Neurofibromatosis-1

Neurofibromatosis-1 (NF1) ndimatenda obadwa nawo momwe zotupa zamitsempha yamitsempha (neurofibromas) zimapangidwira mu:

• Mbali zakumtunda ndi zapansi za khungu
• Mitsempha yochokera muubongo (misempha yaminyewa) ndi msana wamtsempha (misana yamtsempha yamtsempha)

NF1 ndi matenda obadwa nawo. Ngati kholo lililonse lili ndi NF1, mwana aliyense ali ndi mwayi wokhala ndi matendawa 50%.

NF1 imapezekanso m'mabanja omwe alibe mbiri yazomwe zachitika. Nthawi izi, zimayambitsidwa ndikusintha kwatsopano kwa jini (umuna) mu umuna kapena dzira. NF1 imayambitsidwa ndi mavuto a jini la protein yotchedwa neurofibromin.

NF imapangitsa kuti minofu m'mitsempha ikule mosaletseka. Kukula kumeneku kumatha kukakamiza mitsempha yomwe idakhudzidwa.

Ngati zophuka zili pakhungu, pakhoza kukhala zovuta zodzikongoletsera. Ngati zophukirazo zili muminyewa kapena mbali zina za thupi, zimatha kupweteketsa mtima, kuwonongeka kwamitsempha, komanso kutayika kwa ntchito m'deralo. Mavuto akumverera kapena kuyenda kumatha kuchitika, kutengera mitsempha yomwe imakhudzidwa.

Vutoli limatha kukhala losiyana kwambiri ndi munthu wina, ngakhale pakati pa anthu am'banja limodzi omwe ali ndi kusintha komweko kwa NF1.

Mawanga a "khofi ndi mkaka" (café au lait) ndiwo chizindikiro cha NF. Anthu ambiri athanzi ali ndi tchuthi chaching'ono chimodzi kapena ziwiri. Komabe, akulu omwe ali ndi mawanga asanu ndi limodzi kapena kupitilira apo omwe ndi akulu kuposa 1.5 cm m'mimba mwake (0,5 cm mwa ana) atha kukhala ndi NF. Kwa anthu ena omwe ali ndi vutoli, mawangawa akhoza kukhala chizindikiro chokhacho.

Zizindikiro zina zitha kuphatikiza:

• Zotupa za diso, monga optic glioma
• Kugwidwa
• Ma Freckles m'manja kapena kubuula
• Zotupa zazikulu, zofewa zotchedwa plexiform neurofibromas, zomwe zimakhala ndi mtundu wakuda ndipo zimatha kufalikira pansi pakhungu
• Ululu (kuchokera m'mitsempha yomwe yakhudzidwa)
• Zotupa zazing'ono, zampira pakhungu lotchedwa nodular neurofibromas

Wopereka chithandizo chamankhwala yemwe amathandizira NF1 azindikira izi. Woperekayo atha kukhala:

• Dokotala Wamankhwala
• Katswiri wa ana otukuka
• Wobadwa kumene
• Katswiri wa zamagulu

Matendawa amatha kupangidwa chifukwa cha zizindikilo zapadera za NF.

Zizindikiro zimaphatikizapo:

• Mawanga achikuda, okwezedwa (Lisch ma nodule) pagawo lachikuda (iris) la diso
• Kugwadira mwendo wapansi kuyambira ali mwana zomwe zingayambitse mafupa
• Freckling mu khwapa, kubuula, kapena pansi pa bere mwa akazi
• Zotupa zazikulu pansi pa khungu (plexiform neurofibromas), zomwe zimatha kukhudza mawonekedwe ndikuyika kukakamiza kwa mitsempha kapena ziwalo zapafupi
• Zotupa zambiri zofewa pakhungu kapena mkati mwathupi
• Kuwonongeka pang'ono, kuzindikira kuchepa kwa chidwi (ADHD), zovuta kuphunzira

Mayeso atha kuphatikiza:

• Kuyesa kwamaso ndi katswiri wa maso yemwe amadziwika ndi NF1
• Mayeso achibadwa kuti apeze kusintha (kusintha) mu jini la neurofibromin
• MRI yaubongo kapena masamba ena okhudzidwa
• Mayeso ena pazovuta

Palibe mankhwala enieni a NF. Zotupa zomwe zimayambitsa kupweteka kapena kutayika kwa ntchito zimatha kuchotsedwa. Zotupa zomwe zakula mwachangu ziyenera kuchotsedwa mwachangu chifukwa zimatha kukhala khansa (zoyipa). Mankhwalawa selumetinib (Koselugo) adavomerezedwa posachedwa kuti agwiritsidwe ntchito kwa ana omwe ali ndi zotupa zazikulu.

Ana ena omwe ali ndi vuto la kuphunzira angafunike maphunziro apadera.

Kuti mumve zambiri komanso zothandizira, pitani ku Children's Tumor Foundation pa www.ctf.org.

Ngati palibe zovuta, chiyembekezo cha moyo cha anthu omwe ali ndi NF chimakhala chachilendo. Ndi maphunziro oyenera, anthu omwe ali ndi NF amatha kukhala moyo wabwinobwino.

Ngakhale kuwonongeka kwamaganizidwe nthawi zambiri kumakhala kofatsa, NF1 ndichodziwika chomwe chimayambitsa chidwi cha kuchepa kwa chidwi. Kulephera kuphunzira sikofala.

Anthu ena amathandizidwa mosiyana chifukwa ali ndi zotupa mazana pakhungu lawo.

Anthu omwe ali ndi NF ali ndi mwayi wowonjezeka wokhala ndi zotupa zazikulu. Nthawi zambiri, izi zimatha kufupikitsa moyo wa munthu.

Zovuta zitha kukhala:

• Chidziwitso cha kuchepa kwa matenda (ADHD)
• Khungu lomwe limayamba chifukwa cha chotupa mumitsempha yamagetsi (optic glioma)
• Phwanya mafupa a mwendo omwe samachira bwino
• Zotupa za khansa
• Kutayika kwa ntchito m'mitsempha yomwe neurofibroma yakupanikizani kwakanthawi
• Kuthamanga kwa magazi chifukwa cha pheochromocytoma kapena aimpso artery stenosis
• Kukula kwa zotupa za NF
• Scoliosis, kapena kupindika kwa msana
• Zotupa kumaso, khungu, ndi malo ena owonekera

Itanani omwe akukuthandizani ngati:

• Mukuwona mabala amtundu wa khofi ndi mkaka pakhungu la mwana wanu kapena zizindikilo zina za vutoli.
• Muli ndi mbiri ya banja la NF ndipo mukukonzekera kukhala ndi ana, kapena mukufuna kuti mwana wanu ayesedwe.

Uphungu wamtunduwu umalimbikitsidwa kwa aliyense amene ali ndi mbiri yabanja ya NF.

Kuyesedwa kwapachaka kuyenera kuchitidwa kwa:

• Maso
• Khungu
• Kubwerera
• Mchitidwe wamanjenje
• Kuwunika kwa magazi

NF1; Von Recklinghausen neurofibromatosis

• Neurofibroma
• Neurofibromatosis - chimphona cafe-au-lait malo

Friedman JM. Neurofibromatosis 1. MbalameReviews®. [Intaneti]. Seattle (WA): Yunivesite ya Washington, Seattle; 1993-2020. 1998 Oct 2 [Idasinthidwa 2019 Jun 6]. www.ncbi.nlm.nih.gov/books/NBK1109/.

MP Wachi Islam, Roach ES. Ma syndromes amitsempha. Mu: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, olemba. Neurology ya Bradley mu Kuchita Zachipatala. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2016: chap 100.

Sahin M, Ullrich N, Srivastava S, Pinto A. Ma syndromes amtundu wosagwirizana. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 614.

Tsao H, Luo S. Neurofibromatosis ndi tuberous sclerosis zovuta. Mu: Bolognia JL, Schaffer JV, Cerroni L, olemba. Matenda Opatsirana. Wolemba 4. Philadelphia, PA: Elsevier; 2018: mutu 61.