I-Neurofibromatosis-1

I-Neurofibromatosis-1 (NF1) sisifo esifa njengelifa apho izicwili zemithambo-luvo (neurofibromas) zibumba ngolu hlobo:

• Umaleko ongaphezulu nolusezantsi wolusu
• Imithambo evela kwingqondo (i-cranial nerves) kunye nomqolo womqolo (ingcambu yomqolo)

I-NF1 sisifo esizuzwe njengelifa. Ukuba omnye umzali une-NF1, umntwana ngamnye kubo unethuba lama-50% lokuba nesifo.

I-NF1 ikwavela kwiintsapho ezingenayo imbali yale meko. Kwezi meko, kubangelwa lutshintsho lwemfuza entsha (ukuguquka) kwisidoda okanye iqanda. I-NF1 ibangelwa ziingxaki zofuzo kwiprotein ebizwa ngokuba yi-neurofibromin.

I-NF ibangela ukuba izicwili ecaleni kwemithambo-luvo zikhule ngokungalawulekiyo. Oku kukhula kunokubeka uxinzelelo kwimithambo echaphazelekayo.

Ukuba ukukhula kusesikhumbeni, kunokubakho imicimbi yezithambiso. Ukuba ukukhula kwezinye iiseli zemithambo-luvo okanye amalungu omzimba, kunokubangela iintlungu, ukonakala kwemithambo-luvo, kunye nokulahleka komsebenzi kuloo ndawo ichaphazeleka luvo. Iingxaki zokuziva okanye intshukumo zinokwenzeka, kuxhomekeke ekubeni yeyiphi na imithambo echaphazelekayo.

Imeko inokwahluka kakhulu kumntu emntwini, naphakathi kwabantu kusapho olunye abanotshintsho olufanayo lweNF1.

Amabala "e-coffee-with-milk" (i-café au lait) ziimpawu ezibonakalayo ze-NF. Abantu abaninzi abasempilweni banendawo enye okanye ezimbini ezincinci zokutya. Nangona kunjalo, abantu abadala abanamabala amathandathu nangaphezulu amakhulu kune-1.5 cm ubukhulu (i-0.5 cm kubantwana) banokuba ne-NF. Kwabanye abantu abanemeko, la mabala anokuba kuphela kwempawu.

Ezinye iimpawu zingabandakanya:

• Ukudumba kwamehlo, njenge-optic glioma
• Ukuxhuzula
• Iifreckles kwi-underarm okanye kwi-groin
• Amathumba amakhulu, athambileyo abizwa ngokuba yi-plexiform neurofibromas, anokuba nombala omnyama kwaye asasazeke phantsi kolusu
• Ubuhlungu (ukusuka kwimithambo echaphazelekayo)
• Amancinci, amathumba erabha eluswini abizwa ngokuba yi-nodular neurofibromas

Umboneleli wezempilo ophatha iNF1 uya kuyifumanisa le meko. Umboneleli unokuba:

• Ugqirha wesikhumba
• Uphuhliso lwabantwana
• Umfuziselo
• Ingcali yonyango

Ukuchongwa kuya kwenzeka kakhulu ngokusekwe kwiimpawu ezizodwa kunye neempawu zeNF.

Iimpawu zibandakanya:

• Ibala, amabala aphakanyisiweyo (ii-Lisch maqhuqhuva) kwinxalenye enemibala (iris) yamehlo
• Ukuguqa emlenzeni osezantsi ebuntwaneni obunokubangela ukwaphuka
• Ukujikeleza rhoqo emakhwapheni, kwi-groin, okanye ngaphantsi kwebele kubafazi
• Amathumba amakhulu phantsi kolusu (i-plexiform neurofibromas), enokuthi ichaphazele ukubonakala kwaye ibeke uxinzelelo kwimithambo okanye kumalungu akufutshane.
• Amathumba amaninzi athambileyo eluswini okanye nzulu emzimbeni
• Ukuphazamiseka kwengqondo okuthobekileyo, ukunqongophala kwengqondo yokuphazamiseka (ADHD), ukuphazamiseka kokufunda

