I-neurofibromatosis ezinganeni: izimpawu, ukuxilongwa, ukwelashwa

I-neurofibromatosis iyisifo esibuhlungu esibonakala ngokubonakala kwezicubu. Njengomthetho, iningi lawo liyisimo esibucayi. Izicubu zingenziwa endaweni yesikhumba, ebuchosheni noma emgodini womgogodla, izinzwa nezinye izitho. Ukwelashwa kuhilela ukwenziwa kokuhlinzwa kwama-neoplasms nokuqapha okulandelayo kwezinkinga. Kuvame ukwanele ukuhlola i-neurofibromatosis ezinganeni. Izimpawu kuleso simo ngasinye zingahlukahluka. Kodwa-ke, odokotela babona iqembu lonke lezimpawu zomtholampilo ezihambisana nalesi sifo. Mayelana nabo kanye nezindlela eziyinhloko zokwelashwa kwalesi sifo ezigulini ezincane, sizoxoxa kule ngxenye.

Incazelo yesifo

I-neurofibromatosis isifo sofuzo esizuzwa njengefa. Kubonakala ngokuthuthukiswa kwezinkinga zobuchopho / umgogodla, isikhumba, ezinye izitho zangaphakathi, kanye nesimiso sezinzwa.

Isifo se-neurofibromatosis sibonakala ngokubunjwa kwezidumbu. Uma izimo ze-neoplasms zikhuphuka ngosayizi, zingaphazamisa izitho ezibalulekile, ngaleyo ndlela zikhuthaza ukuthuthukiswa kwezinkinga zezempilo ezihambisana nazo.

I-neurofibromas (izicubu), njengombuso, zivela ebuntwaneni, noma kunalokho ngesikhathi sokukhulelwa. Izibonakaliso zokuqala zomtholampilo ziyizindawo ezihlotshisiwe. Azihambisani nobuhlungu noma ukushaywa. Amabala aqoshiwe angasendaweni yakho ngokuphelele kunoma iyiphi ingxenye yomzimba, kufaka phakathi emigqumeni kanye nendawo ye-inguinal.

Ngokusho kochwepheshe, ama-neurofibromas amaningi anesimo esibucayi, kuphela u-5% wabo abhekene nokuhlukumezeka, okuyinto ukuwohloka okubi. Kodwa-ke, ngisho nezinhlobo ezinobungozi ngokuvamile zibeka ingozi emzimbeni. Into yukuthi ngokuhamba kwesikhathi bayanda ngesayizi, bephazamisa ukusebenza okuvamile kwezinye izitho zangaphakathi.

I-neurofibromatosis ezinganeni ingahambisana ne-anomalies yamathambo esithambo. Ubukhulu begciwane luhlukahluka kusukela komnene kuze kube kanzima kakhulu, futhi lokhu kuhlanganisa ukukhubazeka.

Izimbangela

Kungani i-neurofibromatosis ikhula? Izimbangela zalesi sifo, ngokusho kochwepheshe, zilele ngamaphesenti angu-50 ezenzweni zokufa. Ukuze uqondile, kuyisici sofuzo esithinta amanye amaseli wesimiso sezinzwa (i-lemocytes, i-melanocytes, i-endonevral fibroblasts). Lesi sifo sibonakala ngesimo sezinambuzane eziningi, ezithatha uhlobo lwama- pigment spots, izigaxa ezingaphansi. Kwezinye izimo, kungase kube nezinkinga ngamasipha. Izinkinga ezinjalo emzimbeni zithinta izinzwa zomgogodla.

Uma kwenzeka isifo sofuzo, lesi sifo siqala kungakhathaliseki uhlobo lwegciwane elingenalo ifa. Isibonelo, uma omunye wabazali enegesi ewonakele, engxenyeni yamacala, izingane zingathola ifa lesi sifo. Kubalulekile ukuqaphela ukuthi izinga lokubonakaliswa kwalesi sifo ngokuqondile lixhomeke ezingeni lokubonisa izakhi zofuzo ngokwazo.

Ngakolunye uhlangothi, isici esingahleliwe, okungukuthi, ukuguquguquka okuzenzekelayo, ngokuvamile kuyimbangela yokugula. Ososayensi baqhubeka befunda ngokucophelela izindlela zokuqala kwesifo esinjalo, njenge-neurofibromatosis. Izimbangela zokubonakala kwesifo kusukela ekubukeni kokuguquguquka okuzenzakalelayo cishe akunakwenzeka ukuchaza namuhla.

