Ingabe isikhumba sakho sizwela kakhulu elangeni? Lokhu kungaba yi-(Xeroderma Pigmentosum - XP)!

Namuhla sizokhuluma ngesimo sempilo esingaziwa kangako, kodwa esibaluleke kakhulu. Wake waphawula ukuthi abanye abantu bashiswa yilanga futhi babomvu ngisho nangemva kokushiswa kancane elangeni? Ngezinye izikhathi lokhu kwenzeka nasezinganeni ezincane. Esinye isizathu esingaba khona salokhu yisimo esibizwa ngokuthi i-Xeroderma Pigmentosum , noma i-XP ngamafuphi. Namuhla sizokhuluma nje ngokuthi siyini, kungani senzeka, nokuthi singaphila kanjani naso.

Kusho ukuthini lokhu (XP)? Ake siqonde kahle!

Kalula nje, i-Xeroderma Pigmentosum (XP) iyisimo esingavamile sofuzo . Uma uzwa igama elithi "genetic," cishe ucabanga ngento efana nale. Okusho ukuthi, kuyinto esiyizuza njengefa kubazali bethu, noma kokubili. Abantu abanalesi simo banesikhumba esibucayi kakhulu emisebeni ye-ultraviolet (UV) evela elangeni. Uma sikhuluma iqiniso, isikhumba sabo sinzima ukumunca le misebe (ye-UV).

Ngokuvamile, izimpawu zalesi simo (XP) zivela ezingxenyeni zomzimba ezivame ukuchayeka elangeni. Isibonelo, ebusweni, ezandleni nasezindebeni . Ngokuvamile, lezi zimpawu ziqala ukuvela esemncane, okungukuthi, ebuntwaneni . Cabanga nje, ngisho nengane encane ingachayeka elangeni imizuzu embalwa nje, futhi isikhumba sayo singaba namabala futhi sishise (ukusha kwelanga okuqhumayo).

Ingabe umdlavuza (XP)? Lona umbuzo abantu abaningi abanawo!

Cha, i-XP ayiyona umdlavuza ngqo . Kodwa nansi iphuzu elibalulekile. Umuntu one-XP usengozini enkulu kakhulu yokuba nomdlavuza wesikhumba kunabanye.

Nakuba le ndaba iyesabisa kancane, kubalulekile ukuqaphela. Bheka lezi zibalo:

• Umuntu one-XP cishe unamathuba aphindwe kayi-10,000 okuthola umdlavuza wesikhumba ongeyona i-melanoma , njenge- basal cell carcinoma noma i-squamous cell carcinoma, kunomuntu ojwayelekile.
• Futhi, ingozi yokuba ne -melanoma, umdlavuza wesikhumba oyingozi kakhulu, iphakeme ngokuphindwe izikhathi ezingu-2,000 .

Ngaphezu kwalezi zimdlavuza zesikhumba, ezinye izifundo zithole ukuthi abantu abane-XP banengozi enkulu yokuthola ezinye izinhlobo zomdlavuza. Isibonelo:

• Izimila zobuchopho (i-Astrocytoma) , (i-Glioblastoma)
• Umdlavuza webele
• Umdlavuza wezinso
• I-Leukemia
• Umdlavuza wamaphaphu
• Umdlavuza we-pancreatic
• Umdlavuza wesisu
• Umdlavuza wamasende
• Umdlavuza we-thyroid
• Umdlavuza wesibeletho

Ungakhathazeki ngalolu hlu. Akuwona wonke la makhambi azokhula kubo bonke abaguli (XP). Kodwa-ke, kubalulekile ukuqaphela izingozi.

Sivame kangakanani lesi simo?

I-Xeroderma Pigmentosum yisimo esingavamile kakhulu . Kulinganiselwa ukuthi umuntu oyedwa kuphela kwabayisigidi emazweni afana ne-United States ne-Europe onalesi simo (XP).

