Waardenburg maʻi pale: symptoms, ke kumu, 'ano o ka hooilina

Kekahi o nā pūʻulu o ka maʻi i congenital abnormalities. Ma ka hapanui o na hihia, he mea hiki ole ke pale ia. About mau Hawaii ike ma hope o ka hanau ana o ke keiki. Aaiaoe maʻi i wehewehe aku e kekahi mau hoike ana. Ma ka hapanui o hoopii, ia mea mā o ka na nā loko, a mawaho anomalies. Kekahi o ka congenital abnormalities o Waardenburg maʻi pale. Ua loaʻa i ke ano hiʻona i maopopo ia mai nā aaiaoe mā. Mau nā: poho lohe, okoa ke kala mau maka, i ka hana i ho'ākāka 'ano o nā mea maʻi. Ua pono keia hookolokolo ana ma kekahi mau hoʻomalu no kaʻike, o keia maʻi.

He aha ka Waardenburg maʻi pale?

Ka maʻi mea,ʻaʻole he pohihihi keia aaiaoe mā. Ka awelika maʻi mea hiki wale mai i 1 i ka 4,000 nā pēpē. Waardenburg maʻi pale ua mahuʻi mua ma ka kakahiaka nui elemakule, e like me kona mau papa kuhikuhiE hoike ana i kona ano me ke keiki a lohe poho conspicuous a me ka hana. Ua hōʻike i ka maʻi i loko o ka hapalua like-iwakalua kenekulia. Aʻu i ike ai i keia aaiaoe pathology ophthalmologist mai France Waardenburg. He aʻo i ka pae ana o na keiki i i malama hiʻona e like me Helene holoʻokoʻa, ao alohilohi i maka waihoʻoluʻu (i loko o kekahi mau hihia - 'okoʻa) a me ka pepeiao kuli. Eia hou, i ka maʻi pale he nui no hoi na hoike ana, no ka hui malu pu ana o ka i hiki oko a.

I ka maʻi ua diagnosed i kaikamahine, a keikikane. Ka mea hiki wale mai o ka maʻi mea,ʻaʻole i hōʻikeʻia e ka wahine a me ka Lāhui. Ka pilikia o ka ulu i kēia maʻi maoli he ikaika i loko o ke alo o ka aaiaoe abnormality i loko o kekahi mai o ka 'ohana. Currently, loaʻa nō kekahi mau 'ano o Waardenburg maʻi pale. Ke kumu o aaiaoe loli i Mea Maluna.

Nā kumu o ka maʻi ulu

Kekahi o ka kŘpa nei ike congenital mai noʻonoʻo Waardenburg maʻi pale. ʻano o ka'āina hoʻoili o ka pathological Hawaii - autosomal Hoʻohaku. Kēia hoʻohuʻu He kiʻekiʻe pilikia o ka EYI o ka hemahema nā'ōewe mai nā mākua i nā keiki. Manawa kūpono a loaʻa maila iā ia i ka maʻi, he 50%. Ke kumu no ka hooulu ana i ka maʻi i manaoia e e mutations i loko o kekahi mau nā'ōewe. Kekahi o ia mea kuleana no ka ho okumu ana o melanocytes - pigment keena. Mutations o keia'ōewe i kuleana no ka hana maka waihoʻoluʻu a me ka getehromiyu (kekahi i hookohu aku i irises).

I kekahi manawa, i ka maʻi ua me ka ohana mōʻaukala i pili. Ma ia ano hihia, he mea hiki ole i ka olelo, no kekahi mau kumu, kekahi aaiaoe hoʻoponopono. Ka mea i ikeia e ana ma ka utero. 'Ākena Makaʻu nā infectious maʻi i kupu mai i hāpai keiki. Nō hoʻi, no ka mea, i ia hopena stress, lāʻau intoxication, heʻinoʻano, a laila, ma luna o. D.

ʻano likeʻole pathological ano

Hoomaopopo 4 'ano o Waardenburg maʻi pale. Ka mea, e hoʻolaha, e like me keʻano a me ka ano o ka'āina hoʻoili o ka aaiaoe kāna hana. ka muaʻano o ka maʻi ia lŘlŘ loa pinepine. Ua Ua wehewehe aku ma ka mutation MITF a me ka Pax3'ōewe, Aia i loko o ka lua o ka chromosome. Ano o ka hooilina - autosomal Hoʻohaku. Pax3'ōewe kuleana no? Iecaianoaaiiuo o ka Ekolu a ololi, a ma ka huli hoʻi i ka poʻe Polenekia o neural nalu keena.

I ka lua o kaʻano o Waardenburg maʻi pale ua malama i loko o 20-25% o ka hihia. Pathological nā'ōewe i ke aupuni 'o chromosome 3 a me 8. Ka mua - ua komo i loko o ke kahua o ka pigment keena. Lua - kuleana no ka helu kuʻina kumumea ho'ā 'ia paha EKOLU o nā polokina.