Kubalulekile ukuthi uqaphele ukuthi lesi sifo sitholakala ngokubili phakathi kwamadoda naphakathi kwabesifazane. Yingakho kunzima ukusho ukuthi ubulili.

I-neurofibromatosis ezinganeni ivela kuphela ngenxa yezinto eziphilayo, ngoba ukuguquguquka okuzenzekelayo kuyisifo esitholakalayo kuphela kwiziguli ezindala.

Ukuhlukaniswa

Njengamanje, lesi sifo sonke sibhekene namafomu ayisithupha:

• Isifo sikaRecklinghausen (uhlobo lwe-1 neurofibromatosis) sitholwa ngamacala angu-90%. Leli fomu libhekiswe ekuthuthukiseni izifo ezingenangqondo, izinhlayiya ze-pigment esikhumbeni, izinkinga ze-bone kanye nezinguquko ku-iris iso.
• I-neurofibromatosis hlobo 2 iyafana kakhulu nokubonakaliswa kwemitholampilo kuya kohlobo lokuqala, kodwa ukukhubazeka kwesikhumba akubonakali kakhulu. Kulesi simo, lesi sifo sibonakala ngendlela ye-neurinas eminingi yobuchopho nomgogodla, kanye nenzwa yokuhlola. Izicubu zesimiso sezinzwa zomphakathi, njengombuso, zakhiwe esikhathini esiphakathi kweminyaka engu-20 no-30 yokuphila.
• Uhlobo lwesithathu lubonakala ngenani elikhulu lama-neurofibres, okuyinto kwezinye izimo ezenza i-glioma ye- optic nerve kanye ne-meningioma.
• Uhlobo lwesine lubizwa nge-segmental, ngoba kulokhu ukukhubazeka kuthinta isikhumba endaweni yangakini.
• Uhlobo lwesihlanu lubonakala ngokungabikho kwemifino ye-nodular, kodwa ngokutholakala kwamabala ahlukahlukeneko wekhofi.
• Isifo sohlobo lwesithupha sitholakala ezigulini emva kweminyaka engama-20, kodwa kulokhu isici sofuzo asiyidlala indima ekhethekile.

Kubalulekile ukuqaphela ukuthi ezigulini ezincane kuphela izinhlobo ezimbili zesifo kungenzeka: uhlobo lwe-neurofibromatosis nohlobo lwe-2 neurofibromatosis.

Izimpawu

Ngokusho kochwepheshe, cishe ingxenye yesithathu yeziguli isikhathi eside angase angasola ngisho nokuba khona kwesifo. Ngokuvamile, ukugula kutholakala ngesikhathi sokuhlolwa kokuvikela okulandelayo. Odokotela baqaphela ukutholakala kwama-nodules amancane ngaphansi kwesikhumba.

Ingxenye yesithathu yeziguli ithola isifo se-neurofibromatosis uma kukhona ukuphazamiseka kwesimo sezinzwa.

Abaningi bafunda ngokuxilongwa kwabo ngemva kokuvakashela i-beautician. Amachashazi ahlotshisiwe avela ebusweni, emuva nangemuva. Kuloluphawu lwesibhedlela, njengombuso, olusebenza njengesizathu sokudlulisela ochwepheshe.

Kubalulekile ukuqaphela ukuthi i-neurofibromatosis ezinganeni ihlukile ngokuhlukile. Izimpawu ngokuvamile zivele zisuka ezinsukwini zokuqala zokuphila. Lapha sikhuluma, okokuqala, mayelana nezindawo eziningi ze-pigment esikhumbeni. Ekukhuleni, izicubu ezincane zobukhulu nobujamo obuhlukile zitholakala. I-neurofibre enjalo ingaba yimbalwa noma ngaphezulu kwekhulu. Ezinye iziguli zithola izinguquko emahlathini (i-scoliosis, i-hip deformities, i-skull bones defect endaweni yangasese).

Kubalulekile ukuthi uqaphele ukuthi izicubu zingasakazeka kunoma yisiphi isisindo emzimbeni, kodwa ikakhulukazi zivela emangqamuzaneni wezimpande zesisindo. Kulokhu, azibangeli ukuhlukumeza okukhulu. Uma izidumbu zisebenza ngokuqondile emthonjeni womgogodla, kukhona ingozi enkulu empilweni yesiguli.

I-neurofibromatosis ye-Recruitinghausen (uhlobo lwe-1) ivame ukubonakaliswa eminyakeni yobudala. Lesi sifo sibonakala ngokubunjwa kwamabala ahlukahlukeneko we-hue elula. Kuyaphawuleka ukuthi zingase zenzeke ezinganeni eziphilile ngokuphelele. Uma kunamabala anjalo angaphezu kwamahlanu emzimbeni onamamitha ama-5 mm noma ngaphezulu, ukuhlolwa kokuxilonga kufanele kwenziwe ukuze kukhishwe lesi sifo, njenge-neurofibromatosis kaRecklinghausen.

