Beginning >> Articles >> Archives >> Practical hematology of children's age

Hereditary deficit of factors of VII, X, V and II - Practical hematology of children's age

Table of contents
Practical hematology of children's age
Embryonal hemopoiesis
Morfofunktsionalny characteristic of cells of marrow and peripheral blood
Marrow parenchyma cells
Peripheral blood of children of different age
The system of a hemostasis is normal
Etiology and pathogeny of leukoses
Acute leukoses
Acute leukoses - a preleukosis
Possibilities of a predictive assessment of a course of an acute lymphoblastoid leukosis at children
General principles of treatment of an acute leukosis
Chemotherapeutic drugs
Treatment of an acute lymphoblastoid leukosis
Treatment of myeloid forms of an acute leukosis
Infectious complications and symptomatic therapy of an acute leukosis
Consolidation and maintenance therapy of an acute leukosis
Immunotherapy
Remission and recurrence of an acute leukosis
Inborn leukosis
Neuroleukosis
Myelosis
Lymphogranulomatosis
Gematosarkoma
Macrofollicular lymphoma
Angioimmunoblastny lymphadenopathy
Leukemoid tests
Infectious lymphocytosis
Infectious mononucleosis
Leukemoid tests of different types
Dysfunctions of granulocytes
Leukopenias
Histiocytoses
Histiocytoses - an eosinophilic granuloma
Malignant histiocytosis
Family erythrophagocytal histiocytosis
Accumulation diseases
Nimann's illness — Peak
Angiopathies
Hemorrhagic vasculitis (Shenleyn's illness — Genokh)
Mayokki's purpura
Ataxy teleangiectasia
Entsefalotrigeminalny angiomatosis
Kortiko-meningealny diffusion angiomatosis
Cerebroretinal angiomatosis
Hypertrophic gemangiektaziya
Multiple and huge hemangiomas
Elastic fibrodisplaziya
Coagulopathies
Hereditary coagulopathies
Hemophilia And
Clinic of hemophilia
Treatment of hemophilia
Angiohemophilia
Cristmas disease (Kristmas's illness)
Hereditary deficit of factors of XI, XII, XIII and I
Dysfibrinogenemias
Hereditary deficit of factors of VII, X, V and II
Deficit K-vitaminozavisimykh of factors of coagulation
Syndrome of the disseminated intravascular coagulation
Clinic and diagnosis of the IDCS
Treatment of the IDCS
Thrombocytopenia
Idiopathic Werlhof's disease
Clinic and diagnosis of an idiopathic Werlhof's disease
Treatment of an idiopathic Werlhof's disease
Isoimmune Werlhof's disease
Transimmune Werlhof's disease of newborns
Trombogemolitichesky Werlhof's disease (syndrome Moshkovich)
Hereditary Werlhof's diseases
Trobotsitopatiya
Anemias
The anemias connected with blood loss
Chronic posthemorrhagic anemia
Iron deficiency anemias
Clinic and diagnosis of an iron deficiency anemia
Treatment of iron deficiency anemias
Sideroakhrestichesky, sideroblastny anemias
Megaloblastny anemias
Foliyevodefitsitny anemia
Hereditary forms of megaloblastny anemias
Hereditary dizeritropoetichesky anemias
The anemias connected with oppression of proliferation of cells of marrow
Hereditary hypoplastic anemias
Hemolitic anemias
Hemolitic anemias - an ovalocytosis, a hereditary stomatocytosis
Acanthocytosis, piknotsitoz
The hereditary hemolitic anemias connected with disturbance of activity of enzymes of erythrocytes
The hereditary hemolitic anemias connected with disturbance of structure or synthesis of hemoglobin
The acquired immune hemolitic anemias
Isoimmune hemolitic anemias
Treatment of a hemolitic illness of newborns
Autoimmune hemolitic anemias
List of references

Hypoproconvertinemia.

