Izifo ezizuzwayo zibangelwa ukukhanya kwelanga elide
I-Xeroderma pigmentosum (XP) isifo esizuze ilifa elibangela ukukhanya okukhulu kwi-UV ultraviolet (UV). Ukukhanya kwe-UV kubonakalisa i-genetic material ( DNA ) kwiiseli kwaye kuyaphazamisa umsebenzi oqhelekileyo weseli. Ngokuqhelekileyo, i-DNA eyonakalisiweyo yalungiswa ngumzimba, kodwa iinkqubo zokulungisa i-DNA zabantu abane-XP azisebenzi kakuhle. Kwi-XP, i-DNA eyonakalisiweyo yakha kwaye iyingozi kumaseli omzimba, ngokukodwa kwesikhumba nangamehlo.
I-Xeroderma pigmentosum ilifa kwi- autosomal pattern . Ichaphazela amadoda namabhinqa kuzo zonke iintlanga. I-XP iqikelelwa ukuba yenzeke kwi-1 kubantu abayi-1 000 000 e-United States. Kwezinye iindawo zehlabathi, ezifana neNorth Africa (iTunisia, iAlgeria, iMorocco, iLibya, iYiputa), eMbindi Mpuma (i-Turkey, i-Israel, iSiriya) kunye neJapan, i-XP idla ngokuphindaphindiweyo.
Iimpawu Zesikhumba
Abantu abane-xeroderma pigmentosum bafumana iimpawu zesikhumba kunye neenguqu ukusuka ekubeni elangeni. Ezi ziquka:
- ukushisa kwelanga okungaqhelekanga okungabandakanywa ukukhahlela emva kokuphela kwelanga nje ixesha elifutshane
- Ukushona kwelanga kuhlala ixesha elide kunokulindelekileyo, ngezinye iiveki ezimbalwa
- ukuphuhliswa kweeninzi zeentlobo ezincinane
- isikhumba esomeleleyo (xerosis)
- Ukukhula kancinci kwesikhumba (i-keratoses yelanga)
- kwiindawo ezingaqhelekanga zobumnyama
- uphuhliso lwaluphi na lweentlobo ezintathu eziqhelekileyo zomhlaza wesikhumba : i-basal cell carcinoma, i-squamous cell carcinoma, okanye i-melanoma
Igama elithi "xeroderma pigmentosum" lithetha "ulusu olomileyo olumnyama." Ukubonakalisa ilanga phezu kwexesha kubangela ukuba ulusu lube mnyama, lube lukhuni kunye nokutshatyalaliswa. Kwabantwana, ulusu lubukeka ngathi ulusu lwabalimi kunye nabanqwelisi abasemzini iminyaka emininzi.
Abantu abane-xeroderma pigmentosum abangaphantsi kweminyaka engama-20 banamaxesha angaphezu kwe-1 000 umngcipheko wokwakha umdlavuza wesikhumba kunabantu abangenawo wesifo.
Umhlaza wokuqala wesikhumba ungakhula ngaphambi kokuba umntwana oneminyaka eyi-10 ubudala, kunye neengcambu ezininzi zesikhumba zingakhula kwixesha elizayo. Kwi-XP, umdlavuza wesikhumba udla ngokuphindaphindiweyo ebusweni, emlonyeni, kwamehlo, nakwintonga yolwimi.
