Congenital thrombocytopathy (platelet factor 3 defect) with prolonged bleeding time but normal platelet adhesiveness and aggregation.
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The authors have examined 8 cases with Hermansky-Pudlak syndrome in whom besides the usual abnormalities of abnormal aggregation with collagen, absence of second wave of aggregation, reduction of the 5-HT uptake, presence of 5-HIAA in the platelets, two new abnormalities are described: the presence of a large amount of an unidentified metabolite after 5-HT incorporation which differs from 5-HT and 5 hydroxytryptophol and an abnormal incorporation of labelled glycerol in the triglycerides. Correlation between abnormal lipid metabolism and defective 5-HT incorporation is discussed.
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Examinations of 407 patients with angiological disorders of the fundus oculi (diabetic retinopathy, retinal vein thrombosis, central chorioretinal dystrophy, retinal angiitis) revealed relapsing hemorrhagic syndrome in 40% (170) patients. No thrombocytopenia was revealed in any of the patients, which suggests qualitative impairment of platelets in such patients. Evaluation of the platelet aggregation coefficient (PAC) using thrombin aggregation inducers and adenosine diphosphate disodium revealed a statistically significant decrease of PAC for one or both aggregants in all 170 patients with the hemorrhagic syndrome, which indicated platelet dysfunction. A course of intramuscular injections of 1% adenosine triphosphate sodium normalized platelet function and stimulated resorption of hemorrhages.
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The paper reports, starting from recent data in the literature, an important aspect in a pediatric practice, referring to the congenital qualitative platelet disorders. The authors present a modern classification of platelet disorders, based on functional and biochemical defects: defects of adhesion, of primary aggregation, abnormalities of secretion and procoagulant activity. It is discussed the pathogeny, clinical aspects and laboratory tests of each disease. The authors also present some entities recently individualised an the basis of the most topical literature data and the treatment means used, the evolution and prognosis.
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