Ataxia - telangiectasia

ʻO Ataxia-telangiectasia kahi maʻi kamaliʻi liʻiliʻi. Hoʻopili ia i ka lolo a me nā ʻāpana ʻē aʻe o ke kino.

Hōʻike ʻo Ataxia i nā neʻe ʻole i hoʻohui ʻia, e like me ka hele wāwae. Telangiectasias hoʻonui ʻia nā moku koko (capillaries) ma lalo pono o ka ʻili. ʻIke ʻia ʻo Telangiectasias ma ke ʻano he ʻāpana liʻiliʻi, ʻulaʻula, pūnawelewele.

Hoʻoilina ʻo Ataxia-telangiectasia. ʻO kēia ke kumu i hoʻoili ʻia i waena o nā ʻohana. He ʻano resesive autosomal ia. Pono nā mākua ʻelua e hāʻawi i kahi kope o kahi ʻaoʻao hana ʻole no ke keiki e loaʻa ai nā ʻōuli o ka maʻi.

Loaʻa ka maʻi mai kahi hoʻololi i ka ATM ʻāpana Hāʻawi kēia gen i nā ʻōkuhi no ka hana ʻana i kahi protein i kōkua i ka mālama ʻana i ka helu o nā aʻa e ulu a māhele ai. Hiki i nā kīnā i kēia gen ke alakaʻi i ka make ʻana o ka cell maʻamau a puni ke kino, me ka ʻāpana o ka lolo e kōkua ai i ka hoʻohui ʻana i ka neʻe.

Hoʻopili like ʻia nā keikikāne a me nā kaikamahine.

ʻO nā hōʻailona me:

• Hoʻoemi i ka hoʻonohonoho ʻana o nā neʻe (ataxia) i ka hopena o ke kamaliʻi hiki ke hoʻopili ʻia i ke kiʻi maʻamau (cerebellar ataxia), hele a hele a kū ʻole hoʻi.
• Ke hōʻemi nei i ka ulu ʻana o ka noʻonoʻo, lohi a kū paha ma hope o ka makahiki 10 a 12
• Hele lohi
• ʻIke ʻia o nā ʻili i hōʻike ʻia i ka lā
• ʻO ka ʻili o ka ʻili (kope-me-nā wai aniani kala)
• Hoʻonui i nā kīʻaha koko i ka ʻili o ka ihu, nā pepeiao, a ma loko o ka kuʻe lima a me ke kuli
• Hoʻonui i nā kīʻaha koko i nā keʻokeʻo o nā maka
• ʻO Jerky a i ʻole neʻe neʻe ʻana o ka maka (nystagmus) i ka hopena o ka maʻi
• Hinahina premature o ka lauoho
• Ka hopu ʻana i nā maʻi
• ʻIke i ka radiation, me x-ray
• ʻO nā maʻi hanu koʻikoʻi e hoʻi hou (hoʻi hou)

E hana ka mea mālama ola i kahi hoʻokolohua kino. Hōʻike paha ke hōʻike i nā hōʻailona o kēia mau mea:

• Tonsils, lymph nodes, a me nā spleen ma lalo o ka nui maʻamau
• Hoʻoemi i ke alo o nā tendon reflexes hohonu
• Hoʻolālā a haʻalele paha i ke kino a me ka hoʻomohala ʻana
• Hewa ulu
• Maka helehelena mask-like
• Hoʻololi i nā kala o ka ʻili a me nā ʻano

ʻO nā hoʻokolohua hiki ke hoʻopili ʻia:

• ʻO Fetoprotein Alpha
• Pākuʻi pūnaewele ʻo B a me T
• Antigen Carcinoembryonic
• ʻO ka hoʻāʻo genetic e nānā no ka hoʻololi ʻana i ka gen ATM
• ʻO ka hoʻāʻo ahonui Glucose
• Nā pae immunoglobulin serum (IgE, IgA)
• ʻO nā kukuna X e nānā i ka nui o ke kelepaʻi thymus

ʻAʻohe mālama kūikawā no ka ataxia-telangiectasia. Kuhikuhi ʻia ka lapaʻau ʻana ma nā hōʻailona kikoʻī.

Pāhana Kamaliʻi Ataxia Telangiectasia: www.atcp.org

National Ataxia Foundation (NAF): ataxia.org

Maʻamau ka make mua, akā ʻokoʻa ka manaʻolana o ke ola.

Ma muli o ka makaʻala loa o ka poʻe me kēia ʻano i ka pāhawewe, ʻaʻole pono lākou e hāʻawi ʻia i ka radiation radiation, a ʻaʻole pono e hana i nā kukuna x pono ʻole.

Komo pū nā pilikia:

• Ka maʻi ʻaʻai, e like me lymphoma
• Diabetes
• Kyphosis
• ʻO ka maʻi neʻe holomua e alakaʻi i ka hoʻohana noho huila
• Scoliosis
• Nā maʻi maʻi māmā, hoʻi hou

Kāhea i kāu mea hāʻawi inā ulu kāu keiki i nā ʻōuli o kēia maʻi.

ʻO nā kāne me ka moʻolelo ʻohana o kēia ʻano e noʻonoʻo nei i ka hāpai ʻana e noʻonoʻo paha i ka ʻōlelo aʻo kūpuna.

Hiki paha i nā mākua o kahi keiki me kēia maʻi ke hoʻonui iki i ka makaʻu no ka maʻi ʻaʻai. Pono lākou i nā ʻōlelo aʻoaʻo kūlohelohe a hoʻonui i nā kānana kanesa.

Louis-Bar maʻi maʻi

• Nā Antibodies
• Telangiectasia

ʻO Gatti R, Perlman S. Ataxia-telangiectasia. Nā Manaʻo GeneReview. 2016. PMID: 20301790 www.ncbi.nlm.nih.gov/pubmed/20301790. Hoʻohou ʻia ʻOkakopa 27, 2016. Loaʻa iā Iulai 30, 2019.

ʻO Martin KL. Nā maʻi kīnā ʻole.I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 669.

ʻO Varma R, ʻo Williams SD. Neurology. I: Zitelli BJ, McIntire SC, Nowalk AJ, eds. ʻO Zitelli lāua ʻo Davis 'Atlas o ka Pediatric Diagnosis. ʻEpekema 7 Piladelapia, PA: Elsevier; 2018: chap 16.