Maʻi maʻi ʻo Williams

ʻO ka maʻi maʻi ʻo Williams kahi maʻi maʻamau e hiki ai ke alakaʻi i nā pilikia me ka ulu ʻana.

Hoʻokumu ʻia ʻo Williams maʻi me ka loaʻa ʻole o kahi kope o 25 a 27 mau ʻāpana ma ka helu chromosome 7.

• I ka hapanui o nā hihia, hoʻololi nā ʻāpana (hoʻololi) i kā lākou iho, a i ʻole ka sperm a i ʻole ka hua manu i hoʻomohala ʻia mai kahi pēpē.
• Eia nō naʻe, ke hāpai nei kekahi i ka loli kūlohelohe, loaʻa i kā lākou keiki he 50% manawa e hoʻoili ai iā ia.

ʻO kekahi o nā genes nalowale ka gen e hana i elastin. ʻO kēia kahi protein e ʻae i nā kīʻaha koko a me nā mea ʻē aʻe i ke kino e hoʻolōʻihi. Maliʻa paha ka nalo ʻana o kahi kope o kēia moʻo i nā hopena o ka hoʻopili ʻana o nā kīʻaha koko, ʻili ākea, a me nā hono maʻalahi i ʻike ʻia i kēia ʻano.

ʻO nā ʻōuli o ka maʻi maʻi ʻo Williams:

• Nā pilikia hānai, e like me colic, reflux, a me ka luaʻi
• Kulou o loko o ka manamana liʻiliʻi
  
• Pahu poho
• Nā pilikia o ka naʻau a i ʻole nā ​​kīʻaha koko
  
• Hoʻolālā hoʻomohala, akahai a haʻahaʻa i ke kīnā ʻole o ka naʻau, nā maʻi aʻo
• ʻO ka lohi o ka haʻiʻōlelo ʻana e lilo paha i hiki i ka hiki ke ʻōlelo ikaika a me ke aʻo ikaika ʻana ma ka hoʻolohe ʻana
  
• Hoʻoweliweli maʻalahi, ʻike i ka maʻi hyperactivity deficit (ADHD)
• ʻO ke ʻano pilikino me ke aloha nui, hilinaʻi i nā malihini, makaʻu i nā leo nui a i ʻole ke pili kino ʻana, a me ka hoihoi i nā mele
• Pōkole, hoʻohālikelike ʻia me ke koena o ka ʻohana o ke kanaka

Hōʻike ka maka a me ka waha o kekahi me ka maʻi maʻi Williams.

• ʻO kahi alahaka ihu i pālahalaha ʻia me ka ihu upturned liʻiliʻi
• Nā kualono lōʻihi i ka ʻili e holo mai ka ihu a i ka lehelehe luna
• ʻO nā lehelehe kaulana me ka waha hāmama
• Ka ʻili e uhi ana i ke kihi o loko o ka maka
• ʻO nā niho nalowale hapa, nā enamel niho kīnā ʻole, a mau niho liʻiliʻi paha

Aia nā hōʻailona me:

• Ka liʻiliʻi o kekahi mau kīʻaha koko
• ʻIke mamao
• Nā pilikia kahua niho, e like me nā niho i ākea ākea
• ʻO ke kiʻekiʻe o ke kōkō kiʻekiʻe e kumu i ka hopu ʻana a me nā mākala paʻa
• Piʻi koko kiʻekiʻe
• Loose ami e hiki ke hoʻololi i ka ʻoʻoleʻa ke hele a makua ke kanaka
• ʻO ke kumu hoʻohālikelike e like me ka hōkū i iris o ka maka

ʻO nā hoʻāʻo no ka maʻi ʻo Williams e komo pū ana:

• ʻIke kaomi koko
• Hōʻike koko no kahi ʻāpana chromosome 7 e nalo ana (hōʻike FISH)
• ʻImi a me nā hoʻokolohua koko no ka pae calcium
• Hoʻohui ʻia ʻo Echocardiography me ka ultrasound ʻo Doppler
• Pākuʻi ultrasound

ʻAʻohe lāʻau lapaʻau no ka maʻi maʻi ʻo Williams. Hōʻalo i ka lawe ʻana i ka calcium a me ka huamine D. E mālama i ke kiʻekiʻe o ke koko inā kū. Hiki ke hōʻemi ʻia ke kīʻaha koko i kahi pilikia olakino nui. Hoʻokumu ʻia ka lapaʻau ma ke ʻano o ka nui.

Kōkua ka lāʻau hoʻoikaika kino no ka poʻe me ka wīwī pū. Hiki ke kōkua i ka hoʻomohala a me ka haʻi ʻōlelo. ʻO kahi laʻana, hiki i ka mākau ʻōlelo ikaika ke kōkua i ka hoʻoponopono ʻana i nā nāwaliwali ʻē aʻe. Hoʻokumu ʻia nā ʻano lāʻau ʻē aʻe i nā ʻōuli o ke kanaka.

Hiki iā ia ke kōkua i ka mālama ʻana me ka genistist i ʻike ʻia me ka maʻi maʻi o Williams.

Hiki ke kōkua i kahi hui kākoʻo no ke kākoʻo naʻau a no ka hāʻawi ʻana a me ka loaʻa ʻana o ka ʻōlelo aʻo kūpono. Hāʻawi ka hui aʻe i nā ʻike hou aʻe e pili ana i ka maʻi maʻi ʻo Williams.

ʻO ka Hui ʻo Syndrome ʻo Williams - williams-syndrome.org

ʻO ka hapa nui o ka poʻe me ka maʻi maʻi Williams.

• Loaʻa i ke kīnā o ka ʻike.
• ʻAʻole e ola lōʻihi e like me ka maʻamau ma muli o nā pilikia olakino like ʻole a me nā pilikia ʻē aʻe.
• Koi i nā mea mālama wā holoʻokoʻa a noho pinepine i nā hale pūʻulu i nānā ʻia.

Komo pū nā pilikia:

• Waiho Calcium i ka hakuʻala a me nā pilikia ʻiʻo ʻē aʻe
• Make (i nā hihia kakaʻikahi mai anesthesia)
• Hewa ka puʻuwai ma muli o ke kīki o nā kīʻaha koko
• ʻEha ma ka ʻōpū

ʻAʻole maopopo ka hapa nui o nā ʻōuli a me nā hōʻailona o ka maʻi maʻi ʻo Williams i ka wā hānau. Kāhea i kāu kahu mālama ola inā loaʻa nā hiʻohiʻona o kāu keiki e like me nā ʻano o Williams syndrome. E ʻimi i nā ʻōlelo aʻoaʻo kūlohelohe inā he moʻolelo ʻohana kāu no ka maʻi maʻi o Williams.

ʻAʻohe ala i ʻike ʻia e pale aku ai i ka pilikia kūpilikiʻi e kumu ai ʻo Williams syndrome. Loaʻa ka hoʻāʻo prenatal no nā kāne me ka moʻolelo ʻohana o ka maʻi maʻi o Williams e makemake nei e hāpai.

Maʻi maʻi ʻo Williams-Beuren; WBS; ʻO ka maʻi Beuren; 7q11.23 holoi i ka maʻi maʻi; ʻO Elfin facies syndrome

• Alahaka ihu haʻahaʻa
• ʻO Chromosome a me DNA

Morris CA. Maʻi maʻi ʻo Williams I: Pagon RA, Adam MP, Ardinger HH, et al, eds. Nā Manaʻo GeneReview. Kulanui o Wakinekona, Seattle, WA. www.ncbi.nlm.nih.gov/books/NBK1249. Hoʻohou ʻia Malaki 23, 2017. Loaʻa iā Nowemapa 5, 2019.

Pūnaewele NLM Genetics Home Reference. Maʻi maʻi ʻo Williams ghr.nlm.nih.gov/condition/williams-syndrome Hoʻohou ʻia Kekemapa 2014. Loaʻa iā Nowemapa 5, 2019.