Ngaba uneempawu ezingaqhelekanga zesikhumba sakho okanye inkqubo yakho yemithambo-luvo? Masifunde ngale (Neurocutaneous Syndrome)!

Ngaba wakha waphawula ukuba abanye abantu banamabala okanye amaqhuma angaqhelekanga eluswini lwabo? Ngamanye amaxesha la magama anokuba yinto engaphezulu nje kwengxaki yesikhumba. Namhlanje siza kuthetha ngeqela lezifo ezintsonkothileyo kancinci, kodwa ezibalulekileyo ukuzazi. Ezi zifo sizibiza ngokuba zii-neurocutaneous syndromes . Nangona eli gama lisenokuvakala lisoyikisa kancinci, masiliqonde ngokulula.

Zithini ezi zifo ze-neurocutaneous?

Ngamafutshane, ii-neurocutaneous syndromes liqela lezifo ezichaphazela ulusu lwethu kunye nenkqubo yemithambo-luvo (oko kukuthi, ingqondo, umgogodla, kunye nemithambo-luvo). Ezi meko zinokubangela ukuba iithumba zivele kwiindawo ezahlukeneyo zomzimba, ingakumbi ulusu kunye nenkqubo yemithambo-luvo. Ezinye zezi thumba zinokuba ngumhlaza, ngelixa ezinye zinokuba zingezizo umhlaza (ngamaqhuma nje).

Into ebalulekileyo kukuba ezi meko zizalwa nazo. Oku kuthetha ukuba umntu uzalwa enale meko. Nangona kunjalo, ngamanye amaxesha iimpawu zingathatha ixesha ukuba zibonakale, ngamanye amaxesha xa esekwishumi elivisayo okanye kamva. Eli qela lezifo likwabizwa ngokuba yiPhakomatoses . Ekubeni elo gama lingaqhelekanga, masikhumbule ukuba libizwa ngokuba yi-neurocutaneous syndrome.

Zixhaphake kangakanani ezi meko?

Enyanisweni, olu luhlu lwezifo ezibizwa ngokuba yi-neurocutaneous syndromes aluqhelekanga kakhulu . Nangona kunjalo, ezinye zazo zibonakala rhoqo kunezinye. Umzekelo:

• Uhlobo lwe-Neurofibromatosis 1 (NF1): Le yeyona meko ixhaphakileyo kweli qela. Ichaphazela malunga nomntu omnye kwabayi-3,000 .
• Uhlobo lwe-Neurofibromatosis 2 (NF2): Olu hlobo aluxhaphakanga kangako. Luchaphazela umntu omnye kwabangama-25,000 .
• Isifo se-Tuberous Sclerosis : Oku kunqabile kakhulu, kuchaphazela umntu omnye kwabayi-6,000 .

Uyabona? Ezi azixhaphakanga njengezifo zemihla ngemihla. Kodwa ukuba wena okanye umntu omaziyo unento efana nale, kubaluleke kakhulu ukuba uyazi.

Zithini iimpawu ze-neurocutaneous syndrome?

Iimpawu eziphambili zezi meko kukukhula okungaqhelekanga okanye amaqhuma eluswini nakwinkqubo yemithambo-luvo . Ukongeza kwezi, ezi syndromes zinokuchaphazela inkqubo yethu yamathambo (oko kukuthi, amathambo ethu) kunye namanye amalungu omzimba. Ke ngoko, iimpawu ezifana nezi:

• Iingxaki zokulinganisela xa uhamba (uzive ngathi ulahlekelwa kukulinganisela kwakho).
• Ukuphazamiseka kokuva (ukuncipha kokuva).
• Iingxaki zokubona (iingxaki ezahlukeneyo zokubona).

