DIZERITROPOETICHESKY ANEMIA

From Big Medical Encyclopedia

DIZERITROPOETICHESKY ANEMIA (Greek dys-+ late lat. erythro[cyto]poiesis formation of erythrocytes; anemia) — the term for designation of the diseases which are characterized by high-quality disturbance of an erythrogenesis therefore a considerable part of yadrosoderzhashchy cells of a red row perishes in marrow, and mature erythrocytes are formed in insufficient quantity (an inefficient erythrogenesis). And. meets seldom. Distinguish primary (inborn) and secondary (acquired) D. and.

History

In 1951 Wolff and Hoffa (J. A. Wolff, F. H. Hofe) 4 patients (mother and 3 children) with moderate anemia, jaundice and existence in punctate of marrow of a large number of multinuclear erythroblasts described. Similar states regarded further as manifestations of a dizeritropoez (an inefficient erythrogenesis). Heympel and Vendt (H. Heimpel, F. Wendt, 1968) combined the described diseases in inborn D.' group and. also suggested to distinguish 3 their types. Only several tens of inborn D. are described and. [Lewis and Fervilgen (S. M of Lewis, R. L. Verwilghen), 1973].

Etiology and pathogeny

Primary D. and. — the inborn disease inherited on autosomal recessively type.

Kveysser's data (W. Queisser, 1971) with sotr. on studying of synthesis of DNA by means of marked thymidine and a submicroscopy confirm disturbance of process at it mitosis (see) and structures of a cover of erythroblasts. The reason of these disturbances is not established. Pathology of a mitosis concerns generally basphilic erythroblasts: the multihead elements which are not growing ripe, despite a gemoglobinization of cytoplasm, to a nuclear-free erythrocyte and perishing in marrow are formed. It is confirmed by researches of a ferrokinetika with 59 Fe: the accelerated clearance of isotope from plasma (T 50 < 40 min.), insufficient inclusion of isotope in erythrocytes (25 — 50%) and preferential accumulation of radioactive iron in marrow. The accelerated death of erythroblasts is followed by increase in level of not conjugated (indirect) bilirubin, some enzymes (zymohexase, a lactate dehydrogenase).

Secondary D. and. can accompany various diseases. At B 12 - (foliyevo) scarce states (see. Pernicious anemia ) dizeritropoez it is caused by disturbance of synthesis of nuclear DNA; at iron deficiency anemia (see), sideroblastichesky anemia (see. Zhelezorefrakternaya anemia ), thalassemias (see), infectious diseases — disturbance of synthesis gem or a globin; at hypoplastic anemia (see), some types hemolitic anemia (see) — Minkowski's diseases — Shoffara, a paroxysmal night haemoglobinuria, autoimmune hemolitic anemia, leukoses (see) the reasons of a dizeritropoez are unknown.

Pathoanatomical changes and clinical picture

Primary D. and. comes to light usually at children's or youthful age, proceeds chronically, with moderate anemia, hyperbilirubinemia (cm), and splenomegaly (see), sometimes increase in a liver. It is possible hemochromatosis (see) with development of diabetes. In blood number of leukocytes and thrombocytes normal, the reticulocytosis small also does not correspond to depth of anemia. Are noted diverse morfol. changes of erythrocytes (anizo-and poikilocytosis, sometimes macrocytosis, basphilic mottling, fragmentation). Anomaly of erythrocytes is shown by the increased lysis by serums anti-1 (cold-reactive antibodies) without strengthening of their komplementchuvstvitelnost; serological all population of erythrocytes looks homogeneous, without being divided on normal and patol, clones. The amount of serumal iron normal or is increased, especially at a hemosiderosis. Level of bilirubin (indirect) is increased changeably and unsharply. Life expectancy of erythrocytes (according to a research with 51 Cr) is a little shortened, there is their partial sequestration in a spleen.

Constants rough morfol, disturbances of a marrowy erythrogenesis — an asynchronism of maturing of a kernel and cytoplasm, change of size, a form and structure of kernels, multinucleosis, sometimes with existence of internuclear chromatinic bridges, a karyorrhexis, fragmentation and pycnosis of kernels, vacuolation and basphilic stippling of cytoplasm, excess adjournment of iron in mitochondrions and lysosomes, existence of the phagocytes containing erythrocytes, erythroblasts or crystal products of their degradation are characteristic (cells, similar to cells to Gosha).