Nokho, kuvame kakhulu kwezinye izingxenye zomhlaba. Isibonelo, eJapane, lesi simo sithinta cishe umuntu oyedwa kwabangu-22,000. Sivame kakhulu eNyakatho Afrika naseMpumalanga Ephakathi. Nakuba kungekho datha eqondile ngokusabalala kwaso eSri Lanka, sibhekwa njengesifo esingavamile.

Ziyini izimpawu ze-(XP)? Ake sizichaze!

(XP) Izimpawu zingahluka kumuntu nomuntu, kodwa zithinta kakhulu isikhumba, amehlo kanye nesimiso sezinzwa .

Izimpawu zesikhumba

Lezi yizimpawu ezivame ukubonakala:

• Ukushiswa yilanga okuqhumayo: Ngisho nangemva kwesikhathi esifushane sokuchayeka elangeni, isikhumba siyaqhuma futhi sishise.
• Isikhumba esomile nesincane (Xerosis): Isikhumba somile kakhulu, futhi singaba sincane njengephepha lesikhumba.
• Ama-Freckles (ama-Lentigos) ngaphambi kweminyaka engu-2: Ngokuvamile, izingane ezincane azibi nama-freckles zisencane kangaka.
• Amabala ombala wesikhumba owandisiwe nowehlile (i-Poikiloderma): Ezinye izindawo zingase zibe nsundu, kanti ezinye zingase zibe mhlophe.
• Ukuncipha kwesikhumba (Atrophy).
• Imigqa ebomvu esikhumbeni ebangelwa ukwanda kwemithambo yegazi - I-Telangiectasia: Ibonakala njengemigqa ebomvu ngoba imithambo yegazi emincane ibonakala ebusweni.

Ngaphezu kwalokho, abantu abane-XP basengozini enkulu yokuthola izilonda zesikhumba ezibizwa ngokuthi i-actinic keratoses, ezingaba umdlavuza .

Izimpawu zamehlo

Ngokuvamile, abantu abane-XP bangase babe nezimpawu zamehlo ngaphambi kweminyaka eyi-10 :

• Amehlo omile.
• Ukuwohloka/ukuwohloka kwamehlo.
• Ukuvuvukala kwe-cornea yakho (i-Keratitis).
• Ukuntuleka kokubonakala kwengqimba yangaphandle yeso lakho - Ukubonakala kwe-Cornea: Lokhu kusho ukuthi ingxenye yeso efana nesibuko iba namafu.
• Ukuzwela ekukhanyeni (Photophobia): Ubunzima bokubekezelela ngisho nokukhanya okuncane.
• Ukulahlekelwa izinkophe.

Ngokuhamba kwesikhathi, lezi zimpawu zingaholela ekulahlekelweni umbono, ngisho nokungaboni . Abantu abane-XP nabo basengozini yokuba nomdlavuza wamehlo .

Izimpawu ze-neurological

I-XP ingathinta nohlelo lwakho lwezinzwa. Cishe ingxenye yesine yabantu abane-XP bazoba nezimpawu ezihlobene nohlelo lwezinzwa. Izibonelo zifaka:

• I-Dysphagia - ubunzima bokugwinya.
• Ukulahlekelwa yi-reflexes.
• Ukulawulwa kabi kwemisipha (i-Ataxia) kanye nokuqina (i-Spasticity).
• Ukulahlekelwa okuqhubekayo kwamakhono okucabanga (okuqonda).
• Ukulahlekelwa ukuzwa okuqhubekayo okubangelwa ukulimala kwemizwa yangaphakathi kwendlebe.
• Usayizi wekhanda elincane (i-Microcephaly).
• Ukukhubazeka kwentambo yezwi.

Ochwepheshe bakholelwa ukuthi lezi zimpawu zibangelwa ukubhujiswa kwamangqamuzana ezinzwa ebuchosheni.

Iyini imbangela yokwakheka kwe-(XP)?