Uhlobo lwesibili lwesifo luvame ukutholakala ukuthi selusencane. Kubonakala ukwakhiwa kwezicubu ezilimaza inzwa yokuhlola. Ngaphezu kwalokho, iziguli zithintekile, zikhala ezindlebeni, izinsizwa kanye nezifo ezibhekene ne-vestibular.

Izifo

Okokuqala, ukuhlolwa kwezokwelapha kuyadingeka ukuze kuqinisekiswe lesi sifo, ngoba izibonakaliso ezicacile zemitholampilo zenza kube khona ukuhlolwa okuqondile. Noma kunjalo, kwezinye izimo, kudingekile ukuhlolwa okwengeziwe. Udokotela kufanele acabangele izinhlobo ezingenhla ze-neurofibromatosis ekutholeni ukuxilongwa.

Isifo sikaRecklinghausen siqinisekiswa uma isiguli sinesibonakaliso ezimbili okungezansi:

• Amakhadi kaLisha.
• Izindawo eziboshiwe zomthunzi obomvu wezinga elithile nesayizi.
• Ukungafani kahle kwamathambo.
• Ama-neurofibromas amabili noma ngaphezulu.
• Ukuphinda kufakwe umshini endaweni ye-armpit / inguinal.
• Ukuba khona kwezifo ezihlotsheni eziseduze.

Ukuze uthole ucwaningo oluthe xaxa mayelana nama-neoplasms akhona, udokotela ngokuvamile uqoka i-MRI, i-X-ray ne-CT. I-X-ray iyadingeka ukuze kutholakale okungenzeka okungajwayelekile ezingxenyeni zethambo lomuntu.

Ukuxilonga kwesifo sohlobo lwesibili kusho ukulalela. Lokhu kuyisifundo esikhethekile lapho ukuhlolwa kwesiguli sesiguli kuhlolwa khona.

Kungakhathaliseki uhlobo lwesifo, wonke umuntu, ngaphandle kokunye, unconywa ukuhlaziywa okuthiwa nge-neurofibromatosis. Lokhu kusho ukuhlolwa kwezinto ezifuywayo kakhulu, kufaka phakathi ukuhlolwa kokubeletha. Inketho yokugcina ukuhlaziywa kwe-amniotic fluid noma i-chorionic villi.

Ngini futhi ngifonele yini udokotela

Okokuqala, kufanele kuqashelwe ukuthi ochwepheshe abaningana bahlanganyela ekwelapheni lesi sifo isikhathi esiningi. I-neurologist ibona isiguli esincane kusukela ebuntwaneni, bese kuthi abanye odokotela bajoyine. Njengoba sekushiwo ngenhla, i-neurofibromatosis iyisifo esiyinzalo esithinta ukuguqulwa kwama-chromosomes athile. Ngakho-ke, odokotela abakwazi ukunikeza ukwelashwa okukhulu kakhulu okwamanje. Endabeni yesifo esisheshayo, kunesidingo sokwelapha ukwelashwa uma izinzwa ze-neurofibromas zitholakala ezindaweni zangaphakathi. Ezingxenyeni ze-neurosurgeons, njengomthetho, umthwalo wemithwalo ye-tumor, ebuye isuswe, iwa.

Yini okufanele kube ukwelashwa

Imithi yanamuhla ayikwazi ukuhlinzeka ngezindlela ezinkulu zokwelashwa kwalesi sifo. Yingakho odokotela, njengomthetho, beka ukwelashwa okuyisimangaliso. Lokhu kusho ukudla kwamathimba athile wezidakamizwa ("Ketotifen", "Fenkarol", "Tigazon") ukuze kubuyiselwe izinqubo zomzimba emzimbeni futhi kunciphise ukubonakaliswa kwempawu zomtholampilo zesifo esinjalo njenge-neurofibromatosis.

Ukwelashwa kukhethwe udokotela kuphela futhi ngabanye, kucabangela ukubonakaliswa okuqondile kwalesi sifo. Lapho ukhipha ukwelashwa, imiphumela yokuhlaziywa kwezakhi zofuzo, iziphetho zomzimba wamazinyo, i-ophthalmologist kanye ne-oncologist nazo zicatshangelwa.

