Sistinas

Sistinas - a hereditary disease associated with the violation of the exchange of cystine crystals which are deposited in tissues and cause various functional disorders of internal organs.
The disease appears on the second half of a child's life, there are: loss of appetite, weight loss, thirst, constipation, fever. Often found photophobia, enlarged liver and spleen. Gradually develop rachitic curvature of the tubular bones, osteomalacia (see); children lag behind in growth and development. Sometimes these symptoms are dominant. Then attaches pyelonephritis, and children die from uraemia. In acute disease death comes on the 2-3-year life when events hyperthermia, coma, and vascular collapse.
In the patient's blood detect a moderate anemia, giperhloremiceski acidosis, gipokaliemia, reduction of inorganic phosphates and increased activity of alkaline phosphatase; in urine - aminoaciduria, militaria (increased excretion of Sugar), in the terminal phases - Hypo - and isosthenuria.
Treatment of cystinosis. Prescribe high doses of vitamin D (up to 10 000 IU a day), anabolic hormones (nerobolum 0.1 mg per 1 kg of weight), drugs phosphorus and potassium (potassium acetate 3-5% 1 chain. l - 1 table. L. 3 times a day), citrate mixture intravenous (Acidi citrici - 10,0, Natrii citrici 14,0, Aq. destill. ad 100,0; 3.0-15.0 ml 3 times a day), 4% solution of sodium bicarbonate by a doctor. The presence of infection - antibiotics in doses appropriate to the child's age.

Sistinas - a hereditary disease characterized by the violation of amino acid metabolism resulting in the accumulation of cystine crystals in the tissues, causing disorders of internal organs.
The most significant changes occur in the activities of the renal tubules, and therefore develop carbohydraturia, hyperaminoacidaemia, phosphaturia, and in the clinic of the disease one of the most important signs of cystinosis are manifestations of renal rickets". Sistinas first described Abderhalden (I.e. Abderhalden, 1903). When in the 30-ies of the 20 century was described syndrome de Toni - Debre - Fanconi's syndrome (glucosaminidase), arose the assumption about the identity of this syndrome and cystinosis, however later it was proved that sistinas - the disease of metabolism of amino acids, whereas syndrome de Toni - Debre - Fanconi's syndrome caused by a primary lesion of the renal tubules (may experience both as an independent disease, or as a secondary manifestation of other hereditary diseases of metabolism, in particular sistinas). The pathogenesis of cystinosis based on the existence of a hereditary enzyme block in the oxidation of cystine. Under physiological conditions one of the main ways of converting cystine is education cystine-desulfated being decarboxylation and splits into two molecules of taurine. There is another way of converting cystine - education cystine-sulfonovoj acid, which is also associated with oxidation of cystine. Yet to be determined, in what way or stage of these transformations there enzymatic block. Accumulating in the tissues cystine is characterized by poor solubility and precipitates in the form of crystals. Deposits cystine are found in the bone marrow, the liver parenchyma, spleen, lymph nodes, the cornea of the eye, in the cells of the tubular epithelium of the kidneys. However, morphological changes in the kidney, characteristic for cystinosis, usually not detected. Described by some authors change the proximal convoluted tubule in the form of "Swan neck" Schreier (K. Schreier) considers not typical for cystinosis; they are more characteristic of primary kanalzeva deficiency syndrome de Toni - Debre - Fanconi's syndrome. In bone tissue when chitinase detected-like changes: coarse-fibered the bone structure, fibrosis, phenomena of osteoporosis and osteomalacia.
The disease cystinosis has a family character and with the same frequency common in boys and girls. The type of inheritance is autosomal recessive. In the first months of life, children, patients with cystinosis, develop normally. The disease appears at the end of the first or early second half: marked thirst, loss of appetite, constipation, vomiting after meals or not associated with breastfeeding. The increased body temperature cannot be associated with any infection, at the same time the resistance of the child to infectious diseases is reduced. The tendency to dehydration causes a sudden drop weight. Sometimes there photophobia, enlarged liver and spleen. Gradually develop rachitic skeletal alterations, however, many children die before the development of full picture-like disease. Death comes with symptoms of dehydration, hyperthermia and collapse. Some children rachitic changes bones, on the contrary, become the dominant feature of the disease, which in these cases is characterized by sluggish (subacute) over. Children lag behind in growth, having curvature of the long bones, appear parietal hillocks, rosary beads on the edges, Haritonova furrow, hypotension muscles. Clinically and radiologically these changes may initially interpreted as manifestations of rickets associated with a deficiency of vitamin D, and only at an older age can be suspected renal Genesis rachitic phenomena. The progression of the disease is accompanied with a more dramatic changes on the part of the bone down to spontaneous fractures, attach pyelonephritis, the development of secondary wrinkling of the kidneys. In the urine of patients with increased content of aminatta (more than 2 mg per 1 kg of weight per day)and inorganic phosphate (more than 1 g per 1 m2 body surface), is found sugar. In blood moderate anemia, symptoms giperhloremiceski acidosis, gipokaliemia. The content of inorganic phosphorus in the blood is reduced, alkaline phosphatase activity is high. The disease prognosis is usually poor: children die or when events "disaster exchange", or kidney failure with symptoms of uremia. Unlike syndrome de Toni - Debre - Fanconi's syndrome, lstinas begins in earlier childhood and is characterized by malignant. You must sistinas be differentiated with Hypo - and hypervitaminosis D (see Hypervitaminosis, Rickets). Great diagnostic value for cystinosis has detection of cystine crystals in the cornea of the eye, in punctate bone marrow, leukocytes.
Pathogenetic treatment of cystinosis does not exist. Applied inside vitamin D in high doses and long-term (10000-50000 THEIR daily), anabolic steroids, phosphates, drugs and potassium. When expressed disorders intravenous solution of sodium bicarbonate; if concomitant infection shown antibiotics.