{"id":16,"date":"2015-03-23T19:40:13","date_gmt":"2015-03-23T18:40:13","guid":{"rendered":"http:\/\/www.zivotsesyndromem.cz\/?page_id=16"},"modified":"2015-03-23T19:40:13","modified_gmt":"2015-03-23T18:40:13","slug":"treacher-collins-syndrom-tcs","status":"publish","type":"page","link":"https:\/\/www.zivotsesyndromem.cz\/?page_id=16","title":{"rendered":"Treacher Collins syndrom (TCS)"},"content":{"rendered":"

<\/a> Tento syndrom si z\u00edskal n\u00e1zev po anglick\u00e9m chirurgovi a oftalmologovi <\/span>Treacheru Collinsovi<\/span><\/strong>. Poprv\u00e9 tenhle syndrom byl pops\u00e1n panem Thomsonem (1846), pozd\u011bji pak \u0161v\u00fdcarsk\u00fdm oftalmologem <\/span>Franceshettim<\/span><\/strong> a genetikem <\/span>Kleinem<\/strong>,<\/b><\/span> proto se m\u016f\u017eete setkat s\u00a0ozna\u010den\u00edm <\/span>Franceschetti<\/strong> <\/span>\u2013 <\/span><\/strong>Klein syndrom<\/strong>. <\/b><\/span>Dal\u0161\u00ed n\u00e1zvy pro tento syndrom mohou b\u00fdt <\/span>Berry Treacher Collins syndrom <\/span><\/strong>nebo <\/span>Franceschetti \u2013 Zwahlen syndrom<\/strong>. <\/b><\/span>Tento syndrom spad\u00e1 do diagn\u00f3zy pod k\u00f3dem <\/span>Q75.4<\/b><\/span><\/span><\/span>.<\/span><\/span><\/span><\/a>, kter\u00fd nese n\u00e1zev <\/span>Mandibulofacialn\u00ed dysost\u00f3za (MFD1)<\/span><\/strong>. Podle <\/span>Mezin\u00e1rodn\u00ed statistick\u00e9 klasifikace nemoc\u00ed a p\u0159idru\u017een\u00fdch zdravotn\u00edch probl\u00e9m\u016f<\/span><\/strong> spadaj\u00ed diagn\u00f3zy pod k\u00f3dem <\/span>Q00-Q99<\/b><\/span> do <\/span>vrozen\u00fdch vad, deformac\u00ed a chromozom\u00e1ln\u00edch abnormalit<\/b><\/span><\/a><\/span><\/span>, kam se \u0159ad\u00ed i <\/span>Goldenhar syndrom<\/span>.<\/span><\/strong><\/p>\n

\"TCS<\/a><\/strong><\/p>\n

Genetika<\/span><\/strong><\/p>\n

TCS spad\u00e1 pod <\/span>autozom\u00e1ln\u011b dominantn\u011b d\u011bdi\u010dn\u00e9 onemocn\u011bn\u00ed,<\/span> postihuj\u00edc\u00ed ob\u011b pohlav\u00ed<\/strong>. A\u017e <\/span>60 %<\/span><\/strong> se TCS objev\u00ed jako <\/span>nov\u00e1 genov\u00e1 mutace<\/span><\/strong>, nap\u0159. po l\u00e9c\u00edch, z\u00e1\u0159en\u00ed a jin\u00fdch vn\u011bj\u0161\u00edch vlivech. Pravd\u011bpodobnost, \u017ee <\/strong><\/span>d\u00edt\u011b zd\u011bd\u00ed<\/span> po posti\u017een\u00fdch rodi\u010d\u00edch TCS je <\/span><\/strong>50 %<\/strong>.<\/span> Riziko, \u017ee posti\u017een\u00e1 \u017eena p\u0159ed\u00e1 d\u00e1le defektn\u00ed gen na nenarozen\u00e9ho je vy\u0161\u0161\u00ed ne\u017e u posti\u017een\u00fdch mu\u017e\u016f. Av\u0161ak nov\u00e1 mutace se s\u00a0v\u011bkem otce zv\u011bt\u0161uje. Porucha vznik\u00e1 a\u017e <\/span>v\u00a07. t\u00fddnu t\u011bhotenstv\u00ed<\/span>. Posti\u017een\u00ed lid\u00e9 t\u00edmto syndromem <\/strong><\/span>nejsou du\u0161evn\u011b posti\u017eeny!<\/span><\/strong><\/p>\n

Pokud potomek posti\u017een\u00fdch rodi\u010d\u016f nezd\u011bd\u00ed TCS, nem\u016f\u017ee d\u00e1l tento syndrom u\u017e p\u0159ed\u00e1vat. Ve v\u00fdjime\u010dn\u00fdch p\u0159\u00edpadech by \u0161lo o novou mutaci. <\/span><\/p>\n

