Storage disease

Storage disease – a group of diseases characterized by hyperplastic neleykemicheskih macrophage proliferation elements with simultaneous accumulation of lipids in them unmetabolized. Giperplaziya elements of the system of mononuclear phagocytes in the spleen, liver, bone marrow, lymph nodes and other organs attached to the systemic nature of diseases. In diseases of the accumulation discovered a hereditary enzyme deficiency, promoting lipid utilization.

For storage diseases are Gaucher disease, Niemann-Pick disease and other, rare disease.

Gaucher Bolezny

The disease is caused by a deficiency of the enzyme glucocerebrosidase. It is characterized by the presence of specific elements - Gaucher cells of up to 20-80 m. Dimensions cytoplasm significantly prevail over the size of the nucleus, it is foamy, vacuolated, steklovidno-tyaguchego or fibrillyarno-ischerchennogo character in rezulytate nakopleniya in nei glyukotserebrozidov. The hinges cells or between fibrillar bundles are highlights from the gleam of metal.

In the cytoplasm of Gaucher cells are sometimes found lumps hemosiderin. The presence of these inclusions indicates phagocytic activity of Gaucher cells. Gaucher cell nuclei elongated, round or oval, grubosetchatoy structure, compact, located in the center and, and along the periphery of the cells. The number of nuclei in a cell varies from 1-2 to 20 and more. Sometimes there syncytial formation. For young Gaucher cells are characterized by a homogeneous basophilic cytoplasm without inclusions. Usually punctates identified as various degenerative forms of Gaucher cells.

Diagnosis of Gaucher disease It can be set not only morphologically, and biochemically - by detecting deficiency of glucocerebrosidase and the accumulation of glucocerebroside in cells.

Gaucher disease most often develops in children, but described the cases of the disease and in individuals over the age of 80 years. Most often ill woman.

The disease is hereditary family. There have been cases in the presence of several members of his family one generation (eg, two sisters). Sharp (subacute) Gaucher option sorrows typical for early childhood. Chronic option most often seen in middle and old age.

In acute version of the disease is difficult. Vyrajyeny gyemorragichyeskii diatyez (nosebleeds, haemorrhages on the skin) and infantilism (developmental delays, sometimes stunting, delay of menses in girls). In chronic version of the disease also begins in childhood, but it progresses very slowly. The duration of his 20 30 years. Spleen thick, smooth or bumpy. In the chronic form reaches its mass 8 kg or more. Described rare cases, spleen size when not changed or slightly increased. The liver is enlarged, sometimes significantly. With the development of cirrhosis may cause jaundice and ascites.

Lymph nodes grow rare, although they are almost always detected punctates specific cells. In light of radiographically detected infiltrations, which clinically manifested by repeated bronchopneumonia. Often involved in the process of bone. Other organs in Gaucher disease are rarely affected. On the X-ray revealed a significant expansion of the medullary canal and thinning of cortical bone from the inside; Bone marrow increased volume.

Bone structure value-clear (osteoporosis). In severe cases, the pineal gland is partially absorbed, cartilage remains unchanged. Skull in Gaucher disease is usually not affected.

The skin of the hands and face becomes brownish, ocher-yellow color, which can be spotty or diffuse. In the later period of the disease the skin becomes bronze, it develop hemochromatosis and melanosis.

Patients can be seen anemia of varying severity, sometimes hemoglobin decreased to 3,72-4,34 mmol / l (60-70 G / l), and red blood cells - to 2,5 T 1 l. The number of leukocytes is normal, increased, but more often observed leucopenia (to 0,8 T in 1l). In no abnormalities characteristic leukogram. The platelet count is always reduced to 80-90, even up to 20-30 T in 1 l. In some cases, the peripheral blood can be detected individual cells of Gaucher.

The basic material for the diagnosis, spleen punctate, where Gaucher cells are detected continuously and in large numbers. These cells can be found in punctate sternum. According to the predominance of one or the other of symptoms distinguish the following clinical variants of Gaucher disease:

• spleen, liver;
• bone;
• pulmonary;
• hemorrhagic.

NPD

The disease is characterized by a deficiency of the enzyme sphingomyelinase. As a result of disturbances of lipid metabolism in the body are formed in a large amount sphingolipids, are deposited in the form of droplets in macrophage cells.

The cells Niemann-Pick detected in spleen, liver, bone marrow. These large sizes, 30-40 microns in diameter, polygonal or rounded shape. Their bright wide cytoplasm in native form of the drug has a cellular, because it is filled with lots of shiny grains, part of which gives the double refraction. Some cells have a homogeneous cytoplasm. The cell nuclei are small.

Many researchers called the cells Niemann-Pick foamy, since their fixation and staining cytoplasm becomes perforated, tracery (preparations treated with alcohol, lipoid substance that dissolves).

The cells Niemann-Pick, unlike in the Gaucher kletok, stained with Sudan III and osmium (specific staining of fat). In all bodies of the capillary endothelium, and macrophage elements, transformed cells, Niemann-Pick, saturated sphingolipids, resulting in a sharp dystrophy tsitolemmy cells and pour its contents into the surrounding tissue.

The diagnosis of NPD It can be confirmed by detection of biochemical failure sphingomyelinase activity in cultured fibroblasts.

NPD, as Gaucher's disease - familial constitutional pathology. It manifests itself in early childhood (even in breast), It is more common in girls. Proceeds in two clinical forms:

• Visceral:
• Bone.

Visceral disease Niemann-Pick develops in infancy and is characterized by particularly malignant and fast-flowing. Life expectancy of children 1-3 years. This form of the disease characterized by pronounced hepato- and splenomegaly, progressive anemia, thrombocytopenia, bone disease and general dystrophy.

Bone disease Niemann-Pick usually develops between the ages of 5-b years. Characteristic brownish color of the skin, bone disease, especially the cranial vault (radiologically determined bone defects). In areas damaged bones are identified pockets of connective tissue proliferation, in which the cells are detected, Niemann-Pick, containing sphingolipids.

When bone shape spleen and lymph nodes are enlarged slightly, but they, as bone, identify specific cells. When NPD lipids in serum increased 3-4 fold above normal (5-6 G / l).