Xeroderma pigmentosum

Xeroderma pigmentosum (XP) ndichinthu chosowa kudzera m'mabanja. XP imapangitsa khungu ndi minofu yophimba diso kukhala yofunika kwambiri ku kuwala kwa ultraviolet (UV). Anthu ena amakhalanso ndi mavuto amanjenje.

XP ndi matenda obadwa nawo otengera Autosomal. Izi zikutanthauza kuti muyenera kukhala ndi mitundu iwiri ya jini yachilendo kuti matenda kapena khalidweli likule. Vutoli limachokera kwa amayi ndi abambo anu nthawi imodzi. Jini losazolowereka ndilosowa, chifukwa chake mwayi wa makolo onse okhala ndi jini ndi wosowa kwambiri. Pachifukwa ichi, sizokayikitsa kuti munthu amene ali ndi vutoli angazipititsire m'badwo wotsatira, ngakhale ndizotheka.

Kuwala kwa UV, monga kuchokera ku dzuwa, kumawononga chibadwa (DNA) m'maselo akhungu. Nthawi zambiri, thupi limakonza zowonongekazi. Koma mwa anthu omwe ali ndi XP, thupi silikonza zowonongeka. Zotsatira zake, khungu limayamba kuwonda kwambiri ndipo pamatuluka mitundu yamawangamawanga (splotchy pigmentation).

Zizindikiro nthawi zambiri zimawoneka nthawi yomwe mwana amakhala ndi zaka 2.

Zizindikiro za khungu ndi izi:

• Kupsa ndi dzuwa komwe sikumachira ukangotha ​​padzuwa pang'ono
• Kutentha pambuyo poti padzuwa pang'ono
• Mitsempha yofanana ndi kangaude pansi pa khungu
• Magulu akhungu lofiirira lomwe limakulirakulirabe, ngati kukