The partial krasnokletochny aplasia is characterized by sharp suppression of products of erythrocytes isolated by normokhromny anemia and a deep reticulocytopenia.
Epidemiology The partial krasnokletochny aplasia belongs to rare diseases (about 300 such patients are described now), occurs at persons of various age, is more often at elderly people.
Etiology and pathogeny The etiology of a partial krasnokletochny aplasia in most cases remains unspecified, at a number of patients developing of an illness can be connected using various medicamentous drugs of miyelodepressivny action. It is suggested about immune genesis of a disease (in plasma find the antibodies which are relating to IgG, fixed on a kernel of normoblasts and erythroblasts and having cytotoxic effect on these cells in part of patients). Some patients at plasma have the erythropoetin inhibitor representing antibodies to erythropoetin, relating also to IgG.
Mechanisms of development of a partial krasnokletochny aplasia as the syndrome accompanying other diseases remain not clear. There are only messages on identification in plasma of the antibodies sick with a thymoma possessing strictly specific action against nuclear antigen of erythroblasts.
Classification Allocate an inborn form (a syndrome of Blackfan — Diamond) and the acquired form of a partial krasnokletochny aplasia. The last is observed in the form of the acquired primary eritroblastoftiz (APE) and a syndrome at other diseases (drepanocytic anemia, an inborn spherocytosis, pneumonia, parotitis, an infectious mononucleosis, a thymoma, ulcer colitis, leukoses, hepatitis, a septic endocarditis, a system lupus erythematosus, a lymphogranulomatosis, a lung cancer, a chronic renal failure, etc.).
Approximate formulation of the diagnosis: Partial krasnokletochny aplasia with the expressed normokhromny anemia, a reticulocytopenia, reduction of an erythrogenesis in marrow.
Clinic As well as at other types of anemia, the complaint of patients are reduced to increased fatigue, the progressing weakness, heartbeat, an asthma at insignificant exercise stresses. Pallor of integuments and visible mucous attracts attention; on a top of heart systolic noise, a liver is listened, a spleen are not increased, the hemorrhagic syndrome usually is absent.
Main hematologic displays of a disease: reduction of quantity eritro-and normoblasts in marrow punctates often at relative safety of other sprouts of a hemopoiesis and its general cellularity, deep refractory normokhromny anemia, a reticulocytopenia; the number of leukocytes, thrombocytes within norm or is lowered, the leukocytic formula normal or comes to light its shift to myelocytes to the left.
Cases meet increase in quantity eritro-and normoblasts in marrow though in connection with an inefficient eritropoee the maintenance of erythrocytes and reticulocytes in peripheral blood is reduced.
At a marrow trepanobiopsiya the hypoplasia usually does not come to light. Content of iron in bodies and blood serum is increased. Direct test of Koombs, as a rule, negative. However, use the unit-gemagglyutinatsionnoy of test allows to reveal antibodies on a surface of the erythrocytes in most cases belonging to the class IgA or to IgG or to a combination of IgA and IgG.
Rather accurate description of a clinical picture of a partial krasnokletochny aplasia as syndrome at other diseases is not available yet. Most of all data on features of its current at patients with a thymoma. Along with refractory anemia, a reticulocytopenia, an eritroblastopeniya the myasthenic syndrome (a diplopia, muscular weakness, difficulty of swallowing and chewing, twang of a voice) is noted; the syndrome of a mediastinal compression (short wind, cyanosis, hypostasis of area of a neck, breast, swelling of jugular veins) can be expressed. The X-ray analysis and a tomography of bodies of a thorax reveal blackout of a front mediastinum. Content of serumal iron is increased. The electrophoresis of proteins finds increase in fraction at - globulins, an immunoelectrophoresis — increase of the IgA and IgG level.
The inborn form of a partial krasnokletochny aplasia occurs only at children of early age (from 1 month to 1 year), is frequent at premature. Miyelogramma is characterized by an aplasia of an erythroblast sprout, in a gemogramma — anemia, a reticulocytopenia.
Verification of the diagnosis At a partial krasnokletochny aplasia careful inspection of the patient is necessary for an exception of neoplastic process. Primary partial krasnokletochny aplasia proceeding with safe quantity of cells of an erythrogenesis should be differentiated with sideroblastny anemia. Increase in a spleen, unsharply expressed leukopenia, sometimes with a monocytosis in peripheral blood and band shift, normal quantity of reticulocytes, detection of the granules of iron surrounding a normoblast kernel — the signs characteristic of sideroblastny anemia. At a number of the patients who are observed concerning reduction of an erythrogenesis in marrow development of an acute leukosis is noted further (till 3 flyings). However in such cases timely correct diagnosis at early stages of an illness is still difficult.
Treatment The main method of treatment of a partial krasnokletochny aplasia is transfusion of eritrotsitny weight. In certain cases favorable results are achieved when using a plasma exchange, corticosteroid and anabolic hormones, immunodepressive means (Cyclophosphanum, 6 Mercaptopurinum, etc.). If the applied means are inefficient, it is necessary to resort to a splenectomy.
At an inborn form of a partial krasnokletochny aplasia systematic transfusions of eritrotsitny weight promote that children live to 8 — 15-year age then at part of them there come spontaneous improvement and need for a hematotherapy disappears if improvement does not arise, the illness gets further the same current, as well as from adults. At development of a partial krasnokletochny aplasia against a thymoma use radiation or its operational removal.