Neurofibromatosis-1

ʻO Neurofibromatosis-1 (NF1) kahi maʻi i hoʻoilina ʻia kahi e kū ai nā puʻupuʻu nerve (neurofibromas) i ka:

• ʻO nā papa luna a me lalo o ka ʻili
• Nā ʻalalā mai ka lolo (nā ʻalalona cranial) a me nā iwi kuamoo (nā aʻa aʻa iwi kuamoʻo)

He maʻi hoʻoilina ʻo NF1. Inā loaʻa ka makua NF1 i kēlā me kēia makua, 50% ka loaʻa o kēlā me kēia keiki i ka maʻi.

Hōʻike pū ʻia ʻo NF1 i nā ʻohana me ka mōʻaukala ʻole o ke ʻano. I kēia mau hihia, kumu ʻia ia e kahi hoʻololi hoʻololi hou (hoʻololi) i ka sperm a i ʻole ka hua manu. Hoʻokumu ʻia ʻo NF1 e nā pilikia me kahi ʻāpana no kahi protein i kapa ʻia ʻo neurofibromin.

NF kumu i nāʻaʻaʻa e ulu ulu ʻole. Hiki i kēia ulu ʻana ke hoʻokau i nā aʻalolo i loli ʻia.

Inā nā ulu i ka ʻili, hiki i nā pilikia cosmetic. Inā loaʻa nā ulu i nā aʻa ʻē aʻe a i ʻole nā ​​ʻāpana o ke kino, hiki iā lākou ke hōʻeha i ka ʻeha, hōʻino loa i nā nerve, a me ka nalo ʻana o ka hana ma ka wahi i hoʻopili ʻia e ke aʻalolo. Hiki i nā pilikia me ka naʻau a i ʻole ke neʻe ke hiki mai, kaukaʻi ʻia i nā aʻalolo.

Hiki ke ʻano ʻokoʻa ke ʻano mai kekahi kanaka a kanaka, ʻoiai i waena o nā poʻe o ka ʻohana like i loaʻa ka loli gen NF1 like.

ʻO nā wahi "Kope-me-ka waiū" (café au lait) kahi hōʻailona o ka NF. Nui nā kānaka olakino i hoʻokahi a i ʻole ʻelua mau cafe liʻiliʻi au lait. Eia nō naʻe, hiki i nā mākua i ʻeono a ʻoi paha mau kiko i ʻoi aku ma mua o 1.5 cm ke anawaena (0.5 cm i nā keiki) hiki ke loaʻa ka NF. I kekahi poʻe me ke ʻano, ʻo kēia mau kiko ka hōʻailona wale nō.

Hiki i nā ʻōuli ʻē aʻe ke:

• Nā tumors o ka maka, e like me optic glioma
• Ka hopu ʻana i nā maʻi
• Freckles i loko o ka underarm a i ʻole ke ʻino
• ʻO nā tumors nunui, palupalu hoʻi i kapa ʻia ʻo plexiform neurofibromas, a he ʻeleʻele ʻeleʻele paha a pālahalaha ma lalo o ka ʻili.
• ʻEha (mai nā ʻalolo i hoʻopili ʻia)
• ʻO nā tumors liʻiliʻi, rubbery o ka ʻili i kapa ʻia he neurofibromas nodular

ʻO kahi mea mālama ola nāna e mālama iā NF1 e hōʻoia i kēia ʻano. ʻO ka mea hāʻawi he:

• Dermatologist
• Pediatrician hoʻomohala
• Geneticist
• Neurologist

E hoʻokumu ʻia ka hōʻailona ma muli o nā ʻōuli kū hoʻokahi a me nā hōʻailona o NF.

Aia nā hōʻailona me:

• Nā kala, nā wahi i hāpai ʻia (Lisch nodules) ma ka ʻāpana kala (iris) o ka maka
• ʻO ke kūlou ʻana o ka wāwae lalo i ke kamaliʻi e alakaʻi i nā haki
• Freckling i nā lima, ʻūlū, a i ʻole ma lalo o ka umauma i nā wahine
• Nā Tumors nunui ma lalo o ka ʻili (neurofibromas plexiform), hiki ke hoʻopili i ka helehelena a kau i ke kaomi ma nā aʻa kokoke a i ʻole nā ​​ʻokana.
• ʻO nā tumors palupalu he nui ma ka ʻili a hohonu paha i ke kino
• Ka hoʻohaʻahaʻa noʻonoʻo haʻahaʻa, ka maʻi hyperactivity deficit attention (ADHD), nā maʻi aʻo

E komo pū paha nā hoʻāʻo:

