"Pourov\u00E1, Radka" . "Kabelka, Zden\u011Bk" . "Dvo\u0159\u00E1kov\u00E1, Marcela" . "RIV/00064203:_____/11:7236" . "Katra, Rami" . . "Pendred syndrome in the Czech Republic"@en . "2" . "Jelinkova, H." . "Pendred\u016Fv syndrom v \u010Cesk\u00E9 republice"@cs . . "[49CBC5F8BBC5]" . . . "9"^^ . "Pendred\u016Fv syndrom v \u010Cesk\u00E9 republice" . "219850" . . . . "1210-7867" . . "Pendred\u016Fv syndrom v \u010Cesk\u00E9 republice"@cs . . . "Astl, Jarom\u00EDr" . . . . "Otorinolaryngologie a foniatrie" . "Dyshormonogenesis; EVA syndrome; Goitre; Mondini dysplasia; PDS; Pendred syndrome; SLC26A4gene"@en . . "Pendred syndrome in the Czech Republic"@en . . "I" . . "7"^^ . "Pendred syndrome (PS, OMIM #274600) is an autosomal recessive genetic disease, which becomes manifest in a combination of sensoric-neural deafness and dyshormonogenetic goitre. In the PS we frequently encounter abnormal formation of inner ear structures \u2013 enlarged vestibular aqueduct (EVA) and/or Mondini dysplasia (MD). PS is caused by mutations in the SLC26A4 gene (called also PDS gene, OMIM *605646), which encodes the anion transporter pendrin, expressed especially in thyroid gland and the inner ear. Pendrin in the thyroid gland is localized on the apical pole of thyreocytes. Its main function is the transport of iodine into colloids in follicle lumen, where it is subsequently bound to organic molecules. The affection of thyroid gland in the Pendred syndrome becomes manifest mostly in the second decade of life under the picture of euthyroid and hypothyroid goitre, rarely there is dyshormogenesis at birth and the disease is then diagnosed in the newborn screening for congenital hypothyreosis. The mutation in the SLC26A4 gene causes also a non-syndrome hearing loss associated with EVA (formerly called DFNB4, OMIM #600791). Only recently the digenetic heredity has been established \u2013 mutation in the SLC26A4 gene in combination with a mutation in the FOXI1 gene (OMIM *601093) or KCNJ10 gene (OMIM *602208). PS represents the most frequent syndrome deafness and the SLC26A4 gene is apparently the second most frequent gene responsible for AR non-syndrome hearing loss (after GJB2 gene for Connexin 26, which is responsible for 40% of AR non-syndrome hearing loss). A recently undertake study in the Czech Republic confirmed mutation in the SLC26A4 gene in 8.5% of predominantly child patients with inborn hearing loss; however only less than 27% of these children displayed a completely expressed PS (after puberty in all of them)."