The first description of this disease is made in 1951 by Alexander and coauthors. A hypoproconvertinemia — rather rare hereditary coagulopathy. It is inherited on autosomal incomplete recessive type. The heaviest clinical manifestations are noted at homozygous carriers of a pathological gene. Cases of the rare autosomal and dominant inherited forms are described. Weight of clinical manifestations is caused by the level of decrease in a factor VII. The expressed hemorrhagic syndrome is observed at activity of a factor less than 3%, usually at homozygous carriers. At moderately severe forms the level of a factor of VII is in limits of 3 — 5% and at easy forms — 5 — 10%. The disease proceeds latentno, without hemorrhagic manifestations at activity of a factor the VII higher than 10%.
Clinical signs can be noted in the period of a neonatality. Bleedings from an umbilical wound, mucous membranes are observed. At more advanced age the hemorrhagic syndrome which is characterized by skin, hypodermic, intramuscular hematomas, bleedings from mucous membranes, including a digestive tract can be expressed. Very seldom there can be hemarthrosis. Cases of a hereditary hypoproconvertinemia with death as a result of a hematencephalon (3 girls from one family) and because of plentiful bleedings (2 boys) are described. At easy forms of a disease hemorrhagic manifestations can arise only after injuries and surgical interventions or have moderate character in the form of nasal bleedings, skin ecchymomas.
Diagnosis of a hypoproconvertinemia is based on clinical data, the family anamnesis and laboratory researches. The factor of VII takes part only in the external mechanism of a blood coagulation therefore lengthening only of a prothrombin time on Kvika at normal indicators of all other coagulative tests characterizing the internal mechanism and a final stage of a blood coagulation is noted. Lengthening of a prothrombin time testifies to deficit of factors of a prothrombin complex. Final differentiation is carried out on the basis of correctional tests. It allows to establish a form of disturbance of a coagulative hemostasis easily. Differential diagnosis is carried out with the acquired K-gipovitaminozov forms.
In spite of the fact that the factor of VII is K-vitaminozavisimym, purpose of vitamin K at a hereditary hypoproconvertinemia does not give effect as does not eliminate genetically caused decrease in synthesis of a plasma factor. Pathogenetic replacement therapy is carried out. The drug PPSB is most effective. Replacement therapy can be carried out as well by donor plasma (native, dry, frozen) in which the factor of VII remains a long time. * The haemo static effect is noted at increase of a level of a factor more than 10% therefore administration of plasma or cryoprecipitate in a single dose of 10 — 15 PIECES/kg of weight (one activity unit of PPSB corresponds to 1 ml of plasma) is adequate. However the factor of VII circulates in blood short time, half-life is equal to 4 — 6 h. Therefore for maintenance of therapeutic concentration it is necessary to carry out transfusions at least 3 times a day. At treatment also apply nonspecific means — aminocapronic acid, synthetic contraceptive drugs, in particular at uterine bleedings.

Stewart's illness — Prauera.

Hereditary deficit of the X factor was for the first time recognizable by T. P. Telfer and coauthors (1956), and also S. Noiqei and coauthors (1957) in Prauer and Stewart's two families. In domestic and foreign literature there are not numerous descriptions of hemorrhagic diathesis owing to deficit of a factor of X. In our country such patients are described by 3. S. Barkagan and coauthors (1965), L. P. Papayan and coauthors (1976). The disease is inherited on autosomal incomplete recessive type. The heaviest hemorrhagic manifestations are noted at homozygous carriers of a pathological gene. There is an accurate compliance between a level of a factor of X and degree of a hemorrhagic syndrome. Strong bleeding is observed at a level of a factor of X within 0 — 2%, moderately severe — 2 — 5% and easy — at level 5 — 10%. At patients with the maintenance of a factor the X more than 10 % clinical signs of a disease are absent.
Severe forms can be shown already in the period of a neonatality and are characterized by the plentiful bleedings leading to a lethal outcome. F. Bachman and coauthors (1958) described the hemorrhage in the central nervous system at the baby which further was complicated by hydrocephaly and a blindness. At children of more advanced age the disease is characterized by the bleedings arising in connection with injuries after extraction of teeth, a tonsilectomy. Hemorrhages in skin, a hypodermic basis, muscles, sometimes in joints are observed (though a hemarthrosis is not characteristic). Also nasal, uterine, ludochno-intestinal bleedings, etc. are noted. Stewart's illness — Prauera is observed at persons of both sexes, however are most expressed at young girls.
Diagnosis of an illness of Stewart — Prauera, as well as other hereditary coagulopathies, is based on the basis of clinical signs, the family anamnesis and laboratory researches. Indicative tests are lengthening of a prothrombin time on Kvika at normal thrombin time. Also are broken a test kaolin-kefalinovye, etc. Complex disturbance of coagulative tests is caused by the fact that the factor of X takes part in a blood coagulation as on the external, and internal mechanism. The revealed disturbance of factors of a prothrombin complex is differentiated on the basis of correctional tests. The most difficult is deficit division VII and X factors. Tests with snake poison (Russell's viper or a gyurza) which eliminates coagulative disturbances at deficit of a factor of VII have crucial importance and, on the contrary, extends coagulation — at deficit of a factor of X. This test is useless at anomaly of a factor of the X Friuli. In these situations diagnosis is based on the tests characterizing the internal mechanism of formation of prothrombinase, violated at deficit of a factor of X and normal — at deficit of a factor of VII.
Replacement pathogenetic therapy by the same drugs and in the same doses is carried out, as at deficit of a factor of VII (PPSB, plasma). The factor the X longer time circulates in blood, half-life makes 2 — 3 days. Therefore for maintenance of therapeutic concentration haemo drugs enter once in 2 — 3 days. Also use nonspecific therapy — aminocapronic acid, synthetic contraceptives. Apply an absorbable gelatin sponge, thrombin, an irrigation of wound surfaces to a local stop of bleeding solution of aminocapronic acid. Purpose of drugs of vitamin K as well as at a hypoproconvertinemia, does not give effect.

