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Nimann's illness — Peak - 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

The disease is for the first time described by R. Niemann in 1914 and in more detail L. Pick in 1922. Meets less than an illness to Gosha. Deficit of enzyme of the sfingomiyelinidaza which is taking part in a catabolism of sphingolipids is the cornerstone of a pathogeny. At patients with an infantile form of a disease activity of enzymes almost completely is absent, making — that healthy people have 7%. At other forms of an illness of Nimann — Peak activity of enzyme is slightly higher. Enzymatic defect leads to adjournment of sphingomyelin in various fabrics and bodies — a spleen, a liver, lymph nodes, marrow, bone system, muscles, a nervous system, lungs, endocrine glands. Pathological substrate of a disease is provided by macrophagic elements — Nimann's cells — Peak. These are specific cells, but can meet also at some other diseases of accumulation. Nimann's cells — Peak it is slightly less, than cells to Gosha, 20 — 25 microns, but can reach also the big sizes — to 50 microns. They have the wrong rounded oval configuration with a small dense kernel, nukleola in a kernel are not found. Binuclear cells meet. When coloring across Romanovsky cytoplasm has characteristic cellular foamy structure. Spumescence of cytoplasm are an artifact. When fixing dissolution of zhiropodobny substances and education in cytoplasm of vacuoles happens methyl alcohol. Cellular intervals are painted in bluish color. At elektronnomikroskopichesky research in cytoplasm granules with concentrically layered structure, education by molecules of sphingolipids are visible. The Fazovokontrastny microscopy reveals numerous grains with double refraction. Nimann's cells — Peak have the certain cytochemical characteristic other than cells to Gosha. They give diffusion reaction with Sudan to black B on lipids, high activity and-naftilatsetat esterases and weak CHIC reaction. The expressed histologic changes are observed in a spleen, a liver, lymph nodes. On surfaces of a cut the maculas lutea formed by Nimann's cells — Peak are visible. Lungs, adrenal glands have spotty drawing. Nimann's illness — Peak — hereditary pathology, family cases are described. A mode of inheritance — autosomal and recessive.
The clinical picture of a disease is various both on time of emergence of the first symptoms, and on weight of a current. On the basis of it allocate several forms of an illness of Nimann — Peak. Type A — a classical infantile form. Type B — a late form with dominance of visceral pathology. Type C — a youthful form with slowly progressing neurologic disturbances. Now rare forms are described: type D and type E.
Most often the classical infantile form making more than 80% of all cases of an illness of Nimann — Peak is registered. Children are born externally healthy and the neonatality period, as a rule, proceeds normally. Then appetite loss is noted, patients badly gather in weight, dystrophy gradually accrues. Psychomotor development is late, the child ceases to fix a look, to watch objects, to react to surrounding. The behavior is atypical, the eye is turned in a ceiling, the person reminds patients with a Down syndrome — the open mouth which is put out tongue. At survey the child gipotrofichen. The moderate generalized hyperadenosis, significant increase in a liver and a seleznka are noted. Bodies are dense, painless. The neurologic status is characterized by development of spastic paresis and paralyzes, the movements are complicated, are not coordinate, tendon jerks are kept. Later the hypomyotonia develops, tendon jerks decrease. Children sharply lag behind in physical and psychological development, deafness, a blindness develop. At oftalmoskopichesky research find an atrophy of nipples of optic nerves and a cerise speck in macular area of an eyeground (a symptom of "a cherry stone"). Skin color changes, it has a yellowy-brown shade. At children the susceptibility to infections raises, bronchopulmonary diseases, purulent otitis are frequent. In blood — quite often the leukopenia caused by the hypersplenism phenomena. At development of consecutive infections the number of leukocytes can be normal or raised. Hypochromia anemia of scarce character. Quantity of thrombocytes usually normal. The infantile form of an illness of Nimann — Peak quickly progresses, ascites, a pulmonary heart develops in the terminal period. The forecast of a disease adverse, does not exceed longevity 1 — 2 years.
At type During a disease long. The first symptoms arise at advanced age. The neurologic symptomatology is absent, children are intellectually full-fledged. The leading clinical syndrome is the gepatosplenomegaliya, endocrine disturbances are possible. It is caused by preferential adjournment of sphingomyelin in a spleen, a liver, closed glands. In peripheral blood — the moderate leukopenia, is possible thrombocytopenia. The disease progresses slowly, however has a fatal outcome. Children can live up to adult age.
