Izifo Ezizuzwe Ngezimbangela Kubangela Ukuzwela Kakhulu Kwelanga
I-Xeroderma pigmentosum (i-XP) yisifo esizuzwe njengefa esibangela ukuzwela ngokweqile ekukhanyeni kwe-ultraviolet (UV). Ukukhanya kwe-UV kulimaza izakhi zofuzo ( DNA ) emangqamuzaneni futhi kuphazamisa umsebenzi ovamile weseli. Ngokuvamile, i-DNA eyonakele yalungiswa umzimba, kodwa izinhlelo zokulungisa i-DNA zabantu abane-XP azisebenzi kahle. Ku-XP, i-DNA ewonakele ikhiqiza futhi iba yingozi kumangqamuzana omzimba, ikakhulu esikhumbeni nasweni.
I-Xeroderma pigmentosum izuzwe njengefa lephethini ephindaphindiwe ye-autosomal . Lithinta kokubili amadoda nabesifazane bazo zonke izinhlanga. I-XP kulinganiselwa ukuthi iyenzeka ku-1 ku-1 000,000 abantu e-United States. Kwezinye izindawo zomhlaba, njengeNorth Africa (Tunisia, Algeria, Morocco, Libya, Egypt), eMpumalanga Ephakathi (Turkey, Israel, Syria), naseJapane, i-XP ivele kaningi.
Izimpawu Zezikhumba
Abantu abane-xeroderma pigmentosum bahlangabezana nezibonakaliso zesikhumba kanye nezinguquko ukusuka elangeni. Lokhu kungafaka:
- ukushisa kwelanga okungajwayelekile okungafaka phakathi ukugcoba ngemva kokuphela kwelanga isikhathi esifushane
- Ukushisa kwelanga kuqhubeka isikhathi eside kunokulindelwe, ngezinye izikhathi amasonto ambalwa
- ukuthuthukiswa kwezinqwaba ezincane ezincane
- isikhumba esomile (i-xerosis)
- izikhukhula zesikhumba ezinamaqabunga (i-keratoses yelanga)
- izindawo ezingajwayelekile zomnyama
- ukuthuthukiswa kwanoma yiziphi izinhlobo ezintathu ezivamile zomdlavuza wesikhumba : i-basal cell carcinoma, i-squamous cell carcinoma, noma i-melanoma
Igama elithi "xeroderma pigmentosum" lisho "isikhumba esomile esikhanyayo." Ukuvezwa kwelanga phezu kwesikhashana kubangela ukuthi isikhumba sibe mnyama, somile futhi senze isikhumba. Ngisho nezingane, isikhumba sibukeka njengesikhumba sabalimi nabasolwandle abasesontweni iminyaka eminingi.
Abantu abane-xeroderma pigmentosum abangaphansi kweminyaka engama-20 banamathuba angaphezu kuka-1 000 amathuba okuba nomdlavuza wesikhumba kunabantu abangenalo isifo.
Umdlavuza wokuqala wesikhumba ungathuthuka ngaphambi kokuba ingane ene-XP ineminyaka engu-10 ubudala, futhi ezinye izifo zomdlavuza zesikhumba zingase zithuthuke esikhathini esizayo. Ku-XP, umdlavuza wesikhumba uqala kaningi ebusweni, ezindebeni, emehlweni nasezintweni zolimi.