Uvavanyo lunokubandakanya:

• Uvavanyo lwamehlo ngugqirha wamehlo oqhelene neNF1
• Uvavanyo lwe-Genetic ukufumana utshintsho (uguquko) kwi-neurofibromin gene
• I-MRI yengqondo okanye ezinye iisayithi ezichaphazelekayo
• Olunye uvavanyo lweengxaki

Akukho lonyango oluthile lwe-NF. Izidumbu ezibangela iintlungu okanye ukuphulukana nomsebenzi zinokususwa. Izidumba ezikhule ngokukhawuleza kufuneka zisuswe ngokukhawuleza njengoko zinokuba ngumhlaza (ezinobungozi). Iyeza leselumetinib (Koselugo) lisandul 'ukuvunywa ukuba lisetyenziswe kubantwana abanamathumba aqatha.

Abanye abantwana abanengxaki yokufunda banokufuna imfundo ekhethekileyo.

Ngolwazi oluthe kratya kunye nezixhobo, nxibelelana neChildren's Tumor Foundation ku www.ctf.org.

Ukuba akukho ngxaki, ixesha lokuphila labantu abane-NF liphantse laqheleka. Ngemfundo elungileyo, abantu abaneNF banokuphila ubomi obuqhelekileyo.

Nangona ukukhubazeka kwengqondo kuqhelekile kubumnene, i-NF1 sisizathu esaziwayo sokunqongophala kokuphazamiseka kwengqondo. Ukukhubazeka ekufundeni yingxaki eqhelekileyo.

Abanye abantu baphathwa ngokwahlukileyo kuba banamakhulu amathumba kulusu lwabo.

Abantu abane-NF banethuba elongeziweyo lokuphuhliswa kwamathumba abukhali. Kwiimeko ezinqabileyo, ezi zinokunciphisa ubomi bomntu.

Iingxaki zinokubandakanya:

• Ukuqwalaselwa kwentsilelo yokuchaphazeleka kwengqondo (ADHD)
• Ubumfama obubangelwa yithumba kwimbilini ye-optic (optic glioma)
• Ukophuka emathanjeni omlenze angaphili kakuhle
• Izidumbu ezinomhlaza
• Ukuphulukana nomsebenzi kwimithambo-luvo yokuba i-neurofibroma ibeke uxinzelelo ngaphezulu kwexesha elide
• Uxinzelelo lwegazi oluphezulu ngenxa ye-pheochromocytoma okanye i-renal artery stenosis
• Ukuphinda kubekhona izilonda zeNF
• I-Scoliosis, okanye ukugoba komqolo
• Ukudumba kobuso, ulusu kunye nezinye iindawo eziveziweyo

Fowunela umnikezeli wakho ukuba:

• Uyaphawula amabala anemibala yekofu-nobisi kulusu lomntwana wakho okanye naziphi na ezinye iimpawu zale meko.
• Unembali yosapho ye-NF kwaye uceba ukuba nabantwana, okanye ungathanda ukuba umntwana wakho avavanywe.

Ukucetyiswa ngemfuzo kuyacetyiswa kuye nakubani na onembali yosapho yeNF.

Uvavanyo lonyaka kufuneka lwenziwe:

• Amehlo
• Ulusu
• Emva
• Inkqubo yovalo
• Ukujonga uxinzelelo lwegazi

NF1; Von Recklinghausen neurofibromatosis

• Neurofibroma
• I-Neurofibromatosis-indawo enkulu ye-cafe-au-lait

UFriedman JM. I-Neurofibromatosis 1. GeneReviews®. [Intanethi]. Seattle (WA): IYunivesithi yaseWashington, Seattle; 1993-2020. Ngo-1998 u-Oktobha 2 [Uhlaziywe ngo-2019 ngoJuni 6]. www.ncbi.nlm.nih.gov/books/NBK1109/.

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Sahin M, Ullrich N, Srivastava S, Pinto A.Ii-syndromes zeNeurocutaneous syndromes. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 614.

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