@en . "CZ - \u010Cesk\u00E1 republika" . "http://www.medvik.cz/link/bmc11031692" . . . . . "Pendred\u016Fv syndrom (PS, OMIM #274600) je autosom\u00E1ln\u011B recesivn\u011B d\u011Bdi\u010Dn\u00E9 onemocn\u011Bn\u00ED, projevuj\u00EDc\u00ED se kombinac\u00ED senzorineur\u00E1ln\u00ED hluchoty a dyshormonogenetick\u00E9 strumy. U PS pravideln\u011B nal\u00E9z\u00E1me abnorm\u00E1ln\u00ED utv\u00E1\u0159en\u00ED struktur vnit\u0159n\u00EDho ucha \u2013 roz\u0161\u00ED\u0159en\u00FD vestibul\u00E1rn\u00ED akvadukt (EVA, Enlarged Vestibular Aqueduct) a/nebo Mondiniho dysplazii (MD). PS je zp\u016Fsoben mutacemi v genu SLC26A4 (naz\u00FDvan\u00FD tak\u00E9 PDS gen, OMIM *605646), kter\u00FD k\u00F3duje aniontov\u00FD transport\u00E9r pendrin, exprimovan\u00FD hlavn\u011B ve \u0161t\u00EDtn\u00E9 \u017El\u00E1ze a vnit\u0159n\u00EDm uchu. Pendrin ve \u0161t\u00EDtn\u00E9 \u017El\u00E1ze je lokalizov\u00E1n na apik\u00E1ln\u00EDm p\u00F3lu tyreocyt\u016F. Jeho hlavn\u00ED funkc\u00ED je p\u0159enos jodu z tyreocyt\u016F do koloid\u016F v lumen folikul\u016F, kde je n\u00E1sledn\u011B jodid organifikov\u00E1n. Posti\u017Een\u00ED \u0161t\u00EDtn\u00E9 \u017El\u00E1zy u Pendredova syndromu se manifestuje nej\u010Dast\u011Bji ve druh\u00E9 dek\u00E1d\u011B \u017Eivota pod obrazem eutyroidn\u00ED nebo hypotyroidn\u00ED strumy, vz\u00E1cn\u011B se projev\u00ED dyshormonogeneze ji\u017E p\u0159i narozen\u00ED a onemocn\u011Bn\u00ED je pak diagnostikov\u00E1no novorozeneck\u00FDm screeningem pro kongenit\u00E1ln\u00ED hypotyre\u00F3zu. Mutace v genu SLC26A4 zp\u016Fsobuj\u00ED krom\u011B PS tak\u00E9 nesyndromovou ztr\u00E1tu sluchu spojenou s EVA (d\u0159\u00EDve naz\u00FDvan\u00E1 DFNB4, OMIM #600791). Ned\u00E1vno byla u t\u011Bchto chorob prok\u00E1z\u00E1na i digenick\u00E1 d\u011Bdi\u010Dnost \u2013 mutace v genu SLC26A4 v kombinaci s mutac\u00ED v genu FOXI1 (OMIM *601093) nebo genu KCNJ10 (OMIM *602208). PS je nej\u010Dast\u011Bj\u0161\u00ED syndromovou hluchotou a gen SLC26A4 je z\u0159ejm\u011B druh\u00FDm nej\u010Dast\u011Bj\u0161\u00EDm genem zodpov\u011Bdn\u00FDm za AR nesyndromovou ztr\u00E1tu sluchu (po genu GJB2 pro Connexin 26, kter\u00FD je zodpov\u011Bdn\u00FD a\u017E za 40% AR nesyndromov\u00E9 ztr\u00E1ty sluchu). V \u010CR ned\u00E1vno prob\u011Bhla studie, kter\u00E1 potvrdila mutace v genu SLC26A4 u 8,5 % p\u0159ev\u00E1\u017En\u011B d\u011Btsk\u00FDch pacient\u016F s vrozenou ztr\u00E1tou sluchu, ale jen m\u00E9n\u011B ne\u017E 27 % z nich m\u011Blo kompletn\u011B vyj\u00E1d\u0159en\u00FD PS (v\u0161ichni postpubert\u00E1ln\u011B). D\u00EDky molekul\u00E1rn\u011B genetick\u00E9mu vy\u0161et\u0159en\u00ED je tedy mo\u017En\u00E9 u pacient\u016F s vysokou pravd\u011Bpodobnost\u00ED p\u0159edpov\u011Bd\u011Bt rozvoj poruchy \u0161t\u00EDtn\u00E9 \u017El\u00E1zy a v\u010Dasn\u00FDm z\u00E1sahem p\u0159edej\u00EDt rozvoji strumy. Vy\u0161et\u0159en\u00ED genu SLC26A4 je nov\u011B dostupn\u00E9 i v \u010CR."