Ingabe unezimpawu ezingajwayelekile zesikhumba sakho noma uhlelo lwakho lwezinzwa? Ake sifunde ngale (Neurocutaneous Syndrome)!

Wake waphawula ukuthi abanye abantu banamabala noma amaqhubu angavamile esikhumbeni sabo? Ngezinye izikhathi lokhu kungaba okungaphezu nje kwenkinga yesikhumba. Namuhla sizokhuluma ngeqembu lezifo eziyinkimbinkimbi kancane, kodwa okubaluleke kakhulu ukuzazi. Sizibiza ngokuthi ama-neurocutaneous syndromes . Nakuba igama lingase lizwakale liyesabeka kancane, masiliqonde kalula.

Ziyini lezi zifo ze-neurocutaneous?

Kalula nje, ama-neurocutaneous syndromes ayiqembu lezifo ezithinta isikhumba sethu kanye nohlelo lwezinzwa (okungukuthi, ubuchopho, umgogodla, kanye nemizwa). Lezi zimo zingabangela ukwakheka kwamathumba ezingxenyeni ezahlukene zomzimba, ikakhulukazi isikhumba kanye nohlelo lwezinzwa. Amanye ala mathumba angaba nomdlavuza, kanti amanye angaba umdlavuza (amaqhubu nje).

Into ebalulekile ukuthi lezi zimo zizalwa nazo. Lokhu kusho ukuthi umuntu uzalwa nalesi simo. Kodwa-ke, ngezinye izikhathi izimpawu zingathatha isikhathi ukuvela, ngezinye izikhathi esemusha noma ngisho nakamuva. Leli qembu lezifo libizwa nangokuthi i-Phakomatoses . Njengoba lelo gama lingavamile kakhulu, masikhumbule ukuthi libizwa ngokuthi i-neurocutaneous syndrome.

Zivame kangakanani lezi zimo?

Eqinisweni, leli qembu lezifo ezibizwa ngokuthi ama-neurocutaneous syndromes alivamile kakhulu . Kodwa-ke, ezinye zazo zibonakala kaningi kunezinye. Isibonelo:

• I-Neurofibromatosis uhlobo 1 (NF1): Lesi yisimo esivame kakhulu kuleli qembu. Sithinta cishe umuntu oyedwa kwabangu-3,000 .
• I-Neurofibromatosis uhlobo 2 (NF2): Lokhu akuvamile neze. Kuthinta cishe umuntu oyedwa kwabangu-25,000 .
• I-Tuberous Sclerosis : Lokhu nakho akuvamile, kuthinta cishe umuntu oyedwa kwabangu-6,000 .

Uyabona? Lezi azivamile njengezifo zansuku zonke. Kodwa uma wena noma othile omaziyo enesifo esifana nalesi, kubaluleke kakhulu ukuqaphela.

Ziyini izimpawu ze-neurocutaneous syndrome?

Izimpawu eziyinhloko zalezi zimo ukukhula okungajwayelekile noma amaqhubu esikhumbeni kanye nohlelo lwezinzwa . Ngaphezu kwalokhu, lezi zimpawu zingathinta nohlelo lwethu lwamathambo (okungukuthi, amathambo ethu) kanye nezinye izitho zomzimba. Ngakho-ke, izimpawu ezifana nalezi:

• Izinkinga zokulinganisela lapho uhamba (uzizwa sengathi ulahlekelwa ibhalansi yakho).
• Ukukhubazeka kokuzwa (ukwehla kokuzwa).
• Izinkinga zokubona (izinkinga ezahlukahlukene ngokubona).