The type From Nimann's illness — Peak, is characterized by mainly neurologic symptomatology. Arises at children of advanced age. Spastic paresis, attacks of spasms, cerebellar symptoms, disorders of gait, coordination of movements, etc. are noted. The liver and a spleen are increased moderately. In blood — slight anemia. Symptoms progress slowly, but the disease has a lethal outcome at emergence of heavy neurologic disturbances.
Differential diagnosis of an illness of Nimann — Peak is carried out with an illness to Gosha, an illness Thea — Saks, other diseases of accumulation, cirrhosis. Diagnosis is based on a clinical symptom complex and identification of cells of Nimann — Peak in punctates of marrow and spleen. It should be noted that detection of cells in marrow — not a so obligatory find, spleen punctate is more informative in this respect. Considering that the macrophagic elements similar to Nimann's cells — Peak, meet also at other diseases and are caused by enzymatic defects of a lipometabolism, biochemical researches have diagnostic value. For a disease the expressed decrease of the activity of a sfingomiyelinidaza in leukocytes of peripheral blood, culture of skin fibroblasts, biopsy material is pathognomonic. Now prenatal diagnosis of a zaboleraniye at research of culture of the skin fibroblasts received by a transabdominal amniotsentez is achievable. At blood serum research the level of lipids and cholesterol corresponds to the upper bounds of norm or is moderately increased. The ratio of fractions of phospholipids almost normal, sphingomyelin or slightly increases, or is not raised.
There is no specific therapy of an illness of Nimann — Peak. Apply hormonal therapy by corticosteroids, drugs of a thyroid gland; complex of vitamins; the fermental drugs improving a liver trophicity — lipocainum, methionine, liver extracts; the medicinal substances improving a trophicity of a nervous system. Korregirut a diet with replacement of fats of animal origin by vegetable.
Some enzymopathies have a similar clinical picture with diseases to Gosha and Nimanna — Peak that needs to be considered at differential diagnosis.
In 1962 O. Servis and A. Rosenberg described a syndrome at which increase in a spleen and liver, various neurologic symptomatology is noted. The disease is inherited on autosomal recessively type. Disturbance of a lipidic exchange is noted. It is established that in a spleen pathological material — tseramidlaktozid collects. This form of a disease received the name of a laktozidlipidoz. At the same time there is an enzymatic defect in splitting of a tseramidlaktozid caused by tseramidlaktozid-R-galaktozidazy enzyme decrease of the activity. In marrow cells meet foamy cytoplasm.
In peripheral blood there are lymphocytes containing vacuoles and inclusions. Forecast of a disease adverse.
Krabbe's illness (spherical leukodystrophy) meets seldom, is inherited on autosomal recessively type. Deficit of the enzyme of the R-galactosidase participating in a metabolism of a galaktotserebrozid is the cornerstone of a disease. There is an accumulation of pathological substrate in many bodies and fabrics — a spleen, a liver, bone system, marrow, a nervous system, leukocytes. Course of a disease acute, malignant, similar to an infantile form of an illness to Gosha. The disease is shown at children of the first months of life. Body weight decreases, the growth inhibition is noted. The neurologic status is characterized by a muscular hypertension, a hyperreflexia, emergence of pathological pyramidal signs. In the subsequent hypotonia, disturbance of the act of swallowing develops. Lag in mentality is noticeable, children are apathetic, do not react to surrounding. The liver and a spleen are increased. Neurologic frustration quickly progress, leading to development of a blindness and deafness. In marrow and peripheral blood the lymphocytes containing inclusions meet. Forecast of a disease adverse. The lethal outcome in most cases comes within a year.