Izimpawu Zamehlo
Abantu abane-xeroderma pigmentosum nabo babona izibonakaliso zeso kanye nezinguquko kusukela elangeni. Lokhu kungafaka:
- Amehlo abuhlungu ukuzwela ilanga
- amehlo athukuthele kalula futhi abe yigazi
- i-ectropion, ukuphuma emaphethelweni ejwabu leso
- ukuvuvukala (keratitis) ye-cornea, ingxenye ecacile yecala elikhanyayo
- i-cloudiness ye-cornea
- ukubumnyama kwesikhumba samajwabu amehlo; ngezinye izikhathi ama-eyelashes aphuma
Izimpawu zesimiso seNervous
Amaphesenti angaba ngu-20 kuya kwangu-30 abantu abane-xeroderma pigmentosum banesimpawu sezinzwa zesisindo ezifana nalokhu:
- ukulahlekelwa ukuzwa okubi kakhulu ngokuhamba kwesikhathi
- ukusebenzisana kabi
- imisipha ye-spastic
- inhloko encane kune-evamile (ebizwa ngokuthi i-microcephaly)
- ukukhubazeka kwengqondo okubi kakhulu ngokuhamba kwesikhathi
- ukuhlukunyezwa
Izimpawu zesimiso sezinzwa zingase zibe khona ebuntwaneni, noma zingase zingabonakali kuze kube yilapho ingane isencane noma ikhulile. Abanye abantu abane-XP bazokwakhiwa kuphela izimpawu zesimiso se-nerve ekuqaleni, kodwa izimpawu ziba zimbi kakhulu ngokuhamba kwesikhathi.
Ukuxilongwa
Ukuxilongwa kwe-xeroderma pigmentosum kusekelwe esikhumbeni, iso, kanye nezimpawu zesistimu zezinzwa (uma zikhona). Isivivinyo esikhethekile esenziwe ngegazi noma isampula lesikhumba singabheka i-DP yokukhubazeka okwamanje ku-XP. Izivivinyo zingenziwa ukulawula ezinye izifo ezingabangela izimpawu ezifanayo, njengeCockayne syndrome, i-trichothiodystrophy, i-Rothmund-Thomson syndrome, noma i-Hartnup isifo.
Ukwelapha
Ayikho ikhambi le-xeroderma pigmentosum, ngakho-ke ukwelashwa kugxile kunoma yiziphi izinkinga ezikhona futhi kuvimbele izinkinga zesikhathi esizayo ekuthuthukiseni. Noma iyiphi i-khansa noma izilonda ezisolisayo kufanele ziphathwe noma zisuswe ngumchwepheshe wesikhumba ( dermatologist ).
Isazi sezeso ( ophthalmologist ) singaphatha noma yiziphi izinkinga zamehlo ezenzekayo.
Ngenxa yokuthi ukukhanya kwe-UV okudala ukulimala, ingxenye enkulu yokuvimbela izinkinga ivikela isikhumba namehlo. Uma othile ophethe i-XP kufanele ahambe ngaphandle emini, kufanele agqoke imikhono emide, amabhulukwe amade, amagilavu, isichubezi, izibuko zemibukiso enezihlangu ezihlangothini, kanye neskrini selanga. Uma usendlini noma emotweni, amafasitela kufanele avalwe ukuvimbela imisebe ye-UV evela ekukhanyeni kwelanga (nakuba ukukhanya kwe-UVA kusengena ngaphakathi, ngakho-ke umuntu kumelwe agqoke ngokugcwele). Izingane ezine-XP akufanele zidlale ngaphandle emini.
Ezinye izinhlobo zokukhanya zangaphakathi (njengezibani ze-halogen) nazo zingahlinzeka ukukhanya kwe-UV. Imithombo yangaphakathi ye-UV ukukhanya ekhaya, esikoleni, noma endaweni yomsebenzi kufanele ibonakale futhi isuswe, uma kungenzeka. Abantu abane-XP nabo bangagqoka isikrini selanga ngaphakathi ukuze bavikele emithonjeni engaziwa ye-UV ukukhanya.
Ezinye izingxenye ezibalulekile zokuvimbela izinkinga izivivinyo zesikhumba kaningi, ukuhlola iso, nokuhlolwa kokuqala kanye nokwelashwa kwezinkinga zesistimu zezinzwa ezifana nokulahlekelwa kokuzwa.
Imithombo:
"Ukuqonda i-Xeroderma Pigmentosum." Ulwazi Lweziguli Ulwazi. 2006. Isikhungo samaKliniki, amaNational Institutes of Health.
Kraemer, Kenneth. "I-Xeroderma Pigmentosum." GeneReviews. 22 Meyi 2008. I-GeneTests.