Waardenburg syndrome: zizindikiro osiyanasiyana, mtundu wa cholowa

Chimodzi mwa magulu a matenda ndi kobadwa nako kuvutika. Nthawi zambiri, sikutheka kuwaletsa. About limati izi anazindikira atabadwa mwana. matenda majini yodziwika ndi mawonetseredwe osiyana. Nthawi zambiri, ndi zilema ziwalo mkati ndi anomalies kunja. Mmodzi wa kuvutika kobadwa nako ndi Waardenburg syndrome. Iwo ali mbali khalidwe limene kuwasiyanitsa ndi zilema zina chibadwa. Zikuphatikizapo: kumva imfa, maso mumtundu, maonekedwe enieni odwala. Pamafunika Kupenda ndi akatswiri angapo matenda a matenda.

Waardenburg syndrome ndi chiyani?

Matendawa si kawirikawiri nthenda ya kumtundu. The matenda pafupifupi zochitika 1 mu 4,000 akhanda. syndrome Waardenburg ndi achifwamba ali aang'ono, monga mawonetseredwe chachikulu ndi aakulu ndi zachilendo maonekedwe khanda kumva imfa. Matendawa limafotokonzera m'ma makumi awiri. Ndinazindikira pamajini kudwala maso ku France Waardenburg. Iye anaphunzira gulu la ana amene anaona zinthu monga mbiri Greek, wowala diso mtundu (zina - osiyana) ndi ugonthi. Komanso, matendawa ali ndi zinthu zina zambiri, kuphatikiza zomwe siyana.

matenda amawapeza atsikana ndi anyamata. Kuchuluka kwa nthendayi si ofanana ndi jenda ndi mtundu. The kudwala matenda ichi kumawonjezera zikuchepa mu pamaso pa chosayenerera maselo a munthu wochokera m'banja. Panopa, pali mitundu ingapo ya matenda Waardenburg. Chifukwa cha kusintha chibadwa kuyika gulu.

Zimayambitsa chitukuko matenda

Mmodzi wa ndi apeza matenda kobadwa nako ankaona Waardenburg syndrome. mtundu wa cholowa cha limati pathological - autosomal lalikulu. Izi zikutanthauza chiopsezo kufala kwa majini zosalongosoka kwa makolo ndi ana. N'zotheka kulowa matenda ndi 50%. chifukwa chitukuko cha matenda amaonedwa kukhala masinthidwe majini ena. Mmodzi wa iwo ndi udindo mapangidwe melanocytes - maselo pigment. Masinthidwe a mbewu imeneyi ndi udindo yachilendo mtundu diso ndi getehromiyu (osiyana kudetsa irises).

Nthawi zina matenda si kugwirizana ndi mbiri banja. Zikatero, sikutheka kuti, pa zifukwa zina, kusintha kulikonse chibadwa. Amadziwika chidzachitika utero. Zifukwa monga matenda opatsirana akuwuka pa mimba. Komanso, chifukwa mwina nkhawa amadza, kuledzera mankhwala, zizoloŵezi zoipa ndi zina zotero D..

Zosiyanasiyana pathological chikhalidwe

Kusiyanitsa mitundu 4 syndrome Waardenburg. Iwo ali m'magulu malinga ndi mtundu ndi chikhalidwe cha cholowa cha matenda chibadwa. mtundu woyamba wa matenda limapezeka nthawi zambiri. Iwo amakhala ndi kusintha kwa MITF ndi Pax3 jini ili asakhale ndi vutoli chachiwiri. Mtundu wa cholowa - autosomal lalikulu. Pax3 jini udindo kutulutsidwa kwa galamafoniyo chinthu, womwe akulamulira kusamuka maselo ubongo Crest.

Mtundu wachiwiri wa syndrome Waardenburg zimawonedwa mu 20-25% ya milandu. majini Pathological zili khromozomu 3 ndi 8. The choyamba - kumatanthauza mapangidwe maselo pigment. Chachiwiri - udindo wolemba pulogalamu zinthu mphamvu galamafoniyo mapulotini.

