Waardenburg maʻi

ʻO Waardenburg syndrome kahi hui o nā kūlana i iho ʻia i waena o nā ʻohana. Pili ke kuli i ke kuli a me ka ʻili mae, ka lauoho, a me ke kala o ka maka.

Ua hoʻoilina pinepine ʻia ʻo Waardenburg syndrome ma ke ʻano he mana autosomal. Kēia mea hoʻokahi wale nō makua e hele i ka hewa gen no ke keiki e hoʻopilikia ʻia.

ʻEhā ʻano nui o Waardenburg Syndrome. ʻO ka maʻamau ka ʻano I a me ka ʻano II.

ʻAno rarer ʻo ka Type III (Klein-Waardenburg syndrome) a me ke ʻano IV (Waardenburg-Shah syndrome).

ʻO nā ʻano he nui o kēia maʻi ka hopena mai nā hemahema i nā ʻāpana like ʻole. ʻO ka hapa nui o ka poʻe me kēia maʻi he makua me ka maʻi, akā ʻo nā ʻōuli i ka makua hiki ke ʻokoʻa ʻokoʻa i nā keiki.

Pākuʻi ʻia paha nā ʻōuli:

• Lip lehelehe (laha ʻole)
• Konipōpō
• Kuli (ʻoi aku ka maʻamau o ka maʻi II)
• ʻO nā maka uliuli ākea a me nā kala o nā maka e kūlike ʻole (heterochromia)
• ʻO kaʻili kala o ka pale, ka lauoho, a me nā maka (albinism hapa)
• ʻO ka paʻakikī hoʻopololei loa ʻana i nā hono
• Hiki ke hoʻemi iki i ka hana naʻauao
• Nā maka ākea (i ke ʻano I)
• Pākuʻi keʻokeʻo o ka lauoho a i ʻole hina hina mua o ka lauoho

Hiki i nā ʻano liʻiliʻi o kēia maʻi ke hana i nā pilikia me nā lima a me nā ʻōpū.

E komo pū paha nā hoʻāʻo:

• Audiometry
• ʻO ka manawa lawe ʻōpū
• ʻO Biopsy Kolone
• Ke hoʻāʻo genetic

ʻAʻohe mālama kūikawā. E mālama ʻia nā ʻōuli e pono ai. ʻO nā papaʻai kūikawā a me nā lāʻau e mālama i ka ʻōpū e hoʻoneʻe ʻia e kauoha ʻia i kēlā mau kānaka i loaʻa i ka constipation. E nānā pono paha ka hoʻolohe ʻana.

I ka manawa e hoʻoponopono ai i nā pilikia lohe, pono ka hapanui o ka poʻe me kēia maʻi e alakaʻi i kahi ola maʻamau. Loaʻa i nā mea me nā ʻano rarer o ka maʻi maʻi i nā pilikia ʻē aʻe.

Komo pū nā pilikia:

• Kūpilikiʻi ka paʻa paʻa e pono ai e hemo kahi hapa o ka ʻōpū nui
• Lohe hoʻolohe
• Nā pilikia pili iā ʻoe iho, a i ʻole nā ​​pilikia ʻē aʻe e pili ana i ka helehelena
• Hoʻemi iki i ka hana naʻau (hiki, ʻano ʻē)

Kōkua paha ka ʻōlelo aʻoaʻo genetic inā he moʻolelo ʻohana kāu no Waardenburg Syndrome a hoʻolālā e loaʻa nā keiki. Kāhea i kāu kahu mālama ola no ka hoʻolohe ʻana inā loaʻa iā ʻoe a i ʻole he kuli paha kāu keiki a i ʻole hoʻemi ʻia ka lohe ʻana.

Klein-Waardenburg maʻi maʻi; Ka maʻi maʻi ʻo Waardenburg-Shah

• Alahaka ihu ākea
• ʻIke o ka hoʻolohe

ʻO Cipriano SD, ʻĀpana JJ. Maʻi Neurocutaneous. I: Callen JP, Jorizzo JL, Zone JJ, Piette WW, Rosenbach MA, Vleugels RA, eds. Nā Hōʻailona Dermatological o ka maʻi ʻōnaehana. 5th lā. Piladelapia, PA: Elsevier; 2017: chap 40.

ʻO Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Nā kīnā o ka metabolism o nā amino acid. 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 103.

Milunsky JM. Waardenburg maʻi ʻaʻano I. Nā Manaʻo GeneReview. 2017. PMID: 20301703 www.ncbi.nlm.nih.gov/pubmed/20301703. Hoʻohou ʻia Mei 4, 2017. Loaʻa iā Iulai 31, 2019.