Parahemophilia.

The disease is for the first time recognizable in 1947 by P. A. Owren. Parahemophilia — rare pathology from group of hereditary coagulopathies. It is inherited on type incomplete autosomal recessively. Forms with an autosomal and dominant mode of inheritance are also described. The hemorrhagic syndrome is most of all expressed at homozygous carriers of an abnormal gene. Degree of bleeding is caused by the level of decrease in a factor of V. At severe forms of parahemophilia the level of a factor of V is lower than 2%, at moderately severe — within 2 — 6% and at an easy current — 6 — 15%. Bleeding is absent at a level of a factor V higher than 21 — 25%. The disease can demonstrate at babies spontaneous bleedings, but more often the first signs are noted at the age of 2 — 3. There are nasal bleedings, easily there are bruises. Long bleedings are noted at injuries, small surgical interventions. Menorrhagias at girls during puberty are especially dangerous. Heavy bleedings from mucous membranes of a digestive tract, a hematencephalon are described. Expressiveness of a hemorrhagic syndrome varies in one family, up to
to lack of clinical symptoms at heterozygous carriers of an abnormal gene.
Unlike hemophilia, for parahemophilia a hemarthrosis and formation of hematomas are uncharacteristic.
Diagnosis of parahemophilia is based on characteristic laboratory changes. The factor of V takes part in a blood coagulation both on internal, and on the external mechanism. Therefore at normal thrombin time the prothrombin time is extended. Also indicators of the partial tromboplastinovy test, etc. are broken. Differential diagnosis among factors of a prothrombin complex is carried out on the basis of correctional tests or by quantitative definition of a factor of V.
Replacement pathogenetic therapy is carried out. The factor of V very much labilen and badly remains in blood and plasma. It is also absent in cryoprecipitate. These haemo drugs at treatment of parahemophilia are not effective. Transfusion therapy is carried out by freshly frozen or anti-hemophilic plasma. Half-life of a factor of V makes 12 — 16 h. For achievement and maintenance of necessary therapeutic concentration (20 — 25%) plasma is entered struyno in a single dose of 10 — 15 ml/kg of body weight in 8 — 12 h. Preoperative preparation is begun in 2 — 3 days. Also use aminocapronic acid. At menorrhagias appoint synthetic contraceptive drugs.

Prothrombinopenia.

Hereditary deficit of a factor of II is for the first time described by S. Greveld in 1954. The prothrombinopenia — extremely rare pathology, is inherited on autosomal recessively type. At heterozygous carriers of an abnormal gene clinical symptoms of a disease are absent. The expressed hemorrhagic manifestations develop at a level of a factor the II lower than 5%. The hemorrhagic syndrome of easy degree is noted also at level 15 — 20%. At heterozygous carriers the level of a prothrombin exceeds 40%.
Clinical symptoms arise after the birth. Bleeding from an umbilical wound is noted. The further course of a disease is characterized by bleedings of various localization — from mucous membranes of oral and nasal cavities, a digestive tract. Long bleedings at surgical interventions, injuries, cuts are observed, after extraction of teeth. At a level of a factor the II lower than a % are frequent spontaneous hemorrhages. At girls during puberty heavy menorrhagias are noted. At a prothrombinopenia sometimes there is hemarthrosis. Bleedings can be very long and proceed from several hours to 7 — 10 days and more. The most terrible complication — the hematencephalon leading to death.

Approximate laboratory test is lengthening of a prothrombin time on Kvika at normal thrombin time. Differential diagnosis is carried out by means of correctional tests.
Replacement transfusion therapy is carried out. The most effective haemo drug is PPSB which is used in preoperative preparation. Therapeutic correction can be carried out by transfusions of native and freshly frozen plasma. Haemo drugs enter in a single dose 10 — 15 ml (PIECE)/kg of body weight once in 2 — 4 days. In therapy use aminocapronic acid and synthetic contraceptives.

The acquired disturbances of a coagulative hemostasis

Secondary disturbances of a coagulative hemostasis complicate the course of many diseases and quite often on the weight block the main pathology. The acquired coagulopathies integrate big and diverse group of diseases. Unlike hereditary of the acquired forms multicomponent defect of coagulation is the cornerstone of a coagulopathy not isolated, and. And quite often there is not only a disturbance of coagulative, but also vascular and platelet links of a hemostasis. Some acquired koagulopatichesky syndromes seldom meet in pediatric practice. In this section we will stop on two of them — deficit K-vitaminozavisimykh of factors and a syndrome of DVS as the most often meeting at children's age.



 
"Workshop on nervous diseases and neurosurgery   Practical training on pharmaceutical technology of drugs"