Neurofibromatosis kubantwana: iimpawu, isifo, unyango

Neurofibromatosis sisifo ilifa, nto leyo luphawulwa imbonakalo yamathumba. Ngokuqhelekileyo, inkoliso yabo iphawulwa umlinganiswa elihle. Yamathumba kungenziwa eguqulelwe kwi eluswini, kwi ubuchopho okanye umnqonqo, imizwa kunye namanye amaziko. Treatment kuthetha yi kokususa le neoplasm kwakunye nezigulo esweni ezilandelayo. Lidla sivame ukuxilongwa neurofibromatosis ebantwaneni. Iimpawu kwimeko nganye zisenokwahluka ngandlel '. Noko ke, oogqirha ukwahlula lonke iqela iimpawu zonyango iimpawu zesi sifo. Ngazo kunye neendlela engundoqo ukunyanga esi sifo kwizigulane baselula achaza ngayo kweli nqaku.

Inkcazelo sifo

Neurofibromatosis uthathwa isifo yemfuza into njengelifa. Lubonakala luphuhliso yengqondo / iziphene umnqonqo, ulusu, amanye amalungu angaphakathi kunye luvo.

isifo neurofibromatosis ubonisa ithumba Ukwakheka. Xa yamathumba ukwanda ubukhulu, babe zinyhasha amalungu abalulekileyo, ngokwenjenjalo ukumqumbisa uphuhliso iingxaki zempilo ezinxulumene.

Neurofibromas (yamathumba) ngesiqhelo kwi ebuntwaneni, kodwa xa ufikisa. Imiqondiso lokuqala lonyango amabala mnyama. Oko ezingahambi ubuhlungu okanye ukurhawuzelela. amabala Brown kungenziwa eyendayo ngokupheleleyo naphi na emzimbeni, kuquka amakhwapha kunye indawo bedlala.

Ngokutsho kweengcali, amaxesha amaninzi neurofibromas ingozi uhlobo ezahlukeneyo,% 5 kuphela kubo sijongana kwinkqubo yotshintsho neoplastic, oko kukuthi, ukuphelelwa amabi. Noko ke, neziqu nokuba ingozi baphathe ngayo ingozi emzimbeni. Eyona nto kukuba ekuhambeni kwexesha bandile ubukhulu, ukuphazamisa ukusebenza okuqhelekileyo amalungu athile zangaphakathi.

Neurofibromatosis kubantwana esinxulunyaniswa abanala makhwiniba esiqwini ithambo. Ubungqongqo sifo isusela ukusuka ngobulali ukuya ibinzima kunene, kunye yokugqibela ibandakanya ukukhubazeka.

izizathu

Yintoni ebangela neurofibromatosis? Izinto ezibangela le sifo, ngokutsho iingcali, zigutyungelwe-50% amatyala sifuze zamafa. Ukuze ube ngqo, oko yinto yemvelo kuchaphazela iiseli luvo ezithile (lemmotsity, melanocytes, fibroblasts endoneurial). Isifo kubonakala ngohlobo yamathumba ezininzi bafumane iifom amabala ubudala, iikhowuni ongama. Kwezinye iimeko, kusenokuba kukho iingxaki amathambo. Olu hlobo yokuphazamiseka lomzimba kuchaphazela imithambo lialio.

Kwimeko yemfuzo iphuhlise yazo ngokuxhomekeke kuhlobo ilifa sofuzo sinesiphene. Ngokomzekelo, ukuba omnye umzali uba gene eyonakeleyo, isiqingatha abantwana ilifa nesi sifo. Kubalulekile ukuqaphela ukuba izinga nembonakalo sifo ezinxulumene ngqo ukuya kwinqanaba ukubonakaliswa zofuzo ngokwabo.

Kwelinye icala, unobangela izifo kwaye kaninzi yenza a random into, oko kukuthi kuguquka ezikhululekileyo. Izazinzulu kuqhubeka ngoku kwez ufunda ezisebenza izifo ezifana neurofibromatosis. Ubangelwa sifo ngokwemiqathango nzame ezizenzekelayo ngoku phantse akunakwenzeka ukuchaza.

Kubalulekile ukuqaphela ukuba isifo eso ngokulinganayo phakathi kwamadoda phakathi sex enobulungisa. Yiloo nto kunzima ukuba kuthiwe besini.