Ke kolu o kaʻano o ka maʻi o ka haunaele Pax3'ōewe. Kēiaʻano o ka maʻi, he okoa ka oolea. Akä naÿe i ke 'ano mua, mutated'ōewe mea,ʻaʻole ma ka hetero- a me ka homozygous. I kekahi manawa, ia ia i kekahi nonsense mutation.

I ka ha o kaʻano o ka maʻi ua wehewehe aku ma autosomal recessive hooilina. Ka pilikia o ka maʻi EYI o 25%. Ka hemahema'ōewe ua ke aupuni 'o chromosome 13. Ua ua komo i loko o ke kahua o ke kumuʻiʻo endothelin-B.

Waardenburg maʻi pale: symptoms

Hoomaopopo nui a me ka uuku pathology ana hoʻohālike. Mua i loaʻa i loko o ka hapa nui o ka hihia. Mau nā:

1. Heterochromia. People me kekahi maka kala like 'ole, ma kahi o 1% o ka heluna honua heluna kanaka. Heterochromia ole mau pili me ka pathological syndromes.
2. Ke pohupani hale o ka pahale maka kihi. Oia ka kŰia ua kapaia "telekant".
3. Bright uliuli kala like 'ole o ka iris.
4. Ke alo tuft o oho hina.
5. Palahalaha nasal alahaka.
6. Haʻi lohe poho i loko o kekahi mau hihia - pepeiao kuli.
7. Small huliāmahi o ka waenakonu hapa o ka lehalehu t iwipoo.
8. Ka hui malu pu ana o kēia mau symptoms me Hirschsprung ka maʻi. Kēia pathology Ua wehewehe aku e hoʻopōʻino intestinal innervation wahi.

No ka liʻiliʻi nā koi a ke komo i loko o keʻano o nā symptoms. Iwaena o lakou manamana lima contractures, ka splitting o ka spinal kolamu, syndactyly, ili loli (alo aku o ka helu nui o ka iole, leucoderma). Pinepine ia hypoplasia o nā'ēheu o ka ihu, a hoemi i ke kuʻemaka. maka Oia ka AEI ua haawi ia ia e like me "Greek holoʻokoʻa." Kekahi hoʻomanawanui iki mai i mā e like me "mauae kīleo" a me "mauae lehelehe".

ʻike, o congenital anomalies

People me kekahi maka kala like 'ole e pohihihi, akā, i kēia symptom mea i mau hōʻike no ke aaiaoe maʻi. Inā ia i PAaIEN ua hui me ka lohe poho a me na ano hiʻona o ka paia waho, i ke alo o Waardenburg maʻi pale hoʻoneʻe 'ia paha. E hoʻokūpaʻa i kaʻike,, e noi mai ana i akamai aʻo. OAXA nana otolaryngologist, ophthalmologist, dermatologist. He nui e loaʻa mai i kaʻohana mōʻaukala. E hoʻokūpaʻa i kaʻike, i hoʻokō aaiaoe noiʻi. Ma hope o ka mea, ua waiho ina he Waardenburg maʻi pale. i ka nui o ke akamai ma nā mea maʻi - maʻamau. Heʻokoʻa ma mua o ka maʻi ma luna o na mea he nui 'ē aʻe hereditary kāna hana.

Waardenburg maʻi pale iapaau ana

E like me nā chromosomal maʻi etiotrop lapaʻau Waardenburg maʻi pale hakuʻole. Hana o kauka pahuna ma ke kāpaeʻana maʻi symptoms. Lawelawe 'ia e pale aku pepeiao kuli implantation o cochlear i hoʻomākaukauʻia. Inā hui pathology me Hirschsprung ka maʻi, e noi mai anaʻoki lāʻau lapaʻau 'uao ma luna o ka naʻau liʻiliʻi. Ma kekahi mau hihia, i hoakaka ia physiotherapy. I kekahi manawa, loaʻa nō eaʻoki kino ma luna o kona wahi maka.

Kāohiʻana o aaiaoe maʻi pale

Ka pahiki i Waardenburg maʻi pale e hoʻomōhala ana i loko o ke keiki me ka maʻi kekahi o na makua mea loa kiʻekiʻe. No laila, i hāpai keiki hana aaiaoe ikea ai o ka fetus. He mea pono i loko o ka hihia o ka ohana mōʻaukala.

Inā keia maʻi ma ka hoahanau ia i malama, hiki ole ole i ka hooulu ana o ka maʻi. No ka mea Kāohiʻana o aaiaoe kāna hana i ka manao e pale aku stress a me ka 'ē aʻe i loaʻa teratogenic loa. Ke prognosis no ke ola i loko o keia kulana e maikaʻi.