Njengoba zihlushwa isifo esiyivelakancane esitholakala ngofuzo esaziwa ngokuthi i-xeroderma pidementosum (XP), izingane zenyanga zihlushwa ukuzwela ngokweqile emisebeni ye-ultraviolet, ezivimbela ukuba zichayeke elangeni. Uma kungabikho ukuvikeleka okuphelele, baphathwa umdlavuza wesikhumba kanye nokulimala kwamehlo, ngezinye izikhathi okuhambisana nokuphazamiseka kwezinzwa. Abaphathi benze inqubekelaphambili enkulu kodwa ukubikezelwa kwesifo kusesekubi futhi lesi sifo kusenzima ukuhlala naso nsuku zonke.

Incazelo

I-Xeroderma pigmentosum (XP) isifo sofuzo esingavamile esibonakala ngokuzwela okwedlulele emisebeni ye-ultraviolet (UV) etholakala ekukhanyeni kwelanga kanye neminye imithombo yokukhanya yokwenziwa.

Izingane ezithintekile ziba nokulimala kwesikhumba neso ngokuchayeka kancane elangeni, kanti umdlavuza wesikhumba ungenzeka ezinganeni ezincane kakhulu. Ezinye izinhlobo zesifo zihambisana nokuphazamiseka kwezinzwa.

Ngaphandle kokuvikelwa elangeni okugcwele endaweni, isikhathi sokuphila singaphansi kweminyaka engama-20. Ukuphoqeleka ukuphuma ebusuku kuphela ukugwema ukuchayeka elangeni, iziguli ezincane ngezinye izikhathi zibizwa ngokuthi "abantwana benyanga".

Izimbangela

Imisebe ye-UV (i-UVA ne-UVB) iyimisebe engabonakali yobude begagasi elifushane futhi ingena kakhulu.

Kubantu, ukuchayeka ngokusesilinganisweni emisebeni ye-UV ekhishwa ilanga kuvumela ukwakheka kukavithamini D. Ngakolunye uhlangothi, ukuchayeka ngokweqile kuyingozi ngoba kubangela ukusha kwesikhashana kwesikhumba namehlo futhi, ngokuhamba kwesikhathi, kubangela isikhumba ngaphambi kwesikhathi. ukuguga kanye nomdlavuza wesikhumba.

Lo monakalo ubangelwa ukukhiqizwa kwama-radicals mahhala, ama-molecule asebenza kakhulu ashintsha i-DNA yamaseli. Ngokuvamile, i-DNA yokulungisa amangqamuzana ilungisa umonakalo omkhulu we-DNA. Ukuqoqwa kwawo, okuholela ekuguqulweni kwamangqamuzana abe amangqamuzana anomdlavuza, kuyabambezeleka.

Kodwa Ezinganeni Zenyanga, uhlelo lokulungisa i-DNA alusebenzi kahle ngoba izakhi zofuzo ezilulawulayo zishintshwa ukuguqulwa kofuzo.

Ngokunembe kakhudlwana, kube nokwenzeka ukuhlonza ukuguqulwa kwezakhi zofuzo ezithinta izakhi zofuzo ezingu-8 ezihlukene ezikwazi ukubangela izinhlobo eziyisikhombisa zalokho okubizwa ngokuthi “i-XP yakudala” (XPA, XPB, njll. XPG) okwenzeka ngezindlela ezifanayo, kanye nohlobo olubizwa ngokuthi “i-XP variant” . , elihambisana nesifo esinciphile esinezibonakaliso kamuva.

Ukuze lesi sifo sivezwe, kuyadingeka ukuthi uzuze ikhophi yofuzo oluguquliwe kunina kanye nelinye elivela kuyise (ukudluliselwa kumodi "ye-autosomal recessive"). Ngakho-ke abazali bangabathwali abanempilo, ngayinye enekhophi eyodwa yofuzo oluguquliwe.

kwesifo

Ukuxilongwa kungenziwa ebuntwaneni, cishe eminyakeni engu-1 kuya kwemi-2, ngokubonakala kwesikhumba sokuqala nezimpawu zamehlo.

Ukuqinisekisa lokhu, kwenziwa i-biopsy, ethatha amaseli abizwa ngokuthi ama-fibroblasts atholakala ku-dermis. Ukuhlolwa kwamaselula kungalinganisa izinga lokulungiswa kwe-DNA.

Abantu abathintekayo

E-Europe nase-United States, umuntu oyedwa kuya kwabangu-1 kwabayi-4 abantu abane-XP. EJapane, emazweni aseMaghreb naseMpumalanga Ephakathi, ingane eyodwa kweziyi-1 iyisisulu salesi sifo.

Ngo-Okthoba 2017, inhlangano ethi "Izingane Zenyanga" ikhombe amacala angama-91 eFrance. 

Lesi sifo sibangela izilonda zesikhumba nezamehlo eziwohloka kusenesikhathi, okuvama ukuphindaphinda izikhathi ezingaba ngu-4000 ngaphezu kwabantu abaningi.

