ShYoYE DISEASE (H. G. Scheie, amer. ophthalmologist, sort. in 1909; synonym: mukopolisakharidoz the V type, Ulrich's syndrome — Sheye, a late syndrome Gurler, a dysostosis of Mor-kio with opacification of a cornea, a hereditary osteoarthropathy with recessive inheritance, a late form of a disease of Pfaundler — Gurler) — the hereditary disease from group of mukopolisakharidoz caused by defect of enzyme and - L - iduronidazy, shown multiple deformations and tugopodvizhnostyo joints of extremities, opacification of a cornea.
It is described in 1962 Mr. of Sheye. It is inherited on autosomal recessively type. The disease as well as a syndrome Gurler (see Gargoilizm), it is connected with defect of enzyme a - L - iduronidazy, at Krom develops generalized defeat of connecting fabric with excess adjournment in it glikozaminoglika-is new — a dermatansulfat and geparan-sulfate. However defect of enzyme at Sh. it is expressed in smaller a step -
Fig. Girl of 15 years with a disease Sheye: the characteristic person, low growth, deformation of a kolenna x, coxofemoral, radiocarpal joints and small joints of a brush (a so-called sharp-clawed paw), the increased stomach owing to a hepatomegalia, umbilical hernia.
than at a syndrome Gurler. The reasons of distinction a wedge, manifestations of these two types of mukopolisakharidoz are not known.
At a pathoanatomical research the most considerable changes (accumulation by glycoses-noglikanov, neutral fats, excess collagenization) come to light in a brain, heart, a liver, a spleen. In bones disturbance of an endostosis, adjournment of glikozaminoglikan in cells of a cartilage is noted.
The first symptoms of a disease appear more often at school age. There is a deformation of large and small joints of hands and legs with restriction of mobility of most of them, a valgus curvature of knee joints. Damage of small joints of fingers of a hand gives it a type of a sharp-clawed paw (fig). Rigidity of joints of brushes amplifies in connection with development of a syndrome of a carpal tunnel, to-ry is shown by feeling of numbness and a pricking in zones of an innervation of a median nerve and an atrophy of the muscle giving a thumb (see. Tunnel syndromes). The opacification of a cornea which was more expressed on the periphery is observed. Growth is lower than norm. Patients thickset, with strongly developed muscles and the characteristic person. The raised pilosis, a thickening and a tension of skin on fingers, umbilical or inguinal hernia, sometimes a hepatomegalia and pigmental dystrophy of a retina are noted (see Tapetoretinalny dystrophies). At III. 6. often the stenosis of an aortal opening and (or) insufficiency of the aortal valve develops. The intelligence significantly does not suffer.
The diagnosis is made on the basis a wedge, displays of a disease and the raised excretion of mucopolysaccharides (see) with urine (first of all a dermatansulfat In and to a lesser extent a geparansulfat). In blood cells at III. unlike a syndrome Gurler dermatansulfat In does not come to light. Detection of insufficiency of a - L - iduronidazy by definition of its activity is essential for diagnosis. As the most convenient material for a research serve leukocytes and fibroblasts of skin. Activity of a - L - iduronidazy define by chromogenic or fluo-rogenny substrates, in particular
4-sweep to a lumba lliferit - a - L - iduroni - yes. Differential diagnosis is carried out from mukopolisakharidoza of other types (see Mukopolisakha-r and doses).
Treatment is a little effective. At Sh., just as at mukopolisa-haridoza of other types, apply glucocorticoids, AKTG, vitamin A in high doses, symptomatic means.
The forecast for life adverse, a disease steadily progresses, the lethal outcome can come at any age from cardiovascular insufficiency or associated diseases.
Prevention is directed to antenatal diagnosis of a disease and is performed in the course of medicogenetic consultation (see. Medicogenetic consultation).
See also Mukopolisakharidoza.
Bibliography: Badalyan JI. The lake, Thabo l and V. A. N and In e l t and shch e in Yu. E. Hereditary diseases at children, page 305 of M., 1971; Barashnev Yu. I. and
Veltishchev Yu. E. Hereditary diseases of a metabolism at children, page of 174 L., 1978; Kalinin L. V. and Gusev E. I. Hereditary diseases of metabolism and a fakomatoza with defeat of a nervous system, page 98, M., 1981; Hereditary diseases, under the editorship of L. O. Badalyan, page 40, Tashkent, 1980; Scheie H. G., N and m b r i with k G. W. and. Vag-ness L. A. A newly recognized forme fruste of Hurler’s disease (gargoylism), Amer. J. Ophthal., v. 53. p. 753, 1962.
Yu. A. Knyazev, V. A. Ageykin.