Kodwa-ke, akuzona zonke izifo ze-neurocutaneous ezinezimpawu ezifanayo. Izimpawu ziyahlukahluka kuye ngesimo. Ake sibheke izibonelo ezimbalwa:

• I-Incontinentia Pigmenti (IP): Lesi yisimo lapho ukuqubuka kuqala njengamaqhubu esikhumbeni bese kamuva kuphenduka ukuqubuka okufana nesibazi . Ngezinye izikhathi, lokhu kungahambisana nezinkinga zezinzwa. Cabanga ngengane encane evele ibe namaqhubu esikhumbeni sayo ngokuzumayo, bese yoma, ishiye izindawo ezibukeka zingajwayelekile.
• Uhlobo lwe-Neurofibromatosis 1 (NF1): Lokhu kuvame ukubangela ukukhula kwezicubu ezithambile ezingezona umdlavuza . Ukushintsha kombala wesikhumba, njengezimpawu zokuzalwa ezinsundu (ezibizwa nangokuthi amabala e-café-au-lait) kanye namabala amancane emigoqweni yesikhumba (njengemakhwapheni nasezinsikeni), kungenzeka. Ngezinye izikhathi, ukukhula kungavela nasemehlweni.
• Uhlobo lwe-Neurofibromatosis 2 (NF2): Lesi simo sibangela kakhulu ama-neuromas e-acoustic , angabangela izinkinga zokubona, ukulahlekelwa ukuzwa, kanye nezimpawu zokuzalwa ezinsundu ngokukhanyayo.
• I-Schwannomatosis : Lokhu kungabangela izimpawu ezifana nokungazweli, ubuthakathaka bemisipha, ukulahlekelwa ukuzwa, kanye nobuhlungu obukhulu .
• I-Sturge-Weber Syndrome : Lesi yisimo lapho kuvela khona ibala elikhulu elibomvu elimnyama, elibizwa nge-port-wine stain kolunye uhlangothi lobuso. Kungabangela nezinguquko emithanjeni yegazi ebuchosheni kanye ne-glaucoma , isimo esibangela ukucindezeleka okukhulu emehlweni. Abanye abantu bangase babe nokuquleka kanye nokukhubazeka kwengqondo.
• I-Tuberous Sclerosis : Lesi simo sivame ukubangela izinkinga ebuchosheni, emehlweni, esikhumbeni, enhliziyweni, nasemaphashini . Uphawu oluyinhloko ukwakheka kwamaqhubu angewona umdlavuza ezithweni ezahlukahlukene zomzimba.
• Isifo sikaVon Hippel-Lindau : Lokhu kungabangela izimila ezibizwa ngokuthi i-hemangioblastomas kanye ne-angiomas ezindlaleni ze-adrenal , amehlo, ubuchopho kanye nezinso.

Ngemva kokulalela le ncazelo, cishe uyaqonda ukuthi lezi zimo zihlukahlukene futhi ziyinkimbinkimbi kangakanani. Yingakho kubalulekile ukufuna iseluleko sezokwelapha ngokushesha uma unalezi zimpawu.

Ingabe i-neurocutaneous syndrome ingabangela izinkinga?

Yebo, ngeshwa, abantu abane-neurocutaneous syndromes basengozini enkulu yokuthola izinhlobo ezithile zomdlavuza . Ngaphezu kwalokho, kunengozi yezinye izinkinga ngenxa yalezi zimo. Ezinye zazo yilezi:

• Ukulibaziseka kokukhula`(Ukulibaziseka kokukhula)`: Ukwehluleka ukubona intuthuko efanele iminyaka, ikakhulukazi ezinganeni ezincane.
• Isifo Sokuxhuzula : Lokhu kusho ukuxhuzula .
• Ubuhlungu bekhanda : Ubuhlungu bekhanda obuvame ukwenzeka, ngezinye izikhathi obukhulu.
• Umfutho wegazi ophezulu (i-Hypertension).
• Ukukhubazeka kokufunda .
• Izinhlobo ezahlukene zezimila : Lezi zingaba umdlavuza noma zingabi umdlavuza.

Ngakho-ke, kubaluleke kakhulu ukuthi umuntu onalesi simo ahlale eqashwe ngudokotela.

Yini ebangela i-neurocutaneous syndrome?

Lezi zifo ze-neurocutaneous zibangelwa izinguquko ezithile (ukuguqulwa kwezakhi zofuzo ) emzimbeni wethu. Cabanga ngale ndlela: umzimba wethu ufana nohlelo olukhulu, futhi izakhi zofuzo ziyimiyalelo kulolo hlelo. Uma kukhona ushintsho oluncane kule miyalelo, lungathinta ukusebenza komzimba.