• ʻO ka hoʻokolohua maka e ka ophthalmologist kamaʻāina me NF1
• Nā hoʻāʻo genetic e ʻike i kahi loli (mutation) i ka gen neurofibromin
• MRI o ka lolo a i ʻole nā ​​pūnaewele ʻē aʻe i hoʻopili ʻia
• Nā hoʻāʻo ʻē aʻe no nā pilikia

ʻAʻohe mālama kūikawā no NF. ʻO nā tumors e kumu i ka ʻeha a i ʻole ka nalo o ka hana e hemo paha. ʻO nā tumors i ulu koke e pono e hemo koke no ka mea ua lilo lākou i maʻi maʻi (malignant). Ua ʻae ʻia ka lāʻau selumetinib (Koselugo) no ka hoʻohana ʻana i nā keiki me nā tumors koʻikoʻi.

Pono paha kekahi mau keiki me nā maʻi aʻo i ke kula kūikawā.

No ka ʻike hou aku a me ka waiwai, e kāhea aku i ka Children’s Tumor Foundation ma www.ctf.org.

Inā ʻaʻohe pilikia, ʻo ke ola ke ola o ka poʻe me NF ua aneane maʻamau. Me ke aʻo kūpono, hiki i nā poʻe me NF ke ola i kahi ola maʻamau.

ʻOiai haʻahaʻa ka naʻau noʻonoʻo, ʻo NF1 kahi kumu i ʻike ʻia o ka maʻi hyperactivity deficit attention. He pilikia maʻamau ka ʻike kīnā ʻole.

Mālama ʻokoʻa ʻia kekahi mau kānaka no ka mea he mau hanelu ko lākou ʻili ma ko lākou ʻili.

Loaʻa ka poʻe me ka NF i ka manawa kūpono e hoʻomohala i nā tumors koʻikoʻi. I nā hihia kakaikahi, hiki i kēia mau mea ke hoʻopōkole i ke ola o ke kanaka.

Hiki i nā pilikia ke hoʻopili:

• ʻO ka maʻi hyperactivity deficit Attention deficit (ADHD)
• Hoʻokumu ʻia ka makapō e kahi tumo i kahi nerve optic (optic glioma)
• Haki i nā iwi wāwae ʻole e hoʻōla maikaʻi
• Maʻi ʻaʻai Ka maʻi ʻaʻai
• ʻO ka nalowale o ka hana i nā aʻalolo a kahi neurofibroma i hoʻokau ai i ke kaomi no ka wā lōʻihi
• ʻO ke koko kiʻekiʻe ma muli o ka pheochromocytoma a i ʻole stenosis
• Ka ulu hou o nā tumors NF
• Scoliosis, a i ʻole curvature o ka spine
• Nā tumors o ka maka, ka ʻili, a me nā wahi i hōʻike ʻia aʻe

Kāhea i kāu mea hāʻawi inā:

• ʻIke ʻoe i nā kiko kala a me ka waiū kope ma ka ʻili o kāu keiki a i ʻole nā ​​hōʻailona ʻē aʻe o kēia ʻano.
• He moʻolelo ʻohana kāu no ka NF a ke hoʻolālā nei ʻoe e loaʻa nā keiki, a i ʻole makemake ʻoe e nānā ʻia kāu keiki.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic no kēlā me kēia me ka moʻolelo ʻohana o NF.

Pono e hana i ka nānā makahiki ʻana no:

• Nā Maka
• ʻIli
• Hope
• ʻŌnaehana nervous
• Ke nānā nei i ke kaomi koko

NF1; ʻO Von Recklinghausen neurofibromatosis

• Neurofibroma
• Neurofibromatosis - kahi cafe nui-a-lait launa

ʻO Friedman JM. Neurofibromatosis 1. GeneReviews®. [Pūnaewele]. Seattle (WA): Kulanui o Wakinekona, Seattle; 1993-2020. 1998 ʻOkakopa 2 [Hoʻohou 2019 Jun 6]. www.ncbi.nlm.nih.gov/books/NBK1109/.

ʻO MP Islam, Roach ES. Nā syndrome Neurocutaneous. I: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. ʻO Bradley's Neurology i ka hana lapaʻau. ʻEpekema 7 Piladelapia, PA: Elsevier; 2016: chap 100.

Sahin M, Ullrich N, Srivastava S, Pinto A. Neurocutaneous syndrome. 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 614.

ʻO Tsao H, Luo S. Neurofibromatosis a me ka paʻakikī tuberous sclerosis. I: Bolognia JL, Schaffer JV, Cerroni L, eds. Dermatology. ʻEhā ed. Piladelapia, PA: Elsevier; 2018: chap 61.