In 1925 G. Sholtz described the disease known as a metachromatic leukodystrophy (Sholts's illness), children's sulfatidoz which is included in group of lipidoses. Deficit of enzyme of the arylsulphatase A participating in hydrolysis of sulfatides is the cornerstone of a pathogeny. In an organism metachromatic substances — sulfatides collect (galaktotserebrosulfatid). The nervous system, and also parenchymatous cells of a liver, kidneys, spleens are surprised. The disease is transmitted on autosomal recessively type. Illness symptoms find in children at the age of 2 — 3 more often. In a clinical picture defeat of a nervous system prevails. There comes intellectual degradation, children lose speech and motor skills, sight and hearing progressively decrease. The neurologic status is characterized by spastic tetraparesis. Defeat of cardiovascular system, a gepatosplenomegaliya are observed. In blood and marrow find the leukocytes containing characteristic metachromatic inclusions. Similar metachromatic granules define in an urocheras. Results of biochemical research of urine and a blood plasma demonstrate arylsulphatase A decrease of the activity. The forecast is adverse. The death occurs at the phenomena of a full decortication in 2 — 3 from the beginning of a disease. The most malignant current is noted at children of the first year of life.
Hematologic changes are noted at a number of the diseases united in group of mukolipidoz. As a result of enzymatic defects in an organism acid mucopolysaccharides, sphingolipids, glycolipids — in internals and fabrics, cells of marrow and peripheral blood collect. Allocate such mukolipidoza: mukolipidoz I, II, III and IV, Gmi-gangliozidoz I, II, III and IV types, mannozidoz, fukozidoz, sulfatidoz.
Mukolipidoz I of type is inherited on an autosomal recessive character. Pathogenetic mechanisms are not clear. In a liver activity of a number of lizosomalny enzymes increases, in fabrics mucopolysaccharides and glycolipids collect. Clinically the disease is shown in the first years of life. The delay of mental and physical development is expressed in moderate degree. The gepatosplenomegaliya, a symptom of "a cherry stone" on an eyeground, bone disturbances are changeable. Neurologic disturbances are possible. In marrow cells meet foamy cytoplasm and inclusions. Peripheral blood lymphocytes contain granules and vacuoles.
Mukolipidoz II of type is inherited on an autosomal recessive character. Assume deficit of lysosomic hydrolases therefore there is an accumulation of mucopolysaccharides and lipids. Signs of mental retardation, a delay in physical development, a moderate hepatomegalia are clinically noted. Existence in skin fibroblasts of the round inclusions around a kernel identified as mucopolysaccharides and lipids is characteristic. Such cells received the name 1 of cells. Multiple inclusions are also noted in lymphocytes of marrow and peripheral blood.
Mukolipidoz III of type — an autosomal and recessive disease with the obscure pathogeny. The clinical picture is characterized by preferential defeat of the device of the movement and a support, in particular a backbone, femoral haunch bones. In marrow find the cells containing in cytoplasm of a vacuole and large reddish granules as a result of accumulation of acid mucopolysaccharides and glycolipids. In peripheral blood lymphocytes there are no changes.
Mukolipidoz IV of type — the low-studied disease, is inherited on an autosomal recessive character. At children the delay of psychomotor development, the progressing decrease in sight are noted. In marrow reveal vacuolated foamy cells with lipidic inclusions.
Mannozidoz (Okkerman's illness). The mode of inheritance is not established. Deficit of enzyme and-mannozidazy, leading to intracellular accumulation of the mucopolysaccharides rich with maynozy is the cornerstone of a disease. The first clinical signs appear in the period of a neonatality. Children lag behind in psychomotor development, badly gather in weight, are inclined to catarrhal diseases. Reveal a gepatosplenomegaliya, a hypomyotonia, increase of tendon jerks. A year later from the beginning of a disease there are symptoms of damage of a bone tissue. At research of peripheral blood find lymphocytes with the vacuolated cytoplasm containing CHIC-positive inclusions.
Fukozidoz is inherited on autosomal recessively type. Lack of lysosomic enzyme is noted and-fukozidazy. In fabrics there is an accumulation of fukozsoderzhashchy glycolipids and acid mucopolysaccharides. The clinical picture is characterized by neurologic disturbances, defeat of the bone system moderated by a hepatomegalia. In marrow there are cells with foamy cytoplasm. Vakuolizirovana peripheral blood lymphocytes.
Sulfatidoz (illness of Austin). It is inherited on autosomal recessively type. There is a deficit of three types of arylsulphatase — And, In and With whereas at Sholts's illness only deficit of arylsulphatase A is noted; In fabrics there is an accumulation of sulfatides and acid muko-polysaccharides. The first clinical symptoms appear in the period of a neonatality — children considerably lag behind in psychophysical development. After a year the neurologic symptomatology (spasms, spastic tetraparesis) progresses. In blood and marrow find the leukocytes with Alder's anomaly containing large azurophilic granularity. Alder's anomaly comes to light in neutrocytes and lymphocytes. The forecast is adverse, children live only several years.