Neurofibromatosis kubantwana kwenzeka kuphela ngenxa yohlobo yemfuza, njengoko kuguquka ezizenzekelayo - kubhaliwe leengxaki ezifunyenwe kuphela kwizigulane abadala.

ngezigaba

Okwangoku, esi sifo jikelele ngokuqhelekileyo yahlulwe iintlobo ezintandathu:

• isifo Recklinghausen (uhlobo neurofibromatosis 1) banesifo ngo-90% yamatyala. Kuba le fomu luphawulwa Uphuhliso yamathumba nabungozi, amatshatshazi ulwehlo kakhulu eluswini, ukungaqheleki bone kunye notshintsho iris.
• uhlobo Neurofibromatosis 2 iyafana kakhulu izinto kwezonyango uhlobo yokuqala, kodwa iziphene ulusu azibonakali kangaka. Kulo mzekelo, esi sifo wabonakalaliswa ngokohlobo ingqondo neuromas ezininzi kunye umnqonqo, kwakunye luvo eziviwayo. Yamathumba yenkqubo luvo, njengoko umthetho, kwakheka phakathi iminyaka yobomi-20 no-30.
• Uhlobo lwesithathu iphawulwa linani elikhulu neurofibromas, leyo kwezinye iimeko abangele glioma ye-luvo optic kunye meningitis.
• Uhlobo lwesine ngenye indlela kuthiwa icandelo, njengoko kulo mzekelo, lo ngezifo ichaphazela isikhumba ekuhlaleni.
• Uhlobo yesihlanu kukungabikho izilonda nodular, kodwa ubukho amabala ulwehlo lombala ikofu.
• uhlobo wesithandathu isifo eso kwizigulane abangaphezu kweminyaka engama-20, kodwa kulo mzekelo, ombane yemfuza akuthethi ukudlala indima ekhethekileyo.

Kubalulekile ukuqaphela ukuba izigulane abaselula, iintlobo ezimbini kuphela sifo: uhlobo neurofibromatosis 1 neurofibromatosis type 2.

iimpawu

Ngokutsho kweengcali, malunga isinye kwisithathu izigulane ixesha elide kwaye onogada ubukho izifo. Kaninzi, ngenxa yokugula banesifo xa kuhlolwa elandelayo. Oogqirha bathi ubukho maqhuqhuva ezincinane phantsi kwesikhumba.

Eyesithathu yesibini izigulana neurofibromatosis sifo ayinakubhaqa ukubonakala nayiphi luvo ukuphazamiseka indalo.

Abantu abaninzi bafunde isigulo zabo kuphela emva kotyelelo ukuya wonobuhle. amabala Brown abonakale ebusweni, emva omzimba. Yiyo lo mqondiso zonyango, njengoko umthetho, kwaye isizathu sokuba udluliseiwe yincutshe.

Kubalulekile ukuqaphela ukuba kancinci wabonakalisa neurofibromatosis ebantwaneni. Iimpawu kakhulu amaninzi zisusela kwimihla yokuqala yobomi. Apha ngokuyintloko sithetha amabala amaninzi ulwehlo apha esikhumbeni. Njengoko elivisayo, wafumana nangezilonda ezincinane zobungakanani neemilo. Olu hlobo neurofibromas ibe kuphela ikhulu ambalwa okanye ngaphezulu. Kwezinye izigulane, kukho utshintsho kuphahla (zokufota, hip ukukhubazeka womonakalo ithambo ukakayi emehlweni).

Kubalulekile ukuqaphela ukuba thumba utshisa nayiphi luvo emzimbeni, kodwa ubukhulu becala kwiiseli yeengcambu-luvo kuvuka. Kulo mzekelo, bona musa esingenakubangela naliphi na ukunyhashwa ezinzulu. Ukuba Ithumba kuchaphazela ngqo umnqonqo, kukho ingozi enkulu kwimpilo umguli.