Ngezinye izikhathi, lezi zinguquko zofuzo zizuzwa njengefa kubazali ziya ezinganeni . Lokho kusho ukuthi zingadluliselwa ezizukulwaneni ngezizukulwane. Kodwa, akunjalo ngaso sonke isikhathi. Ngezinye izikhathi, lezi zinguquko zofuzo zingenzeka ngaphandle kwesizathu esicacile, ngaphandle komlando womndeni . Kufana nelotho, awusoze wazi ukuthi ubani ozoyithola.

Odokotela bazixilonga kanjani lezi zimo?

Ukuxilonga lezi zimo kungaba nzima kancane, njengoba izimpawu ziyahlukahluka.

Ezinganeni ezincane , odokotela bavame ukuqala "ngokuvakasha kwengane ephilile" emtholampilo wengane ephilile . Lapho, udokotela ubuza wena (mzali) ngezimpawu zengane yakho bese ehlola ukuthi ingane yakho iyahlangabezana yini " nezigaba zokukhula kwengane" (okungukuthi, ukuthi ngabe yenza izinto ezifanele iminyaka yayo, njengokumomotheka, ukukhasa, nokuhamba).

Izimpawu kubantu abadala zingase zivele kamuva ekuphileni. Ngisho nalapho, udokotela wakho uzokubuza ngezimpawu zakho bese ekwenza ukuhlolwa ngokomzimba.

Uma udokotela esola ukuthi une-neurocutaneous syndrome, uzoncoma ezinye izivivinyo eziningana eziqondile .

Hlobo luni lokuhlolwa olusetshenziswayo ukuhlonza lokhu?

Odokotela bavame ukusebenzisa ukuhlolwa kwegazi kanye nokuhlolwa okuhlukahlukene kwezithombe ukuze bathole lezi zimo. Udokotela wakho angase akuncomele ukuhlolwa okufana nalokhu:

• Ukuskena kwe -CT
• I-EEG (i-Electroencephalogram - i-EEG): Lokhu kuhlola ukusebenza kukagesi kobuchopho, ikakhulukazi ukuhlola izimo ezifana nesifo sokuwa.
• Ukuhlolwa kwelebhu : Lokhu kungaba ukuhlolwa kwegazi noma komchamo.
• Ukuskena kwe-MRI `(MRI)`
• i-biopsy yesikhumba nomaUkuhlolwa kwe-tumor biopsy: Lokhu kuhilela ukuthatha isampula encane yesikhumba noma iqhubu bese ulihlola ngaphansi kwe-microscope.

Kusekelwe olwazini olutholwe kulezi zivivinyo ukuthi udokotela angenza ukuxilongwa okuqondile.

Ziphathwa kanjani lezi zifo ze-neurocutaneous?

Okubalulekile, akukabikho ukwelashwa okungayelapha ngokuphelele le nkinga ye-neurocutaneous.

Lokhu kungase kuzwakale kudabukisa ukuzwa, kodwa ungalilahli ithemba. Nakuba lezi zimo zingelapheki, izimpawu ezivelayo zingelashwa . Okusho ukuthi, uma kukhona ubuhlungu obubangelwa yiqhubu, kukhona isifo sokuwa, kunezinkinga zesikhumba, njalo njalo, kunikezwa ukwelashwa kumpawu ngayinye.

Umgomo oyinhloko wokwelashwa ukugcina ikhwalithi yempilo yesiguli ingcono kakhulu ngangokunokwenzeka nokulawula ukuvela kwezinkinga.

Uma ingane yami inalesi simo, ngingayisiza kanjani?

Njengomzali, ungase uzizwe unemizwa eminingi uma uthola ukuthi ingane yakho ine-neurocutaneous syndrome. Lokho kuvamile. Into ebaluleke kakhulu ukuthi lezi zingane zizodinga ukunakekelwa okukhethekile kanye nokubhekwa kwezokwelapha kukho konke ukuphila kwazo . Khuluma nodokotela wakho ukuze uthole ukuthi ungazinakekela kanjani izimpawu zengane yakho. Futhi cabanga ngalezi zinto:

• Bona noma yibaphi ochwepheshe abanconywa udokotela wakho.
• Thola ukuhlolwa komdlavuza okunconywayo ngesikhathi.
• Uma ingane yakho ithola izimpawu ezintsha , yazisa udokotela ngokushesha.