@cs . "6"^^ . . "60" . . . "RIV/00064203:_____/11:7236!RIV12-MZ0-00064203" . . "Pendred\u016Fv syndrom v \u010Cesk\u00E9 republice" . "Dytrych, Petra" . "Pendred\u016Fv syndrom (PS, OMIM #274600) je autosom\u00E1ln\u011B recesivn\u011B d\u011Bdi\u010Dn\u00E9 onemocn\u011Bn\u00ED, projevuj\u00EDc\u00ED se kombinac\u00ED senzorineur\u00E1ln\u00ED hluchoty a dyshormonogenetick\u00E9 strumy. U PS pravideln\u011B nal\u00E9z\u00E1me abnorm\u00E1ln\u00ED utv\u00E1\u0159en\u00ED struktur vnit\u0159n\u00EDho ucha \u2013 roz\u0161\u00ED\u0159en\u00FD vestibul\u00E1rn\u00ED akvadukt (EVA, Enlarged Vestibular Aqueduct) a/nebo Mondiniho dysplazii (MD). PS je zp\u016Fsoben mutacemi v genu SLC26A4 (naz\u00FDvan\u00FD tak\u00E9 PDS gen, OMIM *605646), kter\u00FD k\u00F3duje aniontov\u00FD transport\u00E9r pendrin, exprimovan\u00FD hlavn\u011B ve \u0161t\u00EDtn\u00E9 \u017El\u00E1ze a vnit\u0159n\u00EDm uchu. Pendrin ve \u0161t\u00EDtn\u00E9 \u017El\u00E1ze je lokalizov\u00E1n na apik\u00E1ln\u00EDm p\u00F3lu tyreocyt\u016F. Jeho hlavn\u00ED funkc\u00ED je p\u0159enos jodu z tyreocyt\u016F do koloid\u016F v lumen folikul\u016F, kde je n\u00E1sledn\u011B jodid organifikov\u00E1n. Posti\u017Een\u00ED \u0161t\u00EDtn\u00E9 \u017El\u00E1zy u Pendredova syndromu se manifestuje nej\u010Dast\u011Bji ve druh\u00E9 dek\u00E1d\u011B \u017Eivota pod obrazem eutyroidn\u00ED nebo hypotyroidn\u00ED strumy, vz\u00E1cn\u011B se projev\u00ED dyshormonogeneze ji\u017E p\u0159i narozen\u00ED a onemocn\u011Bn\u00ED je pak diagnostikov\u00E1no novorozeneck\u00FDm screeningem pro kongenit\u00E1ln\u00ED hypotyre\u00F3zu. Mutace v genu SLC26A4 zp\u016Fsobuj\u00ED krom\u011B PS tak\u00E9 nesyndromovou ztr\u00E1tu sluchu spojenou s EVA (d\u0159\u00EDve naz\u00FDvan\u00E1 DFNB4, OMIM #600791). Ned\u00E1vno byla u t\u011Bchto chorob prok\u00E1z\u00E1na i digenick\u00E1 d\u011Bdi\u010Dnost \u2013 mutace v genu SLC26A4 v kombinaci s mutac\u00ED v genu FOXI1 (OMIM *601093) nebo genu KCNJ10 (OMIM *602208). PS je nej\u010Dast\u011Bj\u0161\u00ED syndromovou hluchotou a gen SLC26A4 je z\u0159ejm\u011B druh\u00FDm nej\u010Dast\u011Bj\u0161\u00EDm genem zodpov\u011Bdn\u00FDm za AR nesyndromovou ztr\u00E1tu sluchu (po genu GJB2 pro Connexin 26, kter\u00FD je zodpov\u011Bdn\u00FD a\u017E za 40% AR nesyndromov\u00E9 ztr\u00E1ty sluchu). V \u010CR ned\u00E1vno prob\u011Bhla studie, kter\u00E1 potvrdila mutace v genu SLC26A4 u 8,5 % p\u0159ev\u00E1\u017En\u011B d\u011Btsk\u00FDch pacient\u016F s vrozenou ztr\u00E1tou sluchu, ale jen m\u00E9n\u011B ne\u017E 27 % z nich m\u011Blo kompletn\u011B vyj\u00E1d\u0159en\u00FD PS (v\u0161ichni postpubert\u00E1ln\u011B). D\u00EDky molekul\u00E1rn\u011B genetick\u00E9mu vy\u0161et\u0159en\u00ED je tedy mo\u017En\u00E9 u pacient\u016F s vysokou pravd\u011Bpodobnost\u00ED p\u0159edpov\u011Bd\u011Bt rozvoj poruchy \u0161t\u00EDtn\u00E9 \u017El\u00E1zy a v\u010Dasn\u00FDm z\u00E1sahem p\u0159edej\u00EDt rozvoji strumy. Vy\u0161et\u0159en\u00ED genu SLC26A4 je nov\u011B dostupn\u00E9 i v \u010CR." .