Neurofibromatosis Recklinghausen (type 1) idla esizibonakalisa besebancinane. Ngenxa yesi sifo luphawulwa ukuyilwa amabala ubudala likhanyise umbala omdaka. Okubangel 'umdla kukuba, nazo zivavanyelwe kungafunyanwa abantwana uphilile. Ukuba ngaphezu ezintlanu amabala ezinjalo emzimbeni sangqa-5 mm okanye ngaphezulu kuyimfuneko ukuqhuba uvavanyo diagnostic ukuze ayiyeke izifo ezifana Recklinghausen neurofibromatosis.

Uhlobo lwesibini sifo amaninzi une elivisayo. Lubonakala yi ukuyilwa yamathumba ezichaphazela luvo eziviwayo. Ukongeza, izigulane uhlaselwe, ikhalisa ezindlebeni, intloko ebuhlungu kunye nezigulo vestibular.

ekuxilongweni

Kwindawo yokuqala ukuqinisekisa esi sifo ifuna axilongwe, iimpawu ngokucacileyo clinical avumele ukuxilongwa. Noko ke, kwezinye iimeko, oko kufuna elongeziweyo loviwo. Ugqirha kufuneka athathe ingqalelo iintlobo zikhankanywe apha ngasentla neurofibromatosis ngenxa uxilongo lokugqibela.

Disease Recklinghausen bukaThixo kuqinisekiswa yi phambi kwesi umguli ubuncinane ezimbini kwezi mpawu zilandelayo:

• Lisch maqhuqhuva.
• amabala Brown of umbala omdaka yaye isixa esithile nobukhulu.
• ukungaqheleki ezithile ithambo.
• neurofibromas ezimbini okanye ngaphezulu.
• Hyperpigmentation ekhwapheni kummandla / ubudoda.
• Ubukho sifo nezizalwane.

Ukuze Ufundo ngakumbi ugqirha ekhoyo yamathumba ngokuqhelekileyo omisela i MRI,-X-reyi kwaye CT. Radiograph kuyimfuneko ukubona ukutyeshelwa bomashini ithambo kunokwenzeka.

Ukufumana uhlobo lwesibini lwesifo kuthetha i audiogram. Esi sifundo ikhethekileyo apho kuqikelelwa ubungqongqo wokuxoxwa yesigulane.

Kungakhathaliseki ukuba uhlobo esi sifo Kucetyiswa ukuba bonke, ngaphandle kokukhetha, ebizwa ngokuba yi-analysis of neurofibromatosis. Lowo uthetha ngokwaso uvavanyo zixhaphakileyo yemfuza, kuquka azalwe. Le ndlela yokugqibela - kodwa uhlahlelo ulwelo fluid okanye villi chorionic.

Nini kwaye yintoni kufuneka ngokuba kwagqirha

Okokuqala kufanele kuqatshelwe ukuba unyango lwesi sifo kakhulu amaninzi inxaxheba iingcali ezininzi. Emine ukubukela nomonde umfana ebuntwaneni, yaye kamva kwangenelela abanye oogqirha. Njengoko sele kukhankanyiwe ngentla apha, eli neurofibromatosis sisifo ilifa elo lu dityanisiwe kuguquka zofuzo ezithile. Ngoko ke, unyango olukhulu okwangoku zinika oogqirha abakwazi. Kwimeko wokuzila kuphokozela esi sifo kukho imfuneko kwi unyango ngotyando ukuba neurofibromas abekiwe enyama yangaphakathi. Neurosurgeons e emagxeni, njengoko umthetho, ukuba noxanduva maqhuqhuva ithumba, nto leyo nayo isusiwe.

Yintoni kufanele baphathwe

amayeza Modern akunamandla okunikela iindlela olukhulu unyango lwesi sifo. Yiloo nto oogqirha ukuba ukumisela unyango nomqondiso. Luquka yokwamkela amanye amaqela iziyobisi ( "Ketotifen", "Fenkarol", "Tigazon") ukubuyisela iinkqubo pathways emzimbeni kunye nokunciphisa iimpawu kwezonyango izifo ezifana neurofibromatosis.

Unyango emiselweyo kunye nogqirha rhoqo ngabanye kuphela, kuthathelwa ingqalelo izinto ezibonisa ezithile zesi sifo. Ekuqeshweni unyango kwakhona kuthathelwa ingqalelo iziphumo uhlahlelo yemfuza, kokugqitywa wezamathambo, zamehlo kunye Oncology.

Kwaye isoloko ifuna ungenelelo olukhawulezileyo yotyando. Kubalulekile ukuqaphela ukuba asuse onke amaziko ithumba kunokuba kunqabile kakhulu kungenxa yokwanda eliphezulu kwinkqubo. Kwezinye iimeko, kufuneka Ukongezelela isikhumba grafts. Yayibubungqina ephambili kutyando zezi zilandelayo: intlungu kakhulu kummandla ochaphazelekayo, inaba iindawo, yobubi, ukuphazamiseka amalungu abalulekileyo. Xa utyando ukuba linini na kunqabile kakhulu, njengoko kunokwenzeka ngakumbi ukuba sibe sibi neurofibromatosis. Abantu abahlala amayeza Unyango engamkelekanga.

Namhlanje siyazi inani elikhulu ukuqhambuka kwesi sifo, nto leyo kwenzeka ngenxa nezinye izifo. Kungenxa yoko le nto kubaluleke kangaka ukuba ushiye ingxaki ebumnandini.

iingxaki kunokwenzeka

Njengoko sele kutshiwo ngentla apha, ukuba akuyi kusala abantwana bengahoywanga neurofibromatosis. Unyango kufuneka ngexesha kwaye ngokufanelekileyo. Kungenjalo, amathuba aphezulu kakhulu iingxaki ezichaphazela impilo ngokwasengqondweni kwaye yesigulana entsha, izinga lokuphila kwakhe. Iingcali ukubona iingxaki zilandelayo kunokwenzeka:

• Kwegazi.
• Zesifo (elibukelweyo ngo-40% amatyala ebantwaneni kunye uhlobo lokuqala lokugula).
• Isithulu.
• ukuphazamiseka Speech.
• Zokufota.
• ukufiphala kwamehlo.
• Ukulibaziseka uphuhliso ngokwesondo.

Neurofibromatosis ebantwaneni, iimpawu eziye ichazwe ngasentla, ifuna kweliso esisigxina mandatory zonyango, uthintelo lwe iingxaki. ugqirha wakho usenokuncomela amanyathelo kwisimo xa kuyimfuneko.

Ukulahleka izigcawu neurofibromatosis Uhlobo lwesibini kuthathwa inkomba ucwangcisa koko iye ezindlebeni okhethekileyo. Icebo gqolo adlulisele imiqondiso audio ingqondo ivumela umntwana ukuqonda izandi siqaphele intetho.

ukuvimbela

Ngelishwa, oogqirha njengangoku ukunika asebenzayo okunqanda esi sifo. Eyona nto kukuba ekugqibeleni izinto zayo azikhange zisafundwa. Iingcali isindululo kuphela esweni rhoqo impilo umntwana, wamsa rhoqo iimviwo zonyango.

Xa kufuneka isaziso neurofibromatosis

Xa abantwana, iimpawu kuqala ukuvela ngokohlobo amabala ukukhanya mdaka apha esikhumbeni. Ukuba umntwana wakho ezi mpawu, kubalulekile ukuba ubonane specialist lokulawula lo Sifo kuyo.

Ukuba neurofibromatosis sele ozinzisiweyo, kufuneka basoko belwakhele umkhanya uxanduva imeko yomguli encinane, ithumba ukwakhiwa. Ekwandeni yokugqibela kucetyiswa ukuba ucele uncedo abaqeqeshiweyo.

Eyona nto ibalulekileyo kulo mba - ukubona isifo kwangethuba kangangoko kunokwenzeka. Ngokutsho manani, malunga-60% yabantwana nalo unesifo nemiqondiso wobulali kakhulu sisifo. Ngaphezu koko, abaninzi kufuneka unyango olulodwa.

Ngoko ke, kuyacaca ukuba musa ukoyika izifo ezifana neurofibromatosis ebantwaneni ngaphambi kwexesha. Amafoto ezigulane abaselula aye abonisa ngokucacileyo ukuba lo ngezifo baphile. Kakade ke, abantwana iintlobo kakhulu ngakumbi esi sifo isoloko kuvela iingxaki. Noko ke, ngoncedo nenkxaso rhoqo bangaphila onemveliso kakhulu, kwaye okona kubaluleke kakhulu, ubomi onwabile.