Maʻi Menkes

ʻO ka maʻi Menkes kahi maʻi hoʻoilina i loaʻa i ke kino ka pilikia e lawe i ka keleawe. Hoʻopili ka maʻi i ka hoʻomohala, nā noʻonoʻo a me ke kino.

Hoʻokumu ʻia ka maʻi Menkes e kahi kīnā i ka ATP7A ʻāpana He mea paʻakikī ka hemahema i ke kino e hāʻawi pono (lawe) i ke keleawe i loko o ke kino. ʻO ka hopena, ʻaʻole lawa ka keleawe i ka lolo a me nā ʻāpana ʻē aʻe o ke kino, ʻoiai e kūkulu ʻia ana i loko o ka ʻōpū liʻiliʻi a me nā puʻupaʻa. Hiki i kahi pae keleawe haʻahaʻa ke hoʻopili i ka hanana o ka iwi, ka ʻili, ka lauoho, a me nā kīʻaha koko, a hoʻopilikia i ka hana nerve.

Hoʻoili pinepine ʻia ka Menkes Syndrome, ʻo ia hoʻi ke holo nei i loko o nā ʻohana. Aia ka ʻāpana ma ka X-chromosome, no laila inā lawe ka makuahine i ka ʻāpana hemahema, he 50% (1 i ka 2) manawa ke loaʻa i kēia maʻi ka maʻi, a he 50% o kāna mau kaikamahine e lawe i kēia maʻi. . Kapa ʻia kēia ʻano hoʻoilina moʻokūʻauhau he resesive pili iā X.

I kekahi poʻe, ʻaʻole hoʻoilina ka maʻi. Akā, aia ka hemahema o ka gen i ka manawa i hāpai ʻia ai ka pēpē.

ʻO nā ʻōuli maʻamau o ka maʻi Menkes i nā pēpē:

• ʻO ka lauoho palupalu, kinky, steely, sparse, a i ʻole lauoho huluhulu
• Pudgy, pāpālina ʻōmaʻomaʻo, ʻili iʻa i ka alo
• Pilikia hānai
• Huhū
• Ka nele o ke kani muscle, floppiness
• Mahana haʻahaʻa kino
• ʻO ke kīnā ʻole o ka ʻike a me ka hoʻopaneʻe hoʻomohala
• Ka hopu ʻana i nā maʻi
• Hoʻololi iwi

I ka manawa e manaʻo ʻia ka maʻi Menkes, hiki i nā hoʻokolohua ke hana ʻia e:

• Ceruloplasmin koko hoʻāʻo (ka mea i lawe i ke keleawe i ke koko)
• Hōʻike koko keleawe
• Ka moʻomeheu ʻili ʻili
• X-kukuna o ka iwi iwi poʻo a iwi paha o ka iwi poʻo
• Ke hoʻāʻo nei ʻo Gene e nānā i ka hemahema o ka ATP7A ʻāpana

Mālama wale ka mālama ʻana i ka manawa e hoʻomaka mua i ka papa o ka maʻi. Hoʻokomo ʻia nā kīʻaha keleawe i loko o kahi aa a i ʻole ma lalo o ka ʻili me nā hopena i hui ʻia a pili i ka ATP7A Aia nō i ka Gene kekahi hana.

Hiki i kēia mau kumuwaiwai ke hāʻawi i ka ʻike hou aku ma Menkes Syndrome:

• National Organization for Rare Disorder - rarediseases.org/rare-diseases/menkes-disease
• NIH / NLM Genetics Home Reference - ghr.nlm.nih.gov/condition/menkes-syndrome

ʻO ka hapa nui o nā keiki me kēia maʻi e make i loko o nā makahiki mua o ke ola.

E kamaʻilio me kāu mea mālama ola inā loaʻa iā ʻoe ka moʻolelo ʻohana o Menkes Syndrome a manaʻo ʻoe e hānau keiki. ʻO kahi pēpē me kēia ʻano e hōʻike pinepine i nā ʻōuli ma ka wā kamaliʻi.

E ʻike i ke kākāʻōlelo genetic inā makemake ʻoe e hānau keiki a loaʻa iā ʻoe kahi moʻolelo ʻohana o Menkes Syndrome. ʻO nā mākua makuahine (ʻohana ma ka ʻaoʻao o ka makuahine o ka ʻohana) o kahi keikikāne me kēia maʻi e ʻike ʻia e ka genististist e ʻike inā he poʻe lawe lākou.

Maʻi maʻi steely; Menkes kinky lauoho maʻi pale; Maʻi Kinky lauoho; Maʻi maʻi lawe keleawe; Trichopoliodystrophy; Ka hemahema keleawe hoʻopili ʻia me X

• Hipotonia

Kwon JM. Nā maʻi Neurodegenerative o ka wā kamaliʻi. 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 617.

Turnpenny PD, Ellard S. Nā hewa o ka metabolism. I loko o: Turnpenny PD, Ellard S, eds. Nā Emery o nā Genetics Lapaʻau o Emery. 15th hua. Piladelapia, PA: Elsevier; 2017: chap 18.