Nangona kunjalo, ayizizo zonke izifo ze-neurocutaneous ezineempawu ezifanayo. Iimpawu ziyahluka ngokuxhomekeke kwimeko. Makhe sijonge imizekelo embalwa:

• I-Incontinentia Pigmenti (IP): Le yimeko apho irhashalala iqala njengeempukane eluswini ize kamva ikhule ibe yimpukane efana nenxeba . Ngamanye amaxesha, oku kunokuhambisana neengxaki zemithambo-luvo. Khawucinge ngomntwana omncinci ovele ngequbuliso iimpukane eluswini lwakhe, ezithi zome, zishiye amabala angaqhelekanga.
• Uhlobo lwe-Neurofibromatosis 1 (NF1): Oku kudla ngokubangela ukukhula kwezicubu ezithambileyo ezingengomhlaza . Ukutshintsha kombala wolusu, njengeempawu zokuzalwa ezimdaka (ezikwabizwa ngokuba ngamabala e-café-au-lait) kunye namabala amancinci kwimiphetho yolusu (njengeengalo kunye ne-groin), kunokwenzeka. Ngamanye amaxesha, ukukhula kunokubakho nasemehlweni.
• Uhlobo lwe-Neurofibromatosis 2 (NF2): Le meko ibangela ikakhulu ii-neuromas ze-acoustic , ezinokubangela iingxaki zokubona, ukulahlekelwa kukuva, kunye nee-birthmarks ezimdaka ngombala.
• I-Schwannomatosis : Oku kunokubangela iimpawu ezinje ngokuba ndindisholo, ubuthathaka bemisipha, ukuva, kunye nentlungu eqatha .
• I-Sturge-Weber Syndrome : Le yimeko apho kuvela khona ibala elikhulu, elibomvu elimnyama, le-port-wine kwelinye icala lobuso. Inokubangela utshintsho kwimithambo yegazi engqondweni kunye ne -glaucoma , imeko ebangela uxinzelelo oluphezulu emehlweni. Abanye abantu banokufumana ukuxhuzula kunye nokukhubazeka kwengqondo.
• I-Tuberous Sclerosis : Le meko idla ngokubangela iingxaki engqondweni, emehlweni, elusu, entliziyweni, nasemiphungeni . Uphawu oluphambili kukukhula kwamaqhuqhuva angengomhlaza kwizitho ezahlukeneyo zomzimba.
• Isifo sikaVon Hippel-Lindau : Oku kunokubangela iithumba ezibizwa ngokuba yi -hemangioblastomas kunye ne-angiomas kwi -adrenal glands , emehlweni, engqondweni, nasezintsoni.

Emva kokumamela le nkcazo, mhlawumbi uyaqonda ukuba ezi meko zahlukahlukene kwaye zinzima kangakanani. Yiyo loo nto kubalulekile ukufuna ingcebiso kagqirha ngokukhawuleza ukuba unezi mpawu.

Ngaba isifo se-neurocutaneous syndrome singabangela iingxaki?

Ewe, ngelishwa, abantu abane-neurocutaneous syndromes basengozini enkulu yokuhlaselwa ziintlobo ezithile zomhlaza . Ukongeza, kukho umngcipheko wezinye iingxaki ngenxa yezi meko. Ezinye zazo zezi:

• Ukulibaziseka kophuhliso`(Ukulibaziseka kophuhliso)`: Ukungaphumeleli ukubona uphuhliso olufanelekileyo ngokweminyaka, ingakumbi kubantwana abancinci.
• Isifo sokuwa : Oku kuthetha ukuxhuzula .
• Intloko ebuhlungu : Iintloko ezibuhlungu ezihlala zihleli, ngamanye amaxesha ezibuhlungu.
• Uxinzelelo lwegazi oluphezulu (uxinzelelo lwegazi oluphezulu).
• Ukukhubazeka kokufunda .
• Iintlobo ezahlukeneyo zeethumba : Ezi zisenokuba ngumhlaza okanye azinakuba ngumhlaza.

Kungoko ke, kubaluleke kakhulu ukuba umntu onesi sifo ahlale ejongiwe ngugqirha.

Yintoni ebangela i-neurocutaneous syndrome?

Ezi mpawu ze-neurocutaneous zibangelwa lutshintsho oluthile (utshintsho) kwiijini emzimbeni wethu. Cinga ngale ndlela: umzimba wethu ufana neplani enkulu, kwaye iijini ziyimiyalelo kuloo plani. Ukuba kukho utshintsho oluncinci kwezi miyalelo, lunokuchaphazela ukusebenza komzimba.