V\u00fdskyt TCS<\/strong> je v\u00a0celosv\u011btov\u00e9m m\u011b\u0159\u00edtku <\/span>1:50 000<\/span><\/strong> (1 narozen\u00e9 d\u00edt\u011b s\u00a0TCS na 50\u00a0000 narozen\u00fdch d\u011bt\u00ed. V\u00a0\u010cesk\u00e9 republice<\/strong> na 10 milion\u016f obyvatel se m\u016f\u017ee vyskytovat a\u017e 200 jedinc\u016f s\u00a0TCS<\/strong>. <\/span>Ve \u0160v\u00fdcarsku<\/span> bylo <\/span>v\u00a0roce 2007<\/span> evidov\u00e1no na 8 milion\u016f obyvatel cca <\/span>300 posti\u017een\u00fdch lid\u00ed.<\/span><\/p>\n

V\u00a0tabulce je podrobn\u00e1 genov\u00e1 mutace u TCS. <\/span>Mutace <\/span>m\u016f\u017ee b\u00fdt lokalizovan\u00e1 na <\/span>5., 6. nebo 13. chromozomu<\/strong>.<\/span> Mutace se m\u016f\u017ee t\u00fdkat minim\u00e1ln\u011b <\/span>13 gen\u016f<\/span><\/strong>. P\u0159esnou genetickou diagn\u00f3zu v\u00e1m potvrd\u00ed pracovi\u0161t\u011b l\u00e9ka\u0159sk\u00e9 genetiky.<\/span><\/p>\n

Tab: <\/span>Typy genov\u00e9 mutace u TCS<\/i><\/span> (http:\/\/omim.org\/<\/a>)<\/span><\/strong><\/p>\n\n\n\n\n<\/colgroup>\n\n\n\n\n\n
\n

Lokace<\/span><\/strong><\/p>\n<\/td>\n

\n

Fenotyp<\/span><\/strong><\/p>\n<\/td>\n

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Gen\/Lokus<\/span><\/strong><\/p>\n<\/td>\n<\/tr>\n

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5q32<\/span><\/span><\/span><\/span><\/a><\/strong><\/p>\n<\/td>\n

\n

Treacher Collins syndrome 1<\/span><\/span><\/span><\/span><\/a><\/strong><\/p>\n<\/td>\n

\n

TCOF1, MFD1, TCS1<\/span><\/span><\/span><\/span><\/a><\/strong><\/p>\n<\/td>\n<\/tr>\n

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6p21.1<\/span><\/span><\/span><\/span><\/a><\/strong><\/p>\n<\/td>\n

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Treacher Collins syndrome 3<\/span><\/span><\/span><\/span><\/a><\/strong><\/p>\n<\/td>\n

\n

POLR1C, RPA39, RPA40, RPAC1, RPA5, TCS3<\/span><\/span><\/span><\/span><\/a><\/strong><\/p>\n<\/td>\n<\/tr>\n

\n

13q12.2<\/span><\/span><\/span><\/span><\/a><\/strong><\/p>\n<\/td>\n

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Treacher Collins syndrome 3<\/span><\/span><\/span><\/span><\/a><\/strong><\/p>\n<\/td>\n

\n

POLR1D, RPA16, RPAC2, TCS2<\/span><\/span><\/span><\/span><\/a><\/strong><\/p>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

Symptomy<\/span><\/strong><\/p>\n

Tento syndrom se t\u00fdk\u00e1 z\u00a0v\u011bt\u0161\u00ed \u010d\u00e1sti pouze posti\u017een\u00ed <\/span>v\u00a0obli\u010dejov\u00e9 \u010d\u00e1sti<\/span>. U n\u011bkter\u00fdch jedinc\u016f jsou symptomy nepatrn\u00e9, t\u00e9m\u011b\u0159 neviditeln\u00e9. N\u011bkter\u00e9 narozen\u00e9 d\u011bti s\u00a0t\u00edmto syndromem jsou v\u00a0ohro\u017een\u00ed \u017eivota z\u00a0d\u016fvodu pot\u00ed\u017e\u00ed s\u00a0d\u00fdch\u00e1n\u00edm a p\u0159\u00edjmem potravy \u2013 p\u0159\u00ed\u010dinami jsou oboustrann\u00fd roz\u0161t\u011bp rtu, patra a \u010delisti. Na sv\u011bt\u011b je zn\u00e1m\u00e1 dnes ji\u017e 11 ti let\u00e1 <\/span>Juliana Wetmore<\/span><\/strong> s\u00a0nejt\u011b\u017e\u0161\u00edm posti\u017een\u00edm TCS. Chyb\u00ed j\u00ed 40 % kost\u00ed v\u00a0obli\u010deji. Od sv\u00e9ho narozen\u00ed prod\u011blala ji\u017e <\/span>45 operac\u00ed. <\/span><\/p>\n

Nej\u010dast\u011bj\u0161\u00ed projevy TCS:<\/span><\/strong><\/p>\n