Njengoba sishilo ngaphambili, i-Xeroderma Pigmentosum iyisifo esibangelwa izakhi zofuzo . Lokhu kusho ukuthi lesi simo sibangelwa izinguquko ezithile ezingavamile (ukuguqulwa kwezakhi zofuzo) ezenzeka ezizakhi zofuzo emizimbeni yethu. Lezi zinguquko zezakhi zofuzo zingazuzwa kumama wakho, kuyihlo, noma kokubili. Kalula nje, kubangelwa ubuthakathaka bezakhi zofuzo ezisiza isikhumba sethu ukulungisa umonakalo obangelwa imisebe ye-UV.

Ngingathola kanjani ukuthi ngine (XP)?

Udokotela wakho angase asole ukuthi une-XP ngokusekelwe ezimpawini zakho. Ukuqinisekisa ukusola, bazokwenza ukuhlolwa kwegazi . Lokhu kuhlolwa kwegazi kuhlola ukuguquka kwezakhi zofuzo okubangela i-Xeroderma Pigmentosum.

Ingabe ikhona ikhambi eliphelele le-(XP)?

Ngeshwa, okwamanje akukho ukwelashwa kwe-Xeroderma Pigmentosum. Kodwa-ke, udokotela wakho angancoma izindlela zokwelapha ezahlukahlukene ukusiza ekunciphiseni izimpawu nokwenza impilo yakho ibe lula:

• Amaconsi Amehlo: Amaconsi agcobayo anganikezwa ukunciphisa ukuvuvukala komhlophe weso.
• Izinsiza zokuzwa: Uma kwenzeka ukulahlekelwa ukuzwa, izinsiza zokuzwa zingase zinikezwe. Kwezinye izimo ezinzima , kunganconywa ngisho nokufakelwa kwe-cochlear .
• Ukuhlinzwa: Uma uba nomdlavuza wesikhumba, ungadinga ukuhlinzwa ukuze ususwe. Noma ungadinga ukuhlinzwa ukuze welaphe izimo ezithile zamehlo, njengezinkophe ezigobile (i-ptosis) noma izinkinga ngomhlophe weso. Kwezinye izimo ezimbi kakhulu , kungadingeka ukufakelwa i-cornea .
• Izithasiselo ze-Vitamin D:Iningi labantu lithola i-vitamin D ngokukhanya kwelanga nokudla. Abantu abane-XP kudingeka bagweme ukukhanya kwelanga cishe ngokuphelele, ngakho-ke kudingeka bathathe isithasiselo se-vitamin D.

Ingabe i-XP ingavinjelwa?

Ngenxa yokuthi i-XP iyisimo sofuzo, ayikho indlela yokusivimbela ukuthi singabi khona . Uma udokotela wakho esola ukuthi une-gene mutation ebangela i-XP, ungenza ukuhlolwa kofuzo .

Ukuhlolwa kwezakhi zofuzo kungakutshela ukuthi unayo yini i-gene mutation. Umeluleki wezakhi zofuzo uzochaza imiphumela kuwe, izingozi ezihilelekile, kanye namathuba okuba nengane ene-XP.

Yini okufanele uyiqaphele uma uhlala ne-(XP)?

Uma une-Xeroderma Pigmentosum, kunezinto ezimbalwa okufanele uziqaphele ukuze ulondoloze impilo yakho iyonke. Lezi yizinto ezibaluleke kakhulu:

• Ukuvikelwa elangeni: Lesi yisinyathelo esibaluleke kakhulu ekuphatheni i-XP. Kubalulekile ukuvikela isikhumba sakho emisebeni ye-UV.
• Gqoka izingubo ezivikela ilanga . Lokhu kusho amahembe anemikhono emide, amabhulukwe amade, amasokisi, nezigqoko.
• Gqoka izibuko zelanga ezivimba i-UV .
• Sebenzisa i-sunscreen ene-spectrum ebanzi ene- SPF engu-35+ noma ngaphezulu nsuku zonke. Ngisho noma ingabukeki inelanga, imisebe ye-UV isakwazi ukufinyelela emafwini.
• Ochwepheshe batusa ukusebenzisa imitha yokukhanya ye-UV ukuthola ukuthi indawo yakho itholakala kuphi kakhulu emisebeni ye-UV futhi uyigweme. Ezinye izibani ezingaphakathi kwekhaya lakho nazo zingakhipha imisebe ye-UV, ngakho-ke qaphela nalokho.