Ngokuvamile, ukungenelela kokuhlinzwa kuyadingeka. Kubalulekile ukuqaphela ukuthi kuyinto engavamile kakhulu ukukhipha zonke izidakamizwa zesisu ngenxa yokusakazeka kwenqubo. Kwezinye izimo, ukufakelwa isikhumba kuyadingeka ngaphezu kwalokho . Izinkomba eziyinhloko zokungenelela okuhlinzekwayo yizinto ezilandelayo: ubuhlungu obunzima endaweni ethintekile, ukuguliswa kwezidakamizwa, ukulimala, ukuphazanyiswa kwezitho ezibalulekile. Ngezinhloso zokwenza izimonyo, ukuhlinzwa kungavamile kakhulu, njengoba kukwandisa amathuba okugcoba i-neurofibromatosis. Ukwelashwa ngamakhambi omuntu akumukeleki.

Namuhla, inani elikhulu lezinkinga zokuthuthukiswa kwalesi sifo liyaziwa, ngenxa yalokho ezinye izifo ezakhiwe. Yingakho kubaluleke kakhulu ukuthi ungashiyi inkinga ngaphandle kokunaka.

Izinkinga ezingenzeka

Njengoba sekushiwo ngenhla, i-neurofibromatosis yezingane akufanele ilahlekelwe. Ukwelashwa kufanele kube ngesikhathi esifanele futhi kuqeqeshiwe. Uma kungenjalo, amathuba okuthuthukisa izinkinga ezinkulu ezithinta impilo yengqondo nesiguli sesiguli esincane, izinga layo lokuphila liphakeme kakhulu. Izazi zikhomba izinkinga ezilandelayo:

• Isifo somfutho wegazi ophezulu.
• Ukuhlukunyezwa (kubhekene namacala angu-40% ezinganeni ezinesifo sokuqala).
• Ukuzizwa.
• Izinkinga zokukhuluma.
• I-Scoliosis.
• Ukukhubazeka okubonakalayo.
• Ukuthuthukiswa kocansi okudambisiwe.

I-neurofibromatosis ezinganeni, izimpawu zazo ezichazwe ngenhla, zidinga ukulandelwa kwemithi okudingekayo, ukuvimbela izinkinga. Uma kunesidingo, udokotela angancoma izinyathelo zokuvuselela.

Ukuzwa ukulahlekelwa kwe-neurofibromatosis yohlu lwesibili kubhekwa njengendlela yokufaka ukufakwa okukhethekile kokwenziwa kwamabhuku. Le divayisi iqhubeka isakaza izimpawu zomsindo ebuchosheni, ivumela ingane ukuthi ikwazi ukuzwakala imisindo futhi ikwazi ukukhuluma.

Ukuvimbela

Ngeshwa, odokotela abakwazi ukunikeza izinyathelo eziphumelelayo zokuvimbela lesi sifo. Into yukuthi izimbangela zemvelaphi yayo azizange zenziwe ekugcineni. Ochwepheshe batusa kuphela ukuqapha impilo yengane, njalo bamyisa ekuhlolweni kwezokwelapha.

Nini kufanele uqaphele i-neurofibromatosis

Ezinganeni, izimpawu zibonakala ngokuyinhloko ngesimo sebala elikhanyayo esikhumbeni. Uma ingane yakho inezibonakaliso, kubaluleke kakhulu ukubonisana nodokotela ukuze akwazi ukuqeda lesi sifo.

Uma i-neurofibromatosis isivele isiqinisekisiwe, kubalulekile ukuqapha njalo isimo sesiguli esincane, ukwakheka kwezicubu. Uma ukwandisa lesi samuva, kunconywa ukuba ufune usizo olufanele.

Into ebaluleke kakhulu kule ndaba ukuthola lesi sifo ngokushesha ngangokunokwenzeka. Ngokusho kwedatha, izibalo ezingaba ngu-60% zezingane ezinezifo ezixilongwa zinezibonakaliso ezincane zesifo. Ngaphezu kwalokho, abaningi abadingi ukwelashwa okukhethekile.

Ngakho-ke, kuyacaca ukuthi ngaphambi kwesikhathi akufanele ukwesabe isifo esinjalo njenge-neurofibromatosis ezinganeni. Izithombe zeziguli ezincane zibonisa ngokucacile ukuthi ungaphila ngalezo zifo. Yiqiniso, ezinganeni ezinesimo esibi kakhulu sesifo, izinkinga zivame ukuvela. Kodwa-ke, uma kukhona ukwesekwa nokusekelwa okuqhubekayo, kungaholela ekukhiqizeni kakhulu, futhi okubaluleke kakhulu, ukuphila okujabulisayo.