Gmi-gangliozidoz I of type (Norman's illness — Landinga). It is inherited on autosomal recessively type. Deficit of three isoenzymes of Gmi-P-galactosidases enzyme — And, In is the cornerstone of a pathogeny of a disease and With that leads to accumulation in a large number of a ganglioside of Gmi and a keratin of sulfate in brain fabric, a liver, spleen, marrow, the lymphocytes, lymph nodes easy. The first clinical signs appear in the period of a neonatality. The child lags behind in mental and physical development, gargolizm symptoms are noted. At most of children the liver and a spleen increases. After 1 year of life neurologic disturbances with development of an amaurosis accrue. There is a defeat of bone system. At research of an eyeground it is possible to reveal a symptom of "a cherry stone". In marrow define cells with foamy cytoplasm. Infiltration of marrow sometimes reaches considerable degree and leads to a pancytopenia. In blood lymphocytes meet vacuolated cytoplasm. The forecast an adverse, lethal outcome usually comes in 2 — 3.
Stggangliozidoz II of type (Derry's illness). It is inherited on autosomal recessively type. Deficit of two isoenzymes of Gmi-P-galactosidases enzyme — In and S. Techeniye longer is the cornerstone of a disease, than at Norman's illness — Landinga. Clinical symptoms appear on the second year of life and are characterized by generally progressing defeat of a nervous system (mental degradation, a convulsive syndrome, a spastic tetraplegia, an amaurosis and decerebration). In marrow define large cells with foamy cytoplasm. At cytochemical research they give positive intensive CHIC reaction. The forecast is adverse, life expectancy — till 10 flyings.
Gmi-gangliozidoz III of type. The disease is described in 1974 and still a little studied. Deficit of a Gmi-P-galactosidase is noted, however activity of enzyme is higher, than at the first two types. The neurologic symptomatology, bone defeats are noted. Find lymphocytes with vacuolated cytoplasm in a miyelogramma.
Gmi-gangliozidoz IV of type. It is inherited on autosomal recessively type. Deficit of two Gmi-P-galactosidases isoenzymes — And yes is the cornerstone of a pathogeny Century. Clinical symptoms appear at children of preschool age. Bone changes, degradation of the psychological sphere, the accruing exhaustion at normal food are characteristic. In marrow the cells with foamy cytoplasm containing lipidic inclusions meet.
Except the classical forms of an amaurotic idiocy (an illness Thea-Saks, etc.) which are characterized by defeat of a nervous system syndromes with the mixed neurovisceral pathology are described. Along with neurologic symptomatology find a splenomegaly. Deficit of isoenzymes of a geksoaminidaza is the cornerstone of a pathogeny And yes In whereas at an illness Thea — Saks is available deficit only of one isoenzyme A. It leads to accumulation in visceral bodies of gangliosides of Gma and Gina and corresponding asialogangliozid. In marrow cells meet vacuolated cytoplasm.
The illness of accumulation of a glycoprotein is inherited on autosomal recessively type. The clinical picture of a disease is caused by slowly progressing increase in a spleen. There is a feeling of weight in left hypochondrium. At significant increase the spleen can be defined palpatorno. There are no other clinical symptoms of a disease. In punctates of a spleen and marrow find the macrophagic cells containing large eosinophilic granules of glycoproteins in cytoplasm. Course of a disease high-quality.
Norum's illness — a family disease with unspecified type of transfer. It is characterized by disturbance of a lipometabolism. A pathogeny of a disease deficit of enzyme letsitin-holesterin-atsetil-is the cornerstone of transferase, participating in esterification unsaturated lecithin of fatty acids. Biochemical also define lack of lipoproteids of high density. Level of cholesterol, triglycerides and lecithin is increased. The disease arises at children. It is clinically shown by a proteinuria, anemia, opacification of a cornea. Anemia has moderate character. Find large cells with the foamy cytoplasm rich with lipids in punctate of marrow. The current is high-quality, the forecast of a disease favorable. Patients live decades.
