Neurofibromatosis-1

Neurofibromatosis-1 (NF1) chirwere chakagara nhaka umo matinji etsinga (neurofibromas) anoumba mune:

• Makamuri epamusoro uye ezasi eganda
• Tsinga dzinobva muuropi (cranial nerves) uye musana wespinal (musana wemidzi tsinga)

NF1 chirwere chakagarwa nhaka. Kana chero mubereki aine NF1, mumwe nemumwe wevana vavo ane 50% mukana wekuve nechirwere.

NF1 inowanikwawo mumhuri dzisina nhoroondo yemamiriro acho. Muzviitiko izvi, zvinokonzereswa newene geni shanduko (mutation) muhurume kana zai. NF1 inokonzerwa nematambudziko ane geni yeprotein inonzi neurofibromin.

NF inokonzeresa tishu pamwe nemitsipa kukura zvisingaite. Uku kukura kunogona kumanikidza tsinga dzakakanganiswa.

Kana kukura kuri muganda, panogona kunge paine zvinhu zvekushongedza. Kana kukura kwacho kuri mune dzimwe tsinga kana zvikamu zvemuviri, zvinogona kukonzera kurwadziwa, kukuvara kwetsinga kwakakomba, uye kurasikirwa kwebasa munzvimbo iyo tsinga inokanganisa. Zvinetso nekunzwa kana kufamba zvinogona kuitika, zvichienderana nekuti itsinga dzipi dzinokanganiswa.

Mamiriro acho anogona kuve akasiyana zvakanyanya kubva kumunhu kuenda kumunhu, kunyangwe pakati pevanhu vari mumhuri imwechete vane iyo yakafanana NF1 geni shanduko.

"Kofi-nemukaka" (café au lait) mavara ndiwo chiratidzo chakakurumbira cheNF. Vazhinji vanhu vane hutano vane imwechete kana maviri madiki cafe kana lait mavara. Zvisinei, vanhu vakuru vane mavara matanhatu kana anopfuura akakura kupfuura 1.5 cm muhupamhi (0.5 cm muvana) vanogona kuve neNF. Mune vamwe vanhu vane mamiriro, aya mavara anogona kunge ari iwo chete chiratidzo.

Zvimwe zviratidzo zvinogona kusanganisira:

• Bundu reziso, senge optic glioma
• Kufenda
• Anopunzika mune yepasi kana kugomera
• Makuru, akapfava mamota anonzi plexiform neurofibromas, ayo anogona kunge aine rakasviba ruvara uye anogona kupararira pasi pechiso cheganda
• Marwadzo (kubva kumitsipa yakakanganiswa)
• Diki, mamota ane tumarara paganda anonzi nodular neurofibromas

Anopa hutano anorapa NF1 anozoongorora iyi mamiriro. Iye mupi anogona kunge ari:

• Dermatologist
• Yekusimudzira chiremba wevana
• Geneticist
• Neurologist

Iko kuongororwa kungangoitwa kunoenderana nezvakasiyana zviratidzo uye zviratidzo zveNF.

Zviratidzo zvinosanganisira:

• Makara, akasimudzwa mavara (Lisch nodules) pane iyo mavara chikamu (iris) yeziso
• Kukotama kwegumbo repazasi achiri mudiki izvo zvinogona kutungamira kutsemuka
• Freckling muhapwa, kugomera, kana pasi pechipfuva mune vakadzi
• Mamota mahombe pasi peganda (plexiform neurofibromas), ayo anogona kukanganisa kutaridzika uye kuisa kumanikidza pamitsipa iri pedyo kana nhengo
• Mamota mazhinji akapfava paganda kana kudzika mumuviri
• Hunyoro hwekuziva kusagadzikana, kutarisisa kushomeka kwehutano kusagadzikana (ADHD), kusagadzikana kwekudzidza

Miedzo inogona kusanganisira:

• Kuongorora kwemaziso ne ophthalmologist inozivikanwa neNF1
• Genetic bvunzo kuti uwane shanduko (mutation) muiyo neurofibromin geni
• MRI yeuropi kana mamwe masosi akakanganiswa
• Mimwe miedzo yezvinetso

Iko hakuna chaiyo kurapwa kweNF. Mamota anokonzera kurwadziwa kana kurasikirwa kwebasa anogona kubviswa. Tumota dzakakura nekukurumidza dzinofanirwa kubviswa nekukasira sezvo dzichigona kuve cancer (yakaipa). Iyo drug selumetinib (Koselugo) ichangobva kubvumidzwa kuti ishandiswe muvana vane mamota akakomba.