On the basis of dominance of these or those morfol, changes of marrow Heympel and Vendt allocated 3 types D. and.: type I — megaloblastoid forms, a macrocytosis, internuclear chromatinic bridges; type II (most frequent) — two-and multinucleosis of erythroblasts, multipole mitoses, a karyorrhexis; type III — multinucleosis, gigantoblasts, a macrocytosis. Besides, for sick D.' erythrocytes and. The II type the positive acid test (the changed erythrocytes collapse) with use of serums of healthy faces is characteristic.

Existence transitional and typiforms of D. is possible and. Be rude (M. to A. Hruby, 1973) and others described D.'s cases of ampere-second by excess synthesis of a-chains of a globin, but, unlike a beta talassemia (see. Thalassemia ), normal synthesis of beta chains and lack of a hypochromia of erythrocytes.

Distinctions between I and II types D. and. it is possible to establish also at electronic microscopic examination. At D. and. The I type pathology comes to light from a stage of a polychromatophilous erythroblast. Along with two-head elements all stages of incomplete division of kernels come to light. Narrow internuclear bridges consist or of threads of chromatin, or of bunches of microtubules (the remains of a mitotic spindle). The cover of kernels of some cells loses the continuity, cytoplasm invaginates in a gleam of kernels. Pathology of cytoplasm is shown by an overload of a part of mitochondrions iron, existence of various inclusions — myelin little bodies, scraps of a membrane, vacuoles, micro tubules. Mature erythrocytes have a normal appearance. For D. and. The II type along with above-mentioned anomalies existence in erythroblasts and erythrocytes of the additional line structure which is located parallel to a cellular membrane on 40 — 60 nanometers of a knutra from it is characteristic. Being, apparently, to derivatives of an endoplasmic reticulum, this education testifies to pathology of a membrane of cells. At D. and. The III type the ultrastructure of cells is not studied.

Secondary D.'s clinic and. in the main manifestations it is similar to a clinical picture of primary D. and.

Primary D.'s diagnosis and. is based on studying of the family anamnesis, detection of signs of an inefficient erythrogenesis, morfol. changes of erythroblasts. It is necessary to differentiate it from diseases which can be followed by a symptomatic dizeritropoez.

So, at hemolitic anemia more expressed reticulocytosis and the hyperbilirubinemia characteristic morfol, or serol, shifts are observed (a microspherocytosis of erythrocytes, positive test of Koombs, etc.).

Unlike D. and., at a paroxysmal night haemoglobinuria positive saccharose test, a komplementchuvstvitelnost of erythrocytes, positive takes of the acid test with all normal serums is noted, two populations of erythrocytes, a haemoglobinaemia, hemoglobin - and a gemosiderinuriya come to light. At hypoplastic anemia, unlike D. and., find a pancytopenia, poor punctate of marrow, delay of clearance 59 Fe from plasma, preferential accumulation of isotope in a liver; normal marrowy punctate is characteristic of a functional hyperbilirubinemia (Gilbert's cholemia, etc.). Unlike a disease to Gosha (see. to Gosha disease ), huge phagocytes at D. and. contain not glucocerebroside, and glycoproteins and glyco-peptides.

Treatment

At heavy anemia hemotransfusions are shown. The splenectomy, corticosteroid hormones are inefficient.

Forecast

Full treatment of primary D. and. it is impossible, but at the long not progressing current of the patient keeps working capacity.

At secondary D. and. the forecast substantially depends on a basic disease.


Bibliography: Alekseev G. A. The acquired dizeritropoetichesky anemias as preleykozny states, Probl, gematol, and a modulation, blood, No. 8, page 3, 1975; With 1 and and-vel J. River and. lake of Dyserythropoiesecongenitale, Nouv. Rev. frang. Hemat., t. 12, p. 653, 1972; H e i m p e 1 H. a. W e n d t P. Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythro-blasts, Helv. med. Acta, v. 34, p. 103, 1968; H r u b at M. A., Mason R. G. a. H o-n i g G. R. Unbalanced globin chain synthesis in congenital dyserythropoietic anemia, Blood, v. 42, p. 843, 1973, bibliogr.; Lewis S. M. a. Verwi Ighen R. L. Dyserythropoiesis and dyserythropoietic anemias, in book: Progr. Hemat., ed. by E. B. Brown, v. 8, p. 99, N. Y. — L., 1973, bibliogr.; Queisser W. o. Proliferation disturbances of erythroblasts in congenital dyserythropoietic anemia type I and II, Acta haemat. (Basel), v. 45, p. 65, 1971.

Yu. I. Loriye.

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