Izilonda zesikhumba

• Ububomvu (i-erythema): Ukuzwela kwe-UV kubangela "ukushiswa yilanga" okukhulu ngemva kokuchayeka kancane kusukela ezinyangeni zokuqala zokuphila. Lokhu kusha kuphola kahle futhi kuhlala amasonto ambalwa.
• I-hyperpigmentation: “Amafreckles” avela ebusweni kanti izingxenye zomzimba ezivelile zigcina sezimbozwe amachashaza ansundu angajwayelekile.
• Umdlavuza wesikhumba: Izilonda zangaphambi komdlavuza (i-solar keratoses) ezinokuvela kwamachashaza amancane abomvu namaholo avele kuqala. Umdlavuza uvame ukukhula ngaphambi kweminyaka eyi-10, futhi ungavela eminyakeni emi-2. Lokhu kungase kube i-carcinomas yendawo noma i-melanoma, eyingozi kakhulu ngenxa yokuthambekela kokusabalala (ama-metastases).

Ukulimala kwamehlo

Ezinye izingane zihlushwa i-photophobia futhi azikubekezeleli kahle ukukhanya. Izimo ezingavamile ze-cornea kanye ne-conjunctiva (conjunctivitis) zikhula kusukela eminyakeni engu-4 futhi umdlavuza wamehlo ungase uvele.

Ukuphazamiseka kwemizwa

Ukuphazamiseka kwezinzwa noma ukungahambi kahle kokuthuthukiswa kwengqondo (ukungezwa, izinkinga zokuxhumanisa izimoto, njll.) kungase kuvele ezinhlotsheni ezithile zesifo (cishe i-20% yeziguli). Abekho efomini le-XPC, elivame kakhulu eFrance.

Uma kungekho ukwelashwa okwelaphayo, ukuphatha kusekelwe ekuvimbeleni, ekuhlonzweni nasekulashweni kwezilonda zesikhumba nezamehlo. Ukuqapha okuvamile kakhulu (izikhathi eziningana ngonyaka) udokotela wesikhumba kanye ne-ophthalmologist kuyadingeka. Noma yiziphi izinkinga zemizwa nokuzwa kufanele zihlolwe.

Ukuvimbela konke ukuchayeka kwe-UV

Isidingo sokugwema ukuchayeka kwi-UV siguqula impilo yomndeni ibe phansi. Ukuhamba kuncishisiwe futhi imisebenzi yenziwa ebusuku. Izingane zenyanga manje zemukelwa esikoleni, kodwa ngokuvamile kunzima ukusungula inhlangano.

Izinyathelo zokuvikela zihlala zinemikhawulo kakhulu futhi zibiza:

• ukusetshenziswa okuphindaphindiwe kwe-sunscreen evikela kakhulu,
• ukugqoka izinto zokuzivikela: isigqoko, imaski noma izibuko ze-UV, amagilavu ​​nezingubo ezikhethekile,
• okokusebenza kwezindawo ezijwayele ukuvama kuzo (ekhaya, esikoleni, emotweni, njll.) ezinamafasitela nezibani ezilwa nama-UV (qaphela izibani ze-neon!). 

Ukwelashwa kwezimila zesikhumba

Ukususwa kokuhlinzwa kwamathumba ngaphansi kwe-anesthesia yendawo ngokuvamile kukhethwa. Ngezinye izikhathi i-graft yesikhumba ethathwe esigulini ngokwayo yenziwa ukukhuthaza ukuphulukiswa.

Ezinye izindlela zokwelapha umdlavuza (i-chemotherapy kanye ne-radiotherapy) ezinye izindlela lapho isimila sisebenza kanzima.

Ezinye izindlela zokwelapha

• Ama-retinoids omlomo angasiza ekuvimbeleni izimila zesikhumba, kodwa ngokuvamile azibekezelelwa kahle.
• Izilonda zangaphambi komdlavuza zelashwa ngokufaka ukhilimu osuselwe ku-5-fluorouracil (i-molecule elwa nomdlavuza) noma nge-cryotherapy (ukushiswa okubandayo).
• Ukwengezwa kwe-Vitamin D kuyadingeka ukuze kunxeshezelwe ukushiyeka okuvela ngenxa yokuntuleka kokuchayeka elangeni.

Ukunakekelwa kwengqondo

Umuzwa wokungabandakanywa emphakathini, ukuvikeleka ngokweqile kwabazali kanye nemiphumela yobuhle bezilonda zesikhumba kanye nokuhlinzwa akulula ukuphila nakho. Ngaphezu kwalokho, ukubikezela okubalulekile kusalokhu kungaqinisekile ngisho noma kubonakala kungcono kakhulu kusukela ekusetshenzisweni kwakamuva kwezivumelwano ezintsha zokuvikela ngokuphelele ku-UV. Ukunakekelwa kwengqondo kungasiza isiguli nomndeni waso ukuba babhekane nalesi sifo.

Ukucinga

Ukutholakala kwezakhi zofuzo ezihilelekile kuye kwavula izindlela ezintsha zokwelapha. Ukwelashwa ngofuzo kanye nokwelashwa kwendawo ukulungisa i-DNA kungaba izixazululo zesikhathi esizayo.

Emindenini lapho izingane zenyanga zizalwe khona, kunconywa ukwelulekwa ngofuzo. Izokuvumela ukuthi uxoxe ngezingozi ezihlobene nokuzalwa kabusha.

Ukuxilongwa kwangaphambi kokubeletha kungenzeka uma ukuguqulwa okuhilelekile kukhonjiwe. Uma umbhangqwana ufisa kanjalo, ukunqanyulwa kwezokwelapha kokukhulelwa kungenzeka.