Volman's illness — heavy hereditary pathology with an autosomal and recessive mode of inheritance. Enzymatic defect is definitely not established. There is a deficit of the acid lipase which is taking part in hydrolysis of ethers of cholesterol and triglycerides. There are no lipoproteids of high density. In cells there is an accumulation of ethers of cholesterol and triglycerides. Volman's illness is clinically similar to Nimann's illness — Peak. Arises at early age, children lag behind in development. Dispepsichesky disturbances — a diarrhea, pernicious vomiting, dystrophy and dehydration, symptoms of defeat of a nervous system — an ataxy, dementia are expressed. The liver and a spleen are considerably increased, the skin xanthomatosis develops. Damage of adrenal glands in which on section reveal multiple calcificats is characteristic of a disease. In punctates of marrow and spleen there are large cells with the foamy cytoplasm containing cholesterol and triglycerides. The forecast is adverse, the death occurs at chest age.
Tanzhye's illness — is inherited on autosomal dominantly type. D. S. Fredrichson in 1960 at inhabitants of the island of Tanzhye is for the first time described. The disease pathogeny is up to the end not clear. There is an accumulation in fabrics of ethers of cholesterol. Biochemical analysis demonstrates decrease in level of cholesterol and phospholipids, the content of triglycerides is a little increased. Total absence and - and R-lipoproteids is noted. At a blood analysis define the unusual fraction of a lipoprotein called "by Tanzhye - an alpha lipoprotein".
Clinical symptoms are various. Lymph nodes, a liver, a spleen increase, polyneurites can develop. Increase in the almonds having orange coloring is characteristic. In marrow — a large number of cells with the foamy cytoplasm containing cholesterol ethers. The illness proceeds is good-quality.
A peculiar form of accumulative diseases is the syndrome known under the name "histiocytosis of sea blue", or the "blue histiocytosis" (seablue hystyocytosis) described in 1970. At this disease the infiltration of fabrics is noted by the macrophagic elements which are painted across Romanovsky in bluish-greenish color, the Cause of illness is not clear. Originally the syndrome was described as the hereditary pathology which had family character with autosomal recessive type of transfer. Character of cell inclusions (phospholipids, glycolipids), the raised excretion with urine of mucopolysaccharides allegedly indicated a special form of a mukolipidoz. However the subsequent supervision showed that macrophagic elements of "sea blue" meet at a number of diseases (A. M. of Rywlin, R. M of Blankenship, 1976). They are observed at a myelosis, an idiopathic Werlhof's disease, a sickemia, a syndrome of the broken intestinal absorption, cirrhosis, and also at diseases to Gosha, Nimanna — Peak, Thea — Saks. It was suggested that a histiocytosis of "sea blue" not one certain nosological form, and manifestation of nonspecific accumulative process at a number of diseases. The increased destruction of elements of blood with long phagocytosis and accumulation in macrophages of the cellular membranes containing fosfo-and glycolipids as fermental utilization of these substances lags behind .ot educations is the cornerstone of this pathology. Morphologically macrophagic elements have rounded shape, a dense kernel. When coloring across Romanovsky cytoplasm gains blue color, foamy, contains small and average granules. Determine by Tsitokhimicheski positive diffusion reaction with Sudan in black B, positive CHIC reaction. Clinically the syndrome is characterized by significant increase in a liver and spleen, a moderate generalized hyperadenosis. Find the infiltrates having an appearance of strips in lungs. Skin pigmentation is noted. At development of a syndrome in children of early age heavy neurologic disturbances — disorders of motility, convulsive epileptic seizures, an intellectual underdevelopment are noted. At many patients as a result of a massive infiltration of marrow the pancytopenia and a skin hemorrhagic syndrome develop. There can be plentiful nasal and gastrointestinal bleedings. The forecast of a disease, especially at children's age, adverse.
Plasmatic lipoidoses, or giperlipoproteinemiya — group of the diseases which are characterized by disturbance of a metabolism of various lipoproteids. Now allocate five forms of plasmatic lipoidoses — I, II, III, IV, V types.

The I type of a plasmatic lipoidosis (a Thrombangiitis obliterans — Gryuttsa) is caused by deficit of enzyme of lipoproteinlipase. It in various fabrics is resulted by formation of the xanthomas consisting of macrophagic cells with foamy cytoplasm. The disease is inherited on autosomal recessively type. It is clinically shown at children's age, the gepatosplenomegaliya which is followed by an abdominal pain is noted. On skin eruptive xanthomas with preferential localization on a face, extensor surfaces of extremities, buttocks are formed. In marrow find foamy cells. Level of cholesterol and triglycerides is increased, contents and - and R-lipoproteids is reduced. Low lipolytic activity of serum is defined. Forecast of a disease rather favorable.