Vamwe vana vane matambudziko ekudzidza vangangoda chikoro chakakosha.

Kuti uwane rumwe ruzivo uye zviwanikwa, bata vana Tumor Foundation pa www.ctf.org.

Kana pasina zvinetswa, tarisiro yehupenyu hwevanhu vane NF inenge yakajairika. Nedzidzo chaiyo, vanhu vane NF vanogona kurarama hupenyu hwakajairika.

Kunyangwe kukanganisika kwepfungwa kunowanzo nyoro, NF1 ndiyo inozivikanwa chikonzero chekucherechedza kushomeka kwehutano husina kunaka. Kuremara pakudzidza idambudziko rakajairika.

Vamwe vanhu vanobatwa zvakasiyana nekuti vane mazana emamota paganda ravo.

Vanhu vane NF vane mukana wakawedzerwa wekuvandudza mamota akaomarara. Muzviitiko zvisingawanzoitika, izvi zvinogona kupfupisa hupenyu hwemunhu.

Zvinetso zvinogona kusanganisira:

• Kucherekedza kushomeka kwehutano kusagadzikana (ADHD)
• Kupofumadzwa kunokonzerwa nebundu mune tsinga yemaziso (optic glioma)
• Vhunai gumbo mapfupa asingarape zvakanaka
• Kanzera mamota
• Kurasikirwa kwebasa mumitsipa iyo neurofibroma yakaisa kumanikidza pamusoro penguva refu
• Kuwedzera kweropa nekuda kwepheochromocytoma kana renal artery stenosis
• Kudzokorora kweNF tumarara
• Scoliosis, kana kupindika kwemuzongoza
• Mamota echiso, ganda, uye dzimwe nzvimbo dzakafumurwa

Fonera mupiki wako kana:

• Iwe unoona kofi-ine-mukaka mavara mavara pane iro ganda remwana wako kana chero zvimwe zviratidzo zveichi chiitiko.
• Iwe une nhoroondo yemhuri yeNF uye urikuronga kuita vana, kana iwe ungade kuti mwana wako aongororwe.

Genetic counselling inokurudzirwa kune chero munhu ane nhoroondo yemhuri yeNF.

Kuongorora kwegore negore kunofanirwa kuitirwa:

• Maziso
• Ganda
• Kudzoka
• Kutya system
• Kuwedzera kweropa kuongorora

NF1; Von Recklinghausen neurofibromatosis

• Neurofibroma
• Neurofibromatosis - hofori cafe-au-lait nzvimbo

Friedman JM. Neurofibromatosis 1. GeneReviews®. [Internet]. Seattle (WA): Yunivhesiti yeWashington, Seattle; 1993-2020. 1998 Gumiguru [Yakagadziridzwa 2019 Jun 6]. www.ncbi.nlm.nih.gov/books/NBK1109/.

Islam MP, Roach ES. Neurocutaneous syndromes. Mune: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology muClinical Dzidzira. 7th ed. Philadelphia, PA: Elsevier; 2016: chits. 100.

Sahin M, Ullrich N, Srivastava S, Pinto A. Neurocutaneous syndromes. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chitsiko 614.

Tsao H, Luo S. Neurofibromatosis uye tuberous sclerosis yakaoma. Mune: Bolognia JL, Schaffer JV, Cerroni L, eds. Dermatology. 4th ed. Philadelphia, PA: Elsevier; 2018: chits. 61.