Iimpawu Zamehlo
Abantu abane-xeroderma pigmentosum banokubona iimpawu zamehlo kunye nezinguqu ukusuka ekubeni elangeni. Ezi ziquka:
- Amehlo abuhlungu ukukhathazeka ilanga
- Amehlo athukutheka lula kwaye abe negazi
- i-ectropion, ukujika kwinqanaba lejwabu leso
- ukuvuvukala (keratitis) ye-cornea, inxalenye ecacileyo ephambi kweso elivumela ukukhanya
- ukukhanya kwe-cornea
- ubumnyama besikhumba seenkophe; maxa wambi i-eyelashes iphuma
Iimpawu zeNervous Symptoms
Amaphesenti angama-20 ukuya kuma-30 abantu abanesifo se-xeroderma pigmentosum banesifo seempawu zamanzi ezifana ne:
- ukulahlekelwa kwindlebe okuba nzima ngakumbi ngexesha
- ukulungelelanisa
- imisipha yomzimba
- intloko encinane kune-ejwayelekile (ebizwa ngokuba yi-microcephaly)
- ukukhubazeka kwengqondo okwenzeka ngakumbi ngexesha
- ukuxhamla
Iimpawu zesifo seNervous ziba khona kusebuntwaneni, okanye zingabonakali kude kube sebuncinaneni okanye ebusheni. Abanye abantu abane-XP baya kuvelisa kuphela iimpawu zesifo se-nervous mildness ekuqaleni, kodwa iimpawu ziba zimbi nakwixesha.
Ukuxilongwa
Ukuxilongwa kwe-xeroderma pigmentosum kusekelwe kwesikhumba, iso, kunye neempawu ze-nervous system (ukuba zikhoyo). Uvavanyo oluthile olwenziwe kwigazi okanye isampuli yesikhumba lunokukhangela i-DNA yokulungisa i-defen present in XP. Uvavanyo lunokwenziwa ukulawula ezinye izifo ezinokubangela iimpawu ezifanayo, ezifana neCockayne syndrome, i-trichothiodystrophy, i-Rothmund-Thomson syndrome, okanye i-Hartnup.
Unyango
Akukho nonyango ye-xeroderma pigmentosum, ngoko unyango lujolise kuyo nayiphi na ingxaki ekhoyo kunye nokuthintela iingxaki zexesha elizayo ekuhlaleni. Nayiphi na i-cancer okanye izilonda ezinokusola kufuneka ziphathwe okanye zisuswe ngumcebisi wesikhumba ( dermatologist ).
Ingcali yeliso (i- ophthalmologist ) inokuphatha nayiphi na ingxaki yamehlo eyenzekayo.
Ekubeni kukukhanya kwe-UV okwenza umonakalo, inxalenye enkulu yokuthintela iingxaki ikhusela ulusu kunye namehlo. Ukuba umntu ophethe i-XP kufuneka ahambe ngaphandle kwimihla, kufuneka abekwe iimpahla ezinde, amagqabi ende, iiglavu, umkhonto, izikrini zelanga kunye nezikhuselo zecala kunye ne-sunscreen. Xa ungena ngaphakathi okanye kwimoto, iifestile kufuneka zivaliwe ukuvimba ii-ray zama-UV ezivela elangeni (nangona ukukhanya kwe-UVA kusenokungena ngaphakathi, ngoko umntu kufuneka agqoke ngokupheleleyo). Abantwana abane-XP akufanele badlale ngaphandle emini.
Ezinye iintlobo zokukhanya kwangaphakathi (ezifana nezibane ze-halogen) zinokukhupha ukukhanya kwe-UV. Imithombo yangaphakathi ye-UV ukukhanya ekhaya, kwisikolo okanye kwindawo yokusebenza kufuneka ichongwe kwaye ipheliswe, ukuba kunokwenzeka. Abantu abane-XP banokugqoka i-sunscreen indoors ukukhusela kwimithombo engabonakaliyo yokukhanya kwe-UV.
Ezinye izinto ezibalulekileyo zokuthintela iingxaki zihlolisiso lweekhanda rhoqo, iimviwo zamehlo, kunye nokuvavanywa kwangaphambili kunye nokunyangwa kweengxaki zenkqubo yeentlanzi ezifana nokulahlekelwa kwindlebe.
Imithombo:
"Ukuqonda i-Xeroderma Pigmentosum." Inkcukacha zoLuntu. 2006. iZiko lezonyango, amaZiko eZiko lezeMpilo.
Kraemer, Kenneth. "Xeroderma Pigmentosum." GeneReviews. 22 Apreli 2008. Iimpawu zeGenesis.