HERZhMANSKOGO — PUDLAKA BO-LYoZN (F. Hermansky, 1916 — 1980, the Czech therapist; P. Pudlak, sovr. the Czech therapist) — the hereditary disease which is characterized by disturbance of structure and function of thrombocytes, and also albinism (as a rule, skin and an eye) and adjournment of a tseroidopodobny pigment in marrow. X. — Item. treats group of trombotsitopatiya (see).
The disease is described by F. Herzhmansky and Pudlak in 1959.
Pathology of thrombocytes, and also megacaryocytes is caused by absence or sharp reduction of contents in them dense (osmophilic nonprotein) granules that leads to disturbance of aggregation of thrombocytes and formation of cellular blood clots in the damaged blood vessels, to development of the raised bleeding — to petechias, bruises, bleedings, at the same time the bleeding time (see) is, as a rule, extended whereas a blood clotting time (see) and results of other coagulative tests are normal (see Koagulogramm).
X. — Item. it is inherited on autosomal recessively type. Coupling of dysfunction of thrombocytes with disturbances of pigmental exchange incomplete therefore in the same families patients are observed, at to-rykh dysfunction of thrombocytes is combined with full or incomplete albinism (see), and also with a normal xanthopathy. On the other hand, at a number of family members albinism without bleeding can be observed. Owing to albinism at patients easily arise solar ozhogig the photophobia, a day blindness, sometimes gripes in eyes, lachrymation are observed.
In some cases X. — Item. it is combined with deficit of a factor of Villebrand (see the Angiogemophilia), and also with mesenchymal displaziya — disturbance of skeleton structure, the increased distensibility of sheaves (frequent dislocations, hypermotility of joints), a hyperelastosis of skin (extensible, or «rubber» skin), and also with a leukopenia (see) and: a splenomegaly (see).
The diagnosis the wedge, pictures and data establish on the basis of the anamnesis, a lab. researches of morphology and function of thrombocytes (e.g., detection of the lowered contents in thrombocytes of nonprotein dense granules and accumulation of ADF, serotonin, adrenaline; disturbances of aggregation of thrombocytes).
Differential diagnosis carry out with others a thrombocyte, oops-tiyami (see), first of all with forms, at to-rykh it is also broken - storage of dense granules, napr, a disease of gray thrombocytes, at a cut albinism is not observed, and in thrombocytes contents and - granules therefore in the course of aggregation of thrombocytes from them proteinaceous components — a factor of thrombocytes 4, thromboglobulin, growth a factor do not cosecrete (see Thrombocytes) is reduced. X. — Item. differentiate also with Chediak's disease — Higasi which is characterized by incomplete albinism, a leukopenia, a granulocytopenia, predisposition to infections, disturbance of a chemotaxis of leukocytes and existence in cells of a granulotsitarny number of the huge atypical azurophilic granules relating to lysosomes, a wavy current with deep neytropenichesky crises.
Treatment of X. — The item B. is carried out only at the expressed bleeding and threat of development of postoperative hemorrhages. At the same time apply moderate doses aminocaproic to - you, or Ambenum, synthetic hormonal contraceptive drugs (mestranol, Microfollinum, etc.), Dicynonum, Adroxonum. Considerable bleedings are sometimes stopped by cryoprecipitate (see Blood, blood preparations), transfusions of trombotsitny weight (see).
Bibliography: B and r to and and N 3. C. Hemorrhagic diseases and syndromes, M., 1980; III and t and to about in and A. S. Classification of functional disturbances of thrombocytes, Probl. gematol. and modulation, blood, t. 26, No. 3, page 49, 1981; F u to and -
ml M. H. a. S and 1 g a n i with about f f L. Human platelet storage organelles, Throm-bos. Haemostas., v. 38, p. 963, 1977; Hermansky F. Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow, Blood, v. 14, p. 162, 1959; Mackie I. o. Hermansky — Pudlak syndrome and factor VIII ristocetin cofactor, Brit. J. Haemat., v. 41, p. 449, 1979; Pham of Scientific Research Institute T., Bu-riot D. et Griscelli C. Phago-cytose des plaquettes autologues par les granulocytes dans la maladie de Chediak — Higashi, Nouv. Rev. franQ. Hemat., t. 22, p. 59, 1980; Rendu F. a. o. Evidence that dense bodies are involved in the alpha-granule liberation from normal and Hermansky — Pudlak syndrome platelets, Thrombos. Haemostas., v. 50,
No. 1, p. 213, 1983. 3. S. Barkagan.