Ngamanye amaxesha, olu tshintsho lwemfuza lufunyanwa ngabazali ukuya ebantwaneni . Oko kuthetha ukuba lunokudluliselwa kwizizukulwana ngezizukulwana. Kodwa, akunjalo rhoqo. Ngamanye amaxesha, olu tshintsho lwemfuza lunokwenzeka ngaphandle kwesizathu esicacileyo, ngaphandle kwembali yosapho . Kufana nelotho, awusoze wazi ukuba ngubani oza kuyifumana.

Oogqirha bazixilonga njani ezi meko?

Ukufumanisa ezi meko kunokuba nzima kancinci, njengoko iimpawu zahlukile.

Kubantwana abancinci , oogqirha badla ngokuqala "ngotyelelo lomntwana ophilileyo" kwikliniki yabantwana abaphilileyo . Apho, ugqirha ubuza wena (mzali) ngeempawu zomntwana wakho aze ahlole ukuba umntwana wakho uyahlangabezana na " neembasa zophuhliso lomntwana" (oko kukuthi, ukuba wenza izinto ezifanelekileyo kubudala bakhe, njengokuncuma, ukukhasa, nokuhamba).

Iimpawu kubantu abadala zinokubonakala kamva ebomini. Nangona kunjalo, ugqirha wakho uza kukubuza ngeempawu zakho aze enze uvavanyo lomzimba.

Ukuba ugqirha urhanela ukuba une-neurocutaneous syndrome, uza kucebisa ezinye iimvavanyo ezithile .

Luhlobo luni lovavanyo olusetyenziswayo ukuchonga ezi?

Oogqirha badla ngokusebenzisa iimvavanyo zegazi kunye neemvavanyo ezahlukeneyo zokuthatha imifanekiso ukuze bafumanise ezi meko. Ugqirha wakho unokucebisa iimvavanyo ezifana nezi:

• Iskeni ye-CT
• I-EEG (i-Electroencephalogram - i-EEG): Oku kuvavanya ukusebenza kombane kwengqondo, ingakumbi ukujonga iimeko ezifana nokuxhuzula.
• Uvavanyo lwelebhu : Olu luvavanyo lwegazi okanye lomchamo.
• Iskeni se-MRI `(MRI)`
• i-biopsy yolusu okanyeUvavanyo lwe-tumor biopsy: Oku kuquka ukuthatha isampuli encinci yolusu okanye iqhubu uze ulihlolisise phantsi kwe-microscope.

Ngokusekelwe kulwazi olufunyenwe kwezi mvavanyo, ugqirha angenza uxilongo oluchanekileyo.

Zinyangwa njani ezi zifo ze-neurocutaneous?

Okubalulekileyo kukuba, akukabikho unyango olunokunyanga ngokupheleleyo esi sifo se-neurocutaneous.

Oku kusenokuvakala kubuhlungu ukukuva, kodwa ungalahli ithemba. Nangona ezi meko zingenakunyangwa, iimpawu ezivelayo zinokunyangwa . Oko kukuthi, ukuba kukho iintlungu ezibangelwa yiqhuma, kukho isifo sokuwa, kukho iingxaki zolusu, njalo njalo, unyango lunikwa uphawu ngalunye.

Injongo ephambili yonyango kukugcina umgangatho wobomi besigulana ungcono kangangoko kunokwenzeka nokulawula ukwenzeka kweengxaki.

Ukuba umntwana wam unale meko, ndingamnceda njani?

Njengomzali, usenokuba neemvakalelo ezininzi xa ufumanisa ukuba umntwana wakho unesifo se-neurocutaneous syndrome. Yinto eqhelekileyo leyo. Eyona nto ibalulekileyo kukuba aba bantwana baya kufuna unyango olukhethekileyo kunye nolawulo lwezonyango ubomi babo bonke . Thetha nogqirha wakho ukuze ufumane indlela yokunyamekela iimpawu zomntwana wakho. Kwakhona cinga ngezi zinto:

• Bona naziphi na iingcali ezicetyiswa ngugqirha wakho.
• Fumana uhlolo lomhlaza olucetyiswayo kwangexesha.
• Ukuba umntwana wakho ufumana naziphi na iimpawu ezintsha , yazisa ugqirha ngoko nangoko.