• Ukuhlolwa kwamehlo: Bona udokotela wamehlo ukuze ahlolwe amehlo akho njalo. Uzohlola izinto ezifana nezinkophe ezigobile kanye nokuvuvukala kwamehlo. Hlola amehlo akho okungenani kanye ngonyaka, noma kaningi njengoba udokotela wakho encoma.

• Ukuhlolwa kwesikhumba: Bona udokotela wesikhumba njalo ezinyangeni eziyi-6 kuya kweziyi-12, noma kaningi njengoba udokotela wakho encoma. Bazohlola izimpawu zomdlavuza noma ama-moles angaba umdlavuza. Ngesikhathi usehhovisi likadokotela, hlola isikhumba sakho okungenani kanye ngenyanga . Uma ubona noma yimaphi amabala noma amaqhubu amasha, bona udokotela wesikhumba ngokushesha.

• Ukunakekelwa kwezifo zengqondo: Abantu abane-(XP) kufanele babonane nodokotela wezinzwa.Kufanele uhlangane nabo njalo ukuze uhlole ukusabela kwabo, ukuzwa, njll. Uma udokotela ebona noma yiziphi izinguquko kule misebenzi, uzoncoma ukwelashwa ukulawula noma ukunciphisa ijubane lokuwohloka kwesimo.

Khumbula, konke lokhu kwenzelwa ukuzivikela. Uma ulandela lezi zinto kahle, ungaphila impilo ephumelelayo ngisho noma une-(XP).

Ungathini ngokuphila komuntu one-(XP)?

Isikhathi sokuphila somuntu one-Xeroderma Pigmentosum singahlukahluka kuye ngomuntu. Ezimweni eziningi, umdlavuza wesikhumba ungatholakala usemncane kakhulu, okunganciphisa isikhathi sokuphila. Kodwa-ke, ukuthatha izinyathelo zokuvimbela ukulimala kwesikhumba okuvela elangeni kusukela esemncane kungandisa amathuba akho okuphila impilo ende . Ngakho-ke, kubaluleke kakhulu ukulandela izinyathelo zokuphepha ezishiwo ngenhla.

Imibuzo okufanele uyibuze udokotela wakho

Uma wena noma ingane yakho ine-Xeroderma Pigmentosum, noma uma usola ukuthi unayo, ungabuza udokotela wakho le mibuzo:

• Yini engingayenza ukuze nginciphise ingozi yami yomdlavuza wesikhumba?
• Hlobo luni lokuhlolwa komdlavuza okufanele kwenziwe?
• Yiziphi izimpawu zokuqala zomdlavuza wesikhumba?
• Lokhu kutholakala kwesifo kuzowuthinta kanjani wonke umndeni wami?
• Ingabe kufanele ngicabangele ukuhlolwa kwezakhi zofuzo?
• Angakanani amathuba okuba ngibe nomunye umntwana one-(Xeroderma Pigmentosum)?

Okokugcina, izinto okufanele uzikhumbule

Kulungile, ngakho-ke lesi sifo esikhuluma ngaso (i-Xeroderma Pigmentosum - XP) siyisifo esingavamile, esibangelwa izakhi zofuzo. Isici esiyinhloko salokhu ukuzwela okukhulu emisebeni (ye-UV). Abantu abaningi babhekana nezinkinga zokukhula kwamehlo nezinzwa. Uma une-(XP), kufanele ugweme ukukhanya kwelanga okuningi ngangokunokwenzeka, okungukuthi, imisebe (ye-UV) . Ukuvikela isikhumba sakho elangeni nokuthola ukuhlolwa njalo komdlavuza wesikhumba kuyithuba lakho elihle lokuhlala uphilile.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Uma unemibuzo, ungangabazi ukubuza udokotela wakho. Bazokusiza.

I- Xeroderma Pigmentosum, i-XP, izifo zesikhumba, izifo zofuzo, ukuzwela kwelanga, umdlavuza wesikhumba, imisebe ye-UV