I-Xeroderma pigmentosum

IXeroderma pigmentosum (XP) yisimo esingajwayelekile esidluliswa emindenini. I-XP ibangela ukuthi isikhumba nezicubu ezivale iso zizwele kakhulu ekukhanyeni kwe-ultraviolet (UV). Abanye abantu baphinde babe nezinkinga zesistimu yezinzwa.

I-XP yisifo esizuzwe njengefa se-autosomal. Lokhu kusho ukuthi kufanele ube namakhophi ama-2 wesakhi esingajwayelekile ukuze lesi sifo noma isici sikhule. Lesi sifo sizuzwa ngonyoko nobaba wakho ngasikhathi sinye. Uhlobo olungajwayelekile aluvamile, ngakho-ke amathuba okuba bobabili abazali abanofuzo aqabuke kakhulu. Ngalesi sizathu, akunakwenzeka ngomuntu onalesi simo ukuthi ayidlulisele esizukulwaneni esilandelayo, yize kungenzeka.

Ukukhanya kwe-UV, njengokukhanya kwelanga, kulimaza izinto zofuzo (i-DNA) ezisemangqamuzaneni esikhumba. Imvamisa, umzimba ulungisa lo monakalo. Kepha kubantu abane-XP, umzimba awulungisi umonakalo. Ngenxa yalokho, isikhumba siba mncane kakhulu bese kuvela amabala ahlukahlukene (i-splotchy pigmentation).

Izimpawu zivame ukuvela lapho ingane ineminyaka emibili ubudala.

Izimpawu zesikhumba zifaka:

• Ukushiswa yilanga okungapholi ngemuva nje kokushiswa yilanga
• Ukushayiza ngamandla ngemuva kokuchayeka nje kancane elangeni
• Imithambo yegazi efana nesicabucabu ngaphansi kwesikhumba
• Amachashazi esikhumba esivele sashintsha ukuba sibi kakhulu, afana nokuguga okunzima
• Ukuqhekeka kwesikhumba
• Ukukala kwesikhumba
• Kuthambisa indawo yesikhumba eluhlaza
• Ukungakhululeki lapho usekukhanyeni okukhanyayo (photophobia)
• Umdlavuza wesikhumba usemncane kakhulu (kufaka phakathi i-melanoma, i-basal cell carcinoma, i-squamous cell carcinoma)

Izimpawu zeso zifaka:

• Iso elomile
• Kusibekele i-cornea
• Izilonda ze-cornea
• Ukuvuvukala noma ukuvuvukala kwamajwabu amehlo
• Umdlavuza wamajwabu amehlo, i-cornea noma i-sclera

Izimpawu zesistimu yezinzwa (i-neurologic), ezikhula kwezinye izingane, zifaka:

• Ukukhubazeka kwengqondo
• Ukukhula okubambezelekile
• Ukulahlekelwa ukuzwa
• Ubuthakathaka bemisipha yemilenze nezingalo

Umhlinzeki wezokunakekelwa kwempilo uzokwenza isivivinyo somzimba, anake isikhumba namehlo ngokukhethekile. Umhlinzeki uzobuza futhi ngomlando womndeni we-XP.

Ukuhlolwa okungenziwa kufaka phakathi:

• I-biopsy yesikhumba lapho kufundwa khona amangqamuzana esikhumba elabhorethri
• Ukuhlolelwa i-DNA kofuzo oluyinkinga

Ukuhlolwa okulandelayo kungasiza ukuxilonga isimo enganeni ngaphambi kokuzalwa:

• I-Amniocentesis
• Isampuli se-chorionic villous
• Isiko lamaseli we-amniotic

Abantu abane-XP badinga ukuvikelwa okuphelele ekukhanyeni kwelanga. Ngisho nokukhanya okuza ngamawindi noma kumafluorescent kungaba yingozi.

Uma uphume elangeni, kufanele kugqokwe izingubo zokuzivikela.

Ukuvikela isikhumba namehlo ekukhanyeni kwelanga:

• Sebenzisa i-sunscreen nge-SPF ephezulu ongayithola.
• Gqoka amahembe enemikhono emide namabhulukwe amade.
• Gqoka izibuko zelanga ezivimba imisebe ye-UVA ne-UVB. Fundisa ingane yakho ukuthi ihlale igqoka izibuko zelanga lapho ingaphandle.

Ukuvikela umdlavuza wesikhumba, umhlinzeki angahle anikeze imishanguzo, njengokhilimu we-retinoid, ukuthi isetshenziswe esikhunjeni.

Uma umdlavuza wesikhumba uvela, kuzohlinzwa noma kwenziwe ezinye izindlela ukususa umdlavuza.

Lezi zinsizakusebenza zingakusiza wazi okuningi nge-XP:

• Isethenjwa Sasekhaya se-NIH - ghr.nlm.nih.gov/condition/xeroderma-pigmentosum
• Umphakathi weXeroderma Pigmentosum - www.xps.org
• I-XP Family Support Group - xpfamilysupport.org

Abantu abangaphezu kwengxenye eyodwa yalesi sifo babulawa umdlavuza wesikhumba besebancane.

Shayela i-aphoyintimenti nomhlinzeki uma wena noma ingane yakho unezimpawu ze-XP.

Ochwepheshe batusa ukwelulekwa ngezakhi zofuzo kubantu abanomlando womndeni we-XP abafisa ukuba nezingane.

• Ama-Chromosomes ne-DNA

IBender NR, Chiu YE. Ukuzwela kwe-photosensitivity. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 675.

IPatterson JW. Ukuphazamiseka kokuvuthwa kwe-epidermal kanye ne-keratinization. Ku: Patterson JW, ed. I-Weedon's Skin Pathology. Umhla wesi-4. IPhiladelphia, PA: Elsevier Churchill Livingstone; 2016: isahluko 9.