Waardenburg ciwo: cututtuka, yana sa, irin gado

Daya daga cikin kungiyoyin da cututtuka ne nakasar munanan. A mafi yawan lokuta, ba shi yiwuwa su hana su. Game da wadannan jihohi gane bayan haihuwar jariri. Kwayoyin cututtuka ne halin da daban-daban manifestations. A mafi yawan lokuta, shi ne lahani na kayan ciki da waje anomalies. Daya daga cikin nakasar munanan ne Waardenburg ciwo. Yana yana da halayyar siffofin da cewa rarrabe shi daga sauran kwayoyin lahani. Wadannan sun hada da: ji hasara, daban-daban launi da idanu, da takamaiman bayyanar marasa lafiya. Yana bukatar jarrabawa da dama da kwararru ga ganewar asali da wannan cuta.

Mene ne Waardenburg ciwo?

Da cutar ba a rare kayyade lahani. A talakawan cuta ya faru ne 1 a 4,000 jarirai. Waardenburg ciwo ne da ake zargi a wani wuri shekaru, kamar yadda ya main bayyananen ne kama hankali da kuma sabon abu bayyanar jariri ji hasara. Cutar da aka bayyana a cikin tsakiyar karni na ashirin. Na gano wannan kayyade Pathology ophthalmologist daga Faransa Waardenburg. Ya yi karatu a rukuni na yara wanda aka lura fasali kamar Greek profile, mai haske ido launi (a wasu lokuta - daban-daban) wani nauyi. Bugu da kari, da ciwo yana da yawa wasu bayyananen, da hade da wanda zai iya bambanta.

The rashin lafiya ne kamu a 'yan mata da yara maza. A abin da ya faru da cuta ne ba related to jinsi da kabilanci. A hadarin tasowa da wannan cuta qara sharply a gaban wani kayyade abnormality a wani daga cikin yan uwa. A halin yanzu, akwai da dama iri Waardenburg ciwo. Dalili na Canjin sa rarrabuwa.

A Sanadin cutar ci gaba

Daya daga cikin in mun gwada kwanan nan gano nakasar cututtuka dauke Waardenburg ciwo. irin gādon pathological jihohin - autosomal rinjaye. Wannan yakan haifar da wani babban hadarin da watsa daga m genes daga iyaye zuwa 'ya'ya. Yiwuwar gadon da cutar ne 50%. Dalilin da ci gaban da cutar suna dauke su maye gurbi a cikin wasu kwayoyin halittu. Daya daga cikinsu shi ne alhakin da samuwar melanocytes - pigment Kwayoyin. Maye gurbi na wannan gene ne alhakin wani sabon abu ido launi da kuma getehromiyu (daban-daban batawa irises).

Wani lokaci da cutar ba a hade tare da iyali tarihi. A irin haka ne, ba shi yiwuwa a ce, saboda wasu dalilai, wani kayyade gyara. An san su da faruwa a utero. Hadarin dalilai sun hada da cututtuka tasowa a lokacin daukar ciki. Har ila yau, dalilin iya zama tasiri danniya, miyagun ƙwayoyi maye, miyagun halaye da sauransu. D.

Iri pathological yanayin

Rarrabe 4 iri Waardenburg ciwo. Suna classified bisa ga irin da yanayi na gado na kwayoyin cuta. na farko irin cuta auku mafi sau da yawa. An halin maye gurbi MITF da Pax3 gene, located in na biyu chromosome. Irin gado - autosomal rinjaye. Pax3 gene alhakin samar da kwafi factor, wanda a nuna iko da hijirarsa da na tsarin jijiya dagi Kwayoyin.

Nau'i na biyu na Waardenburg ciwo ne lura a 20-25% na lokuta. Pathological genes suna located in chromosome 3 da 8. A farko - An hannu a cikin samuwar pigment Kwayoyin. Na biyu - alhakin coding dalilai kunna kwafi na sunadaran.

The uku irin cuta ne tashin hankali Pax3 gene. Wannan irin cuta ne daban-daban mai tsanani. Ya bambanta da farko type, mutated gene ba a hetero- da homozygous. Wani lokaci wannan alama a maganar banza maye gurbi.

A karo na hudu irin na cutar halin autosomal recessive gādo. A hadarin cutar watsa ne 25%. The m gene aka located in chromosome 13. An hannu a cikin samuwar sunadaran endothelin-B.

Waardenburg ciwo: cututtuka

Rarrabe babban kuma kananan Pathology sharudda. Da farko samu a yawancin lokuta. Wadannan sun hada da:

1. Heterochromia. Mutane da daban-daban ido launi, game da 1% na jimlar yawan mutanen duniya. Heterochromia ba ko da yaushe hade da pathological syndromes.
2. Hijirar na ciki ido kusurwa. Irin wannan sabon abu ne ake kira "telekant".
3. Bright blue color na Iris.
4. A gaban tuft na furfura.
5. Broad hanci gada.
6. Furta ji hasara a wasu lokuta - wani nauyi.
7. Kananan rabbai daga cikin tsakiyar ɓangare na gyara man fuska ragargaje.
8. A hade da wadannan cututtuka da Hirschsprung ta cutar. Wannan Pathology ne halin da illa hanji innervation yankin.

Domin kananan sharudda iya hada wani iri-iri cututtuka. Daga cikin su yatsa contractures, tsagawa na kashin baya shafi, syndactyly, fata canje-canje (gaban babban adadin moles, leucoderma). Sau da yawa alama hypoplasia na fikafikan hanci da kuma rage Brow. fuskantar irin wannan wani sanyi ake cewa "Greek profile." Wasu marasa lafiya da lahani kamar "kogon palate" ko "kogon lebe".

Ganewar asali na nakasar anomalies

Mutane da daban-daban ido launi ne m, amma wannan alama ba ko da yaushe nuni da wani kwayoyin cuta. Idan irin wannan nuni ne a hade tare da ji asarar da kuma halayyar fasali na waje, gaban Waardenburg ciwo ne m. Don tabbatar da ganewar asali, bukatar gwani shawara. M dubawa otolaryngologist, ophthalmologist, likitan fata. Yana da muhimmanci a gano da iyali tarihi. Don tabbatar da ganewar asali yi kwayoyin da bincike. Bayan an kafa idan akwai Waardenburg ciwo. matakin m in marasa lafiya - al'ada. Wannan shi ne daban-daban fiye da cutar a wasu hereditary cuta.

Waardenburg Syndrome Jiyya

Kamar yadda da wasu chromosomal cututtuka etiotrop magani Waardenburg ciwo ba ya wanzu. Ayyuka na likitoci da nufin kawar da cutar bayyanar cututtuka. Gudanar da su hana wani nauyi kafawa na cochlear na'ura. Idan Pathology hade tare Hirschsprung ta cuta, bukatar m baki a kan hanji. A wasu lokuta, rubũta physiotherapy. Wani lokaci akwai roba tiyata a kan fuskarsa.

Rigakafin kayyade ciwo

A yiwuwa cewa Waardenburg ciwo tasowa a wani yaro da cutar da daya daga cikin iyaye ne sosai high. Saboda haka, a lokacin daukar ciki yi kwayoyin gwaji da tayin. Wajibi ne a cikin hali na iyali tarihi.

Idan wannan cuta a cikin dangi da aka ba a lura, ba zai iya hana ci gaban cuta. Ga masu rigakafin kwayoyin cuta rika guje wa danniya da kuma sauran abubuwan da suke da teratogenic effects. A hangen nesa domin rayuwa a cikin wannan yanayin ne m.