Ukuphila nalezi zimo kungaba yinselele, kodwa ngeseluleko esifanele sezokwelapha nokunakekelwa ngothando, lezo zinselele zinganqotshwa.

Uma ingane yami inalesi simo, obani ochwepheshe okufanele ibabone?

Ingane ene-neurocutaneous syndrome ingadinga izinsizakalo zochwepheshe abaningana. Udokotela wakho womndeni angahlela ukuthi uhlangane nalaba ochwepheshe. Ochwepheshe abavame ukudingeka yilaba:

• Udokotela Wezindlebe : Ngezinkinga zokuzwa.
• Udokotela Wesikhumba : Ngezinkinga zesikhumba.
• Udokotela Wezinzwa : Ngezinkinga ezihlobene nesimiso sezinzwa.
• Udokotela wamehlo : Ngezinkinga ezihlobene nombono.

Kungokusekelwa yibo bonke laba bantu lapho uhlelo lokwelapha olungcono kakhulu lwengane lungathuthukiswa khona.

Uma mina noma ingane yami sinalesi simo, yini okufanele ngiyilindele?

Uma wena noma ingane yakho ninesifo se-neurocutaneous syndrome, kufanele nibe nokuhlolwa njalo kwezokwelapha.Kungase kudingeke uhambe. Lokhu kwenzelwa ukuhlola noma yikuphi ukukhula kwamaqhubu noma izinguquko ezimpawu zakho. Khuluma ngokukhululekile nodokotela wakho ngalokho ongakulindela ngokusekelwe ku-neurocutaneous syndrome yakho ethile.

Ingabe lesi sifo se-neurocutaneous singelapheka?

Cha, njengoba sesishilo ngaphambili, alikho ikhambi lalesi sifo se-neurocutaneous. Kodwa-ke, ithimba lakho lezokwelapha lingakusiza ukuthi uphathe izimpawu ezikuthintayo noma ezithinta ingane yakho. Ngakho-ke, ungalahli ithemba.

Ingabe ikhona indlela yokuvimbela lezi zimo?

Lezi zifo ze-neurocutaneous azinakuvinjelwa ngoba zibangelwa izinguquko zofuzo. Kodwa-ke, ukuhlolwa kofuzo kanye nokwelulekwa ngaphambi kokukhulelwa kungakusiza ukuthi uqonde ukuthi usengozini yokudlulisela ukukhubazeka kofuzo enganeni yakho.

Ngingazi kanjani ukuthi ngisengozini yokuthola lesi simo?

Uma othile emndenini wakho ene-neurocutaneous syndrome, wena (noma ingane yakho) ningaba sengozini encane yokuthola lezi zimo. Ngakho-ke, uma othile emndenini wakho enalesi sifo, tshela udokotela wakho. Udokotela wakho angancoma ukuhlolwa kwezakhi zofuzo ukuze kuhlolwe ukuguquka kwezakhi zofuzo, uma kudingeka.

Ekugcineni, umyalezo okufanele uwuthathe uye nawo ekhaya

Ama-neurocutaneous syndromes yizimo zofuzo ezithinta impilo yakho yonke ezingathinta uhlelo lwakho lwezinzwa, isikhumba, nezinye izitho zomzimba. Kuvamile ukuzizwa wesaba futhi ukhathazekile uma uthola ukuthi unalesi simo.

Into ebalulekile ukwazi ukuthi awuwedwa. Ukuhlonza uhlobo oluthile lwe-neurocutaneous syndrome yakho nokuthola ithimba lezokwelapha elikhethekile ekwelapheni kuyindlela engcono kakhulu yokuqinisekisa ukuthi uthola ukunakekelwa okungcono kakhulu nokwelashwa okufanele.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Uma unemibuzo, ungangabazi ukukhuluma nodokotela wakho. Hlala uphilile!

Ama- neurocutaneous syndromes, ama-neurocutaneous syndromes, izifo zofuzo, amaqhubu esikhumba, izifo zesimiso sezinzwa, i-NF1, i-NF2, i-tuberous sclerosis, ama-phacomatoses