Mtundu wachitatu wa matenda ndi chisokonezo Pax3 mbewu. mtundu uwu matenda osiyana mwamphamvu. Mosiyana ndi mtundu woyamba, mutated jini osati hetero- ndi homozygous. Nthawi zina Kunasonyeza zamkhutu kusintha.

Yachinayi matendawa amakhala ndi autosomal cholowa recessive. Chiopsezo kufalitsa matenda ndi 25%. Jini zosalongosoka lili khromozomu 13. Iwo kumatanthauza mapangidwe mapuloteni endothelin-B.

Waardenburg syndrome: zizindikiro

Kusiyanitsa zazikulu ndi zazing'ono i kudwala. Choyamba anapeza mu ambiri a milandu. Njirazi ndi monga:

1. Heterochromia. Anthu ndi osiyana diso mtundu, 1% ya anthu okwana dziko. Heterochromia si nthawi zonse kugwirizana ndi syndromes pathological.
2. The kusamutsidwa kwa mkati diso ngodya. chodabwitsa oterowo amatchedwa "telekant".
3. Bright mtundu buluu wa Iris lapansi.
4. Pamaso tuft wa tsitsi la imvi.
5. Yotakata m'mphuno mlatho.
6. Akadzauzidwa kumva kutayika zina - ugonthi.
7. Small anapangira gawo pakati pa chigaza nkhope.
8. Kuphatikiza zizindikiro ndi matenda Hirschsprung a. kudwala Izi amakhala ndi mkhutu matumbo innervation m'deralo.

Pakuti i zing'onozing'ono monga zizindikiro zosiyanasiyana. Pakati pawo contractures chala, ndi akuwaza la ndime msana, syndactyly, kusintha khungu (pamaso pa ambiri timadontho-timadontho, leucoderma). Nthawi zambiri amalembedwa hypoplasia wa mapiko a mphuno ndi kuchepetsa zikope. maso kasinthidwe woteroyo amatchedwa "mbiri Greek." Odwala ena ali ndi zofooka monga "abadwe" kapena "thanthwe mlomo".

Matenda a anomalies kobadwa nako

Anthu ndi osiyana diso mtundu n'zochepa, koma chizindikiro ichi si nthawi zonse zimasonyeza matenda chibadwa. Ngati chisonyezero pamodzi ndi kumva imfa ndi mbali khalidwe la kunja, ndi pamaso pa syndrome Waardenburg kawirikawiri. Kutsimikiza matenda, amafuna katswiri malangizo. Kuvomerezedwa anayendera otolaryngologist, maso, dermatologist. Nkofunika kudziwa mbiri banja. Kutsimikiza matenda anachita kafukufuku chibadwa. Pambuyo walembedwa ngati Waardenburg syndrome. mlingo wa nzeru odwala - yachibadwa. Izi ndi zosiyana kuposa matenda pa matenda ena ambiri cholowa.

Waardenburg Syndrome Chithandizo

Monga matenda ena opatsirana chromosomal etiotrop chithandizo Waardenburg syndrome kulibe. Zochita za madokotala umalimbana ndi kuthetsa zizindikiro matenda. Kuchitikira kuteteza ugonthi implantation wa cochlear zida. Ngati kudwala pamodzi ndi matenda Hirschsprung a zimafunika alowererepo opaleshoni pa intestine lapansi. Nthawi zina, mankhwala physiotherapy. Nthawi zina pali opaleshoni pulasitiki pa nkhope yake.

Kupewa matenda majini

N'kutheka kuti Waardenburg syndrome akufotokozera mwana ndi matenda kholo limodzi ndi mkulu. Choncho, pa mimba anachita kuyezetsa chibadwa cha mwana wosabadwayo. M'pofunika zinachitikira m'mbiri banja.

Ngati matenda mu achibale silinkachitidwa, sangalepheretse kukula kwa matenda. Pakuti kupewa matenda majini akulangizidwa kupewa maganizo ndi zinthu zina zomwe ndi zotsatira teratogenic. Kuti madokotala ananena zawo moyo mu chikhalidwe ichi bwino.