

December 27, 2016 00:07

Hemolytic anemia associated with mechanical red cell damage shell

Hemolytic anemia associated with mechanical damage of erythrocyte membranes, occur in patients with prosthetic aortic valve due to intravascular destruction of red blood cells.Hemolysis is caused by the prosthetic device (mechanical valves) or dysfunction (okoloklapannaya regurgitation).Bioprosthesis and artificial valves in the mitral position rarely lead to significant hemolysis.Mechanica...

December 27, 2016 00:07

Paroxysmal nocturnal hemoglobinuria ( Marchiafava - Micheli disease)

Paroxysmal nocturnal hemoglobinuria (Marchiafava-Micheli disease) - a rare form of acquired hemolytic anemia, occurring with a frequency of 1:50 000 in the population. In paroxysmal nocturnal hemoglobinuria clone of hematopoietic cells lose the ability to synthesize glikanfosfatidilinozitol required for binding complement regulators to the erythrocyte membrane, which makes the red blood ce...

December 26, 2016 00:02

sideroblastic anemia

Anemia associated with impaired synthesis or utilization of porphyrins (sideroahrestical, sideroblastic anemia) - a heterogeneous group of diseases, hereditary and acquired, is associated with impaired activity of enzymes involved in the synthesis of porphyrins and heme.The term "anemia sideroahrestical" introduced Heylmeyer (1957).When sideroahrestical anemia serum iron levels increased.In...

December 26, 2016 00:02

Hemolytic- uremic syndrome

Hemolytic-uremic syndrome - a varied etiology, but a similar clinical manifestations of symptoms manifested by hemolytic anemia, thrombocytopenia and acute renal failure. Hemolytic-uremic syndrome was first described as a distinct disease Gasser et al.in 1955, is characterized by a combination of microangiopathic hemolytic anemia, thrombocytopenia and acute renal failure in 45-60% of cases...

December 26, 2016 00:02

Symptomatic anemia

anemia development opportunities in a number of pathological conditions, it would seem unrelated to the hematopoietic system.Diagnostic difficulties tend to arise when the underlying disease is well known and prevalent syndrome is not anemic in the clinical picture.Meaning of symptomatic (secondary) anemia due to their relative frequency in pediatrics and possible resistance to therapy.The ...

December 20, 2016 00:04

Mitochondrial diseases caused by disturbance of pyruvate metabolism

Among the genetically determined pyruvic acid metabolism diseases isolated defects and pyruvate carboxylase pyruvate dehydrogenase complex.Most of these states, with the exception of E deficiency, the alpha component pyruvate dehydrogenase complex, have an autosomal recessive or linked recessive X-linked inheritance.The population frequency of disease has not been established. in the pat...

December 20, 2016 00:04

Mitochondrial diseases caused by defects in the oxidative phosphorylation

Mitochondrial diseases caused by defects in electron transport and oxidative phosphorylation Population frequency of this group of diseases is 1:10 000 live births, and diseases caused by defective mitochondrial DNA, approximately 1: 8000. reasons.Mitochondrial diseases caused by defects in electron transport and oxidative phosphorylation, different genetic heterogeneity, which is due to...

December 20, 2016 00:04

Mitochondrial diseases caused by disorders of the Krebs cycle

main representatives of this group of diseases are mainly related to the following deficiency of mitochondrial enzymes: fumarase and-keto-glutaratdegidrogenaznogo complex succinate dehydrogenase and aconitase. Mitochondrial diseases of this class have an autosomal recessive mode of inheritance.The frequency is not installed. The pathogenesis of the disorder is the functioning of the citri...

December 20, 2016 00:04

Mitochondrial diseases caused by disturbance of beta oxidation of fatty acids

study of mitochondrial disease caused by a violation of beta oxidation of fatty acids with different carbon chain length was started in 1976, when scientists first described in patients with deficiency of acyl-CoA dehydrogenase, medium chain fatty acids and glutaric acidemia type II.Currently, this group of diseases includes no less than 12 separate clinical entities, whose origin is associ...