Xeroderma pigmentosum

IXeroderma pigmentosum (XP) yimeko enqabileyo edlulayo kwiintsapho. I-XP ibangela ulusu kunye nezicubu ezigqume iliso ukuba zibuthathaka kakhulu kukukhanya kwe-ultraviolet (UV). Abanye abantu bakwaphucula iingxaki zenkqubo yeemvakalelo.

I-XP sisifo esivela kwilifa esizimeleyo. Oku kuthetha ukuba kufuneka ube neekopi ezi-2 zohlobo olungaqhelekanga ukuze isifo okanye uphawu lukhule. Esi sifo sizuzwe njengelifa kumama notata wakho ngaxeshanye. Uhlobo olungaqhelekanga lwanqabile, ngenxa yoko amathuba okuba bobabini abazali abanofuzo anqabile. Ngesi sizathu, akunakulindeleka ukuba umntu onale meko ayidlulisele kwisizukulwana esilandelayo, nangona kunokwenzeka.

Ukukhanya kwe-UV, njengokukhanya kwelanga, konakalisa izinto zemvelo (i-DNA) kwiiseli zolusu. Ngokwesiqhelo, umzimba uyalungisa lo monakalo. Kodwa kubantu abane-XP, umzimba awulungisi umonakalo. Ngenxa yoko, ulusu luye lucekeceke kakhulu kwaye amabala ombala owahlukileyo (splotchy pigmentation) avele.

Iimpawu zihlala zivela xa umntwana eneminyaka emibini ubudala.

Iimpawu zolusu zibandakanya:

• Ukutshiswa lilanga okungapholiyo emva nje kokubethwa lilanga
• Ukuqhaqhazela emva nje kancinci kwelanga
• Imithambo yegazi efana nesigcawu phantsi kolusu
• Iipatches zesikhumba esimdaka esiba mandundu ngakumbi, esifana nokuguga kakhulu
• Ukuqhekeka kolusu
• Ukunyuka kwesikhumba
• Ukukhupha umphezulu wolusu oluhlaza
• Ukungakhululeki xa usekukhanyeni okukhanyayo (photophobia)
• Umhlaza wolusu esemncinci kakhulu (kubandakanya i-melanoma, i-basal cell carcinoma, i-squamous cell carcinoma)

Iimpawu zamehlo zibandakanya:

• Iliso elomileyo
• Ilifu le-cornea
• Izilonda ze-cornea
• Ukudumba okanye ukudumba kweenkophe
• Umhlaza weenkophe, i-cornea okanye i-sclera

Iimpawu zenkqubo yemithambo-luvo, ethi ikhule kwabanye abantwana, ibandakanya:

• Ukukhubazeka kwengqondo
• Ukukhula okulibazisekileyo
• Ukuphulukana nokuva
• Ubuthathaka bemisipha yemilenze kunye neengalo

Umboneleli wezempilo uya kwenza uvavanyo lomzimba, ahlawule ikakhulu ulusu namehlo. Umboneleli uya kubuza malunga nembali yosapho ye-XP.

Uvavanyo olunokwenziwa lunokubandakanya:

• Ulusu lwe-biopsy apho iiseli zolusu zifundwa elebhu
• Ukuvavanywa kwe-DNA yengxaki yohlobo

Olu vavanyo lulandelayo lunokunceda ukufumanisa imeko yomntwana ngaphambi kokuzalwa:

• Amniocentesis
• Isampulu entle yeChorionic
• Inkcubeko yeeseli ze-amniotic

Abantu abane-XP bafuna ukukhuselwa ngokupheleleyo elangeni. Nokukhanya okuza ngeefestile okanye kwiibhalbhu ezibengezelayo kunokuba yingozi.

Xa uphume elangeni, iimpahla zokuzikhusela kufuneka zinxitywe.

Ukukhusela ulusu namehlo elangeni:

• Sebenzisa i-sunscreen nge-SPF ephezulu onokuyifumana.
• Nxiba iihempe ezinemikhono emide neebhulukhwe ezinde.
• Nxiba izibuko zelanga ezithintela imitha yeUVA kunye neUVB. Fundisa umntwana wakho ukuba ahlale enxiba iiglasi zelanga xa ephandle.

Ukuthintela umhlaza wolusu, umboneleli unokuyalela amayeza, afana nokhilimu we-retinoid, ukuba awenze ulusu.

Ukuba umhlaza wolusu uyavela, kuya kwenziwa utyando okanye ezinye iindlela zokususa umhlaza.

Ezi zixhobo zinokukunceda wazi ngakumbi nge-XP:

• Isalathiso seKhaya le-NIH yemfuzo- ghr.nlm.nih.gov/condition/xeroderma-pigmentosum
• Umbutho weXeroderma Pigmentosum- www.xps.org
• XP Iqela leNkxaso yoSapho - xpfamilysupport.org

Ngaphezulu kwesiqingatha sabantu abakule meko babulawa ngumhlaza wolusu ebudaleni.

Biza ixesha lokubonana nomboneleli ukuba wena okanye umntwana wakho uneempawu ze-XP.

Iingcali zincoma ukucebisa ngemfuza kubantu abanembali yosapho ye-XP abanqwenela ukuba nabantwana.

• Chromosomes kunye neDNA

IBender NR, Chiu YE. Ubume befoto. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 675.

IPatterson JW. Ukuphazamiseka kokuvuthwa kwe-epidermal kunye ne-keratinization. Ku: Patterson JW, ed. Weedon's Ulusu lwezifo. Ngomhla we-4. IPhiladelphia, PA: Elsevier Churchill Livingstone; 2016: isahluko 9.