The plasmatic lipoidosis of the II type is inherited on autosomal dominantly type with incomplete penetrance. Deficit of enzymes is not found out. Clinical symptoms arise at children's age. The generalized xanthomatosis with localization on extensor surfaces of extremities, buttocks, a face, in sinews of muscles is noted. The morphological picture of xanthomas has some similarity to an eosinophilic granuloma that can serve as the reason of diagnostic mistakes. At a lipoidosis of damage of a bone tissue it is not noted. Pathomorphologic substrate is provided by macrophagic cells, eosinophilic granulocytes, fibroblasts. Weight of a course of a disease is defined by atheromatous defeat of coronal vessels of heart. In peripheral blood and marrow there are no changes. Level of cholesterol is considerably increased and it is moderate — triglycerides. Increase in R-lipoproteids is noted. The forecast of a disease depends on time of emergence and degree of vascular disorders. Defeat of coronal vessels can serve as the reason of a lethal outcome.
The plasmatic lipoidosis of the III type is inherited on autosomal recessively type. The pathogeny of a disease is not clear. It is generally shown at adults. The clinical picture is characterized by formation of xanthomas and defeat of coronal vessels. Level of cholesterol is increased. Feature of this form is existence of a hyperuricemia.
The plasmatic lipoidosis of the IV type is generally shown by a coronary disease and a hyperuricemia.
The lipoidosis of the V type is observed at adults and has a similar clinical picture with a lipoidosis of the I type. Besides, the hyperuricemia is noted. Giperlipoproteinemiya can also have secondary character. In treatment the leading place is taken by a dietotherapy — decrease in a diet of fats and carbohydrates, replacement of animal fats on vegetable.
In 1952 S. Farber described a syndrome which is probably inherited in the autosomal and recessive way. The infiltration of a liver, spleen, lymph nodes, marrow is noted by the macrophagic cells containing lipids. Deficit of the tseramidaza participating in utilization of sphingolipids is the cornerstone of a disease. Clinical symptoms are observed at children of chest age. A condition of children heavy, the generalized hyperadenosis, a gepatosplenomegaliya, a hemorrhagic syndrome are noted. In blood — anemia, thrombocytopenia. Marrow infiltrirovan foamy cells. The forecast of a disease adverse — a fast lethal outcome.
In 1898 Fabry described N. diffusion angiokeratoz (Fabri's illness),
which was carried afterwards to lipoidoses. It is inherited on the recessive type linked to X-chromosome. The deficit of enzyme of a tseramidtrigeksozidaza (Gmi-a-galactosidase) leading to accumulation of a sphingolipid-tseramidtrigeksozida is the cornerstone of a pathogeny. Mainly skin and kidneys are surprised. Proceeding from hematologic indicators, the disease is differentiated with an illness of Randyu — Oslera. Diffusion angiokeratoz — the frequent disease, is observed only at boys and usually shown at school age. In the expressed stage the clinical picture is characterized by a number of symptoms. On skin and mucous membranes the angiomatous small knots of dark red color which are not disappearing when pressing. They are covered with a keratizirovanny crust when combing bleed. Preferential localization of angiokeratomas on lips, in a navel, a scrotum. There are changes on an eyeground: narrowing of veins with expansion sites, a cataract in a development stage. The albuminuria, cylindruria, hamaturia, symptoms of a renal failure are characteristic. Defeat of a cardiac muscle is possible. There are bone defeats, patients are disturbed by extremity pain, the bone necrosis sometimes develops. In a late stage defeat of a nervous system — a parasthesia is observed, cranial nerves suffer. The diagnosis is confirmed on the basis of decrease of the activity of enzyme in leukocytes, culture of skin fibroblasts. Development of a heart and renal failure serves as the reason of a lethal outcome. A certain effect is rendered by repeated plasma transfusions. Treatment of eye complications, correction of renal and cordial disturbances is carried out. Now the method of transplantation of a kidney is tested. The replaced kidney substitutes sick body and is capable to produce scarce enzyme.



 
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