CYSTINOSIS (cystinosis; synonym: Ab-dergaldena a disease, Abdergalde-na — Fankoni a syndrome, tsistinovy diabetes) — the hereditary disease connected with disturbance of exchange of cystine, which is characterized by its accumulation in cells of various bodies and fabrics and shown permanent disturbances of functions of kidneys, a delay of physical development, rakhitopodobny changes of a skeleton.
E. Abdergalde is for the first time described by number in 1903. Frequency of a disease in population about 1:600 Ltd companies. It is inherited on autosomal recessive mu to type.
Essence of fermental defect at C. it is not established yet, however it is proved that crystals of free cystine (see) are located in the lysosomic device of cells. It gives the grounds to assume that inherited disorders of membrane transport of cystine in lysosomes are the main etiology.
At gistol. a research in tissue of a liver, spleen, limf, nodes, marrow, muscles, a nervous system find crystals of cystine more often rectangular, sometimes a hexagonal form, the reminding bee cells. Quite often find foamy cells in bodies. In kidneys find symptoms of intersticial nephrite, dystrophic changes of a canalicular epithelium, the wrinkled renal balls. In cytoplasm of epithelial cells of a cornea of an eye, histiocytes, kerato-tsit inclusions of the crystals of cystine surrounded with a membrane are noted.
Wedge, picture C. it is characterized by the growth inhibition and physical development which is shown in the second half of the year of life. Precursory symptoms are a polyuria (see) and a polydipsia (see), to-rye can remain unnoticed with babies. Due to the damage of kidneys periodically developing dehydration of an organism is observed, a cut is followed by fervescence. At the child appetite worsens, there is vomiting, constant locks are observed. Damage of eyes is shown by conjunctivitis (see), the meeting squint (see). By the end of the first year of life at the child low growth, rakhitopodobny changes of bones is noted (About - or H-shaped curvatures of legs), it is frequent — the general hypotrophy, increase in a liver and spleen, the expressed photophobia develops, visual acuity decreases, the renal failure progresses. Along with severe (full) forms of a disease asymptomatic high-quality options C are described., when crystals of cystine in a cornea or leukocytes are found accidentally in clinically healthy children. There are also incomplete forms which are shown at more advanced age and differing in moderately expressed symptomatology.
The diagnosis is based on data of clinical, ophthalmologic and biochemical researches. In leukocytes of the tissue of marrow received by means of a puncture find crystals of cystine. At a research of urine a glucosuria (to 4 g of glucose in 100 ml of urine), a generalized aminoaciduria with moderate increase in excretion of cystine, to hyper phosphate the riya, and also a proteinuria, a cylindruria and an erythrocyturia come to light. Despite existence of a metabolic acidosis, reaction of urine remains alkaline. In blood decrease in content of inorganic phosphates, increase in activity of alkaline phosphomonoesterase, increase of residual nitrogen and creatinine is noted. At a research of an eyeground reveal the centers of a degeneration and a depigmentation of a retina, in a conjunctiva of eyes and a cornea find opacifications.
Differential diagnosis carry out about phosphate diabetes (see), de Tony's syndrome — Debra — Fankoni (see De Tony — Debra — Fankoni a syndrome), renal tubular acidosis (see L of an aytvud — Albright a syndrome). The major diagnostic importance at the same time has detection of crystals of cystine in a cornea, leukocytes and in tissue of marrow.
Treatment includes a diet with restriction of sulfur-containing proteins. The products alkalizing urine, a large amount of liquid shall enter a diet; appoint citrate mixes, Diacarbum or hypothiazid, a glutamine, Penicillaminum (in more detail — see the Cystinuria). There are data on high performance of the aminothiols (Cysteaminum, a ditiotre-itol) reducing the content of cystine in cells, however in connection with high toxicity it is necessary to appoint them carefully. Apply ascorbic to - that (on 200 mg! kg a day)> reducing the content of cystine in fabrics, and also vitamin D (on 10 000 — 15 000 ME a day).
The forecast at severe forms adverse. The lethal outcome comes usually at early age from a renal failure.
Prevention is not developed. Attempts of antenatal diagnosis are made.
See also Cystinuria.
Bibliography: Ignatova M. S. and Vel-t and shch e in Yu. E. Guide to children's nephrology, L., 1982; Abderhalden E. Familiare cystindiathese, Hoppe-Sey-lers Z. physiol. Chem., Bd 38, S. 557, 1903; Metabolic basis of inherited disease, ed. by J. B. Stanbury a. o., p. 1660, N. Y. a. o.,
1978. BB. E. Veltishchev.