ʻO Chediak-Higashi Syndrome

ʻO Chediak-Higashi Syndrome kahi maʻi maʻamau o nā ʻōnaehana pale a me nā ʻōnaehana. Pili i nā lauoho, nā maka, a me ka ʻili i pena ʻia.

Hoʻoholo ʻia ʻo Chediak-Higashi maʻi ma waena o nā ʻohana (hoʻoilina). He maʻi recessive autosomal ia. ʻO kēia ke kumu o nā mākua ʻelua i lawe i kahi kope hana ʻole o ka moʻokūʻauhau. Pono kēlā me kēia mākua e hāʻawi i kā lākou hana ʻole i ke keiki na lākou e hōʻike i nā ʻōuli o ka maʻi.

Ua loaʻa nā kīnā ʻole ma ka LYST (i kapa ʻia hoʻi CHS1) ʻāpana. Loaʻa ka hemahema mua o kēia maʻi i kekahi mau mea maʻamau i loko o nā ʻili o ka ʻili a me kekahi o nā ʻula koko keʻokeʻo.

Loaʻa i nā keiki me kēia ʻano:

• ʻO ka lauoho lauoho, nā maka maka ʻālohilohi (albinism)
• Hoʻonui i nā maʻi i nā akemāmā, ka ʻili, a me nā membrane mucous
• ʻO ka neʻe ʻana o ka maka ʻo Jerky (nystagmus)

ʻO ka maʻi o nā keiki i hoʻopilikia ʻia me kekahi mau mea ʻino, e like me Epstein-Barr virus (EBV), hiki ke hana i kahi maʻi hoʻoweliweli e like me ka lymphoma maʻi ʻaʻai koko.

Hiki i nā ʻōuli ʻē aʻe ke:

• Hoʻoemi i ka hihiʻo
• Kīnā ʻole o ka noʻonoʻo
• Nāwaliwali ka ʻiʻo
• Nā pilikia o ke aʻa i nā lālā (neuropathy ākea)
• Nosebleeds a palupalu maʻalahi paha
• Pōpō
• Haʻalulu
• Ka hopu ʻana i nā maʻi
• ʻIke i ka mālamalama mālamalama (photophobia)
• Hele wāwae ʻole ʻole (ataxia)

E hana ka mea mālama ola i kahi hoʻokolohua kino. Hōʻike paha kēia i nā ʻōuli o ka peʻa pehu a i ke ake a i ʻole ka jaundice.

ʻO nā hoʻāʻo e hana ʻia ana paha:

• Heluhelu piha i ke koko, me ka helu keʻokeʻo o ke koko
• Helu pāhi koko
• ʻO ka moʻomeheu koko a me ka hamo
• ʻO BRI MRI a i ʻole CT
• ʻEELE
• EMG
• Nā hoʻāʻo conduction nerve

ʻAʻohe mālama kūikawā no ka maʻi Chediak-Higashi. ʻO nā ʻōiwi iwi i hana mua ʻia i ka maʻi ʻike ʻia ua kūleʻa i kekahi mau maʻi.

Hoʻohana ʻia nā antibiotic e mālama i nā maʻi. Hoʻohana pinepine ʻia nā lāʻau Antiviral, e like me ka acyclovir, a me nā lāʻau chemotherapy i ka manawa wikiwiki o ka maʻi. Hāʻawi ʻia ke koko a me ka platelet transfusions e pono ai. Pono paha kahi ʻoki e hoʻokahe i nā abscesses i kekahi mau hihia.

National Organization for Rare Disorder (NORD) - rarediseases.org

Kū pinepine ka make i nā makahiki he 10 o ke ola, mai nā maʻi lōʻihi (mau) a i ʻole nā ​​maʻi i hōʻeleu ʻia e hopena ai i nā maʻi like me ka lymphoma. Eia naʻe, ua ola kekahi mau keiki i hoʻopilikia ʻia.

Komo pū nā pilikia:

• ʻO nā maʻi pinepine e pili ana i kekahi ʻano bacteria
• ʻO ka maʻi ʻaʻai like Lymphoma i hoʻoulu ʻia e nā maʻi viral e like me EBV
• Ka make mua

Kāhea i kāu mea hāʻawi inā he moʻolelo ʻohana kāu no kēia maʻi a ke hoʻolālā nei ʻoe i nā keiki.

E kamaʻilio i kāu mea hāʻawi inā hōʻike kāu keiki i nā ʻōuli o Chediak-Higashi Syndrome.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic ma mua o ka hāpai ʻana inā loaʻa iā ʻoe kahi moʻolelo ʻohana o Chediak-Higashi.

ʻO Coates TD. Nā maʻi o ka hana phagocyte. 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 156.

ʻO Dinauer MC, Coates TD. Nā maʻi o ka hana phagocyte. I: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Nā Kumumanaʻo a me ka Hoʻomeheu. ʻEpekema 7 Piladelapia, PA: Elsevier; 2018: chap 50.

ʻO Toro C, Nicoli ER, Malicdan MC, Adams DR, Introne WJ. ʻO Chediak-Higashi Syndrome. Nā Manaʻo Gene. 2015. PMID: 20301751 www.ncbi.nlm.nih.gov/pubmed/20301751. Hoʻohou i Iulai 5, 2018. Loaʻa iā Iulai 30, 2019.