Ukuphila nezi meko kunokuba nzima, kodwa ngeengcebiso zonyango ezifanelekileyo kunye nenkathalo yothando, ezo ngxaki zinokoyiswa.

Ukuba umntwana wam unale meko, zeziphi iingcali ekufuneka azibone?

Umntwana one-neurocutaneous syndrome unokufuna iinkonzo zeengcali ezininzi. Ugqirha wakho wosapho angakulungiselela ukuba udibane nezi ngcali. Iingcali ezifuneka kakhulu zezi:

• Ingcali ye-Audiologist : Kwiingxaki zokuva.
• Ingcali yolusu : Ngeengxaki zolusu.
• Ingcali yezifo zengqondo : Ngeengxaki ezinxulumene nenkqubo yemithambo-luvo.
• Ingcali yamehlo : Kwiingxaki ezinxulumene nombono.

Kungenkxaso yabo bonke aba bantu apho isicwangciso sonyango esingcono somntwana sinokuphuhliswa khona.

Ukuba mna okanye umntwana wam sinale meko, ndimele ndilindele ntoni?

Ukuba wena okanye umntwana wakho unesifo se-neurocutaneous syndrome, kufuneka nibe nentlanganiso rhoqo nogqirha.Kusenokufuneka uye. Oku kwenzelwa ukujonga naluphi na ukukhula kwamaqhuqhuva okanye utshintsho kwiimpawu zakho. Thetha ngokukhululekileyo nogqirha wakho malunga nento onokuyilindela ngokusekelwe kwi-neurocutaneous syndrome yakho.

Ngaba le ngxaki ye-neurocutaneous inganyangeka?

Hayi, njengoko besitshilo ngaphambili, akukho nyango lwale ngxaki ye-neurocutaneous. Nangona kunjalo, iqela lakho lezonyango linokukunceda ulawule iimpawu ezikuchaphazelayo wena okanye umntwana wakho. Ngoko ke, ungalahli ithemba.

Ngaba ikho indlela yokuthintela ezi meko?

Ezi zifo ze-neurocutaneous azinakuthintelwa kuba zibangelwa lutshintsho lwe-genetic. Nangona kunjalo, uvavanyo lwe-genetic kunye neengcebiso ngaphambi kokukhulelwa zinokukunceda uqonde ukuba usemngciphekweni wokudlulisela umntwana wakho isiphene se-genetic.

Ndingayazi njani ukuba ndisemngciphekweni wokufumana le meko?

Ukuba kukho umntu kusapho lwakho one-neurocutaneous syndrome, wena (okanye umntwana wakho) unokuba semngciphekweni omncinci wokuba nezi meko. Ke ngoko, ukuba kukho umntu kusapho lwakho onale syndrome, xelela ugqirha wakho. Ugqirha wakho unokucebisa uvavanyo lwe-genetic ukuze kuhlolwe utshintsho lwe-genetic, ukuba kuyimfuneko.

Okokugqibela, umyalezo oya ekhaya

Ii-neurocutaneous syndromes ziimeko zemfuza ezichaphazela inkqubo yakho yemithambo-luvo, ulusu, kunye nezinye izitho zomzimba. Kuqhelekile ukuba uzive usoyika kwaye uxhalabile xa ufumanisa ukuba unale meko.

Into ebalulekileyo kukwazi ukuba awuwedwa. Ukuchonga uhlobo oluthile lwe-neurocutaneous syndrome yakho nokufumana iqela lezonyango elikhethekileyo ekuyinyangeni yeyona ndlela ilungileyo yokuqinisekisa ukuba ufumana unyango olungcono kunye nonyango olufanelekileyo.

Ndiyathemba ukuba olu lwazi luza kukunceda. Ukuba unemibuzo, ungathandabuzi ukuthetha nogqirha wakho. Hlala usempilweni!

Ii- neurocutaneous syndromes, ii-neurocutaneous syndromes, izifo zemfuza, amaqhuqhuva esikhumba, izifo zenkqubo yemithambo-luvo, i-NF1, i-NF2, i-tuberous sclerosis, ii-phacomatoses