"108056" . "Mukopolysacharid\u00F3zy jsou vrozen\u00E1 d\u011Bdi\u010Dn\u011B podm\u00EDn\u011Bn\u00E1 onemocn\u011Bn\u00ED l\u00E1tkov\u00E9 v\u00FDm\u011Bny, kter\u00E1 jsou zp\u016Fsobena chyb\u011Bn\u00EDm konkr\u00E9tn\u00EDho \u017Eivotn\u011B d\u016Fle\u017Eit\u00E9ho enzymu. N\u00E1sledkem toho se hromad\u00ED produkty metabolismu, je\u017E se usazuj\u00ED ve tk\u00E1n\u00EDch \u010Detn\u00FDch org\u00E1n\u016F (j\u00E1tra, slezina, srdce, mozek) s n\u00E1slednou poruchou jejich funkce. Zpo\u010D\u00E1tku d\u011Bti v\u011Bt\u0161inou dob\u0159e prosp\u00EDvaj\u00ED, klinick\u00E9 projevy onemocn\u011Bn\u00ED jsou patrn\u00E9 a\u017E v pozd\u011Bj\u0161\u00EDm v\u00FDvoji. Mukopolysacharid\u00F3za II. typu, tak\u00E9 zn\u00E1m\u00E1 jako Hunter\u016Fv syndrom, postihuje p\u0159ev\u00E1\u017En\u011B chlapce. Klinick\u00E9mu obrazu dominuje mal\u00E1 postava, kr\u00E1tk\u00FD krk, makrocefalie, prominuj\u00EDc\u00ED \u010Delo, ploch\u00FD ko\u0159en nosu, hrub\u00E9 rysy obli\u010Deje, flek\u010Dn\u00ED kontraktura prst\u016F, velk\u00E9 b\u0159icho a ment\u00E1ln\u00ED retardace. Stomatologick\u00FD n\u00E1lez zahrnuje chab\u00FD retn\u00ED uz\u00E1v\u011Br a makroglosii projevuj\u00EDc\u00ED se otev\u0159en\u00FDmi \u00FAsty, makrocheilii, \u0161irok\u00E9 zubn\u00ED oblouky a tremat\u00F3zn\u00ED chrup. Podez\u0159en\u00ED na Hunter\u016Fv syndrom vypl\u00FDv\u00E1 z klinick\u00E9ho vy\u0161et\u0159en\u00ED pacienta, diagn\u00F3zu podpo\u0159\u00ED anal\u00FDza mo\u010Di a definitivn\u011B potvrd\u00ED molekul\u00E1rn\u011B genetick\u00E9 vy\u0161et\u0159en\u00ED. K l\u00E9\u010Db\u011B se vyu\u017E\u00EDv\u00E1 transplantace hematopoetick\u00FDch kmenov\u00FDch bun\u011Bk nebo \u010Dast\u011Bji substituce chyb\u011Bj\u00EDc\u00EDho enzymu." . "5" . "http://www.prolekare.cz/pdf?id=41487" . "Stomatological Problems in Child with the II Type Mucopolysaccharidosis"@en . . "enzyme replacement therapy; multisystemic disability; gargoylism; Hunter syndrome; mucopolysaccharidosis"@en . "6"^^ . "1213-0613" . . "RIV/00669806:_____/13:10139717" . . "Baborsk\u00E1, Lucie" . "I" . . "61" . "Merglov\u00E1, Vlasta" . "Stomatologick\u00E1 problematika u d\u00EDt\u011Bte s mukopolysacharid\u00F3zou II. typu"@cs . . . . . . "Praktick\u00E9 zubn\u00ED l\u00E9ka\u0159stv\u00ED" . "Stomatologick\u00E1 problematika u d\u00EDt\u011Bte s mukopolysacharid\u00F3zou II. typu" . . . "2"^^ . "[A03D76D841BD]" . "Stomatologick\u00E1 problematika u d\u00EDt\u011Bte s mukopolysacharid\u00F3zou II. typu"@cs . "Stomatological Problems in Child with the II Type Mucopolysaccharidosis"@en . "CZ - \u010Cesk\u00E1 republika" . "RIV/00669806:_____/13:10139717!RIV14-MZ0-00669806" . "Stomatologick\u00E1 problematika u d\u00EDt\u011Bte s mukopolysacharid\u00F3zou II. typu" . "2"^^ . . . . . "Mukopolysacharid\u00F3zy jsou vrozen\u00E1 d\u011Bdi\u010Dn\u011B podm\u00EDn\u011Bn\u00E1 onemocn\u011Bn\u00ED l\u00E1tkov\u00E9 v\u00FDm\u011Bny, kter\u00E1 jsou zp\u016Fsobena chyb\u011Bn\u00EDm konkr\u00E9tn\u00EDho \u017Eivotn\u011B d\u016Fle\u017Eit\u00E9ho enzymu. N\u00E1sledkem toho se hromad\u00ED produkty metabolismu, je\u017E se usazuj\u00ED ve tk\u00E1n\u00EDch \u010Detn\u00FDch org\u00E1n\u016F (j\u00E1tra, slezina, srdce, mozek) s n\u00E1slednou poruchou jejich funkce. Zpo\u010D\u00E1tku d\u011Bti v\u011Bt\u0161inou dob\u0159e prosp\u00EDvaj\u00ED, klinick\u00E9 projevy onemocn\u011Bn\u00ED jsou patrn\u00E9 a\u017E v pozd\u011Bj\u0161\u00EDm v\u00FDvoji. Mukopolysacharid\u00F3za II. typu, tak\u00E9 zn\u00E1m\u00E1 jako Hunter\u016Fv syndrom, postihuje p\u0159ev\u00E1\u017En\u011B chlapce. Klinick\u00E9mu obrazu dominuje mal\u00E1 postava, kr\u00E1tk\u00FD krk, makrocefalie, prominuj\u00EDc\u00ED \u010Delo, ploch\u00FD ko\u0159en nosu, hrub\u00E9 rysy obli\u010Deje, flek\u010Dn\u00ED kontraktura prst\u016F, velk\u00E9 b\u0159icho a ment\u00E1ln\u00ED retardace. Stomatologick\u00FD n\u00E1lez zahrnuje chab\u00FD retn\u00ED uz\u00E1v\u011Br a makroglosii projevuj\u00EDc\u00ED se otev\u0159en\u00FDmi \u00FAsty, makrocheilii, \u0161irok\u00E9 zubn\u00ED oblouky a tremat\u00F3zn\u00ED chrup. Podez\u0159en\u00ED na Hunter\u016Fv syndrom vypl\u00FDv\u00E1 z klinick\u00E9ho vy\u0161et\u0159en\u00ED pacienta, diagn\u00F3zu podpo\u0159\u00ED anal\u00FDza mo\u010Di a definitivn\u011B potvrd\u00ED molekul\u00E1rn\u011B genetick\u00E9 vy\u0161et\u0159en\u00ED. K l\u00E9\u010Db\u011B se vyu\u017E\u00EDv\u00E1 transplantace hematopoetick\u00FDch kmenov\u00FDch bun\u011Bk nebo \u010Dast\u011Bji substituce chyb\u011Bj\u00EDc\u00EDho enzymu."@cs . . "Mucopolysaccharidoses are congenital, hereditary disorders of metabolism, caused by deficiency of vital enzyme. As a result of this the products of metabolism accumulate and settle in tissues and body organs (liver, spleen, heart, brain) and cause malfunction. Children mostly thrive well initially, clinical manifestation of illness are obvious in future development. The II type mucopolysaccharidosis, well-known as Hunter syndrome, affects predominantly boys. In the clinical picture there is typical small figure, short neck, macrocephalia, prominent forehead, flat root of nose, hard-featured, fingers with flex contraction, large abdomen and mental retardation. Stomatological report include poor labial closure and macroglossia manifested in opening of the mouth, macrocheilia, wide dental arches and dentition with spaces. Suspicion for Hunter syndrome follow from clinical examination of the patient, the diagnosis is supported by analysis of urine and definitively confirmed by molecular genetical examination. The transplantation of haematopoietic cells or more frequently the substitution of missing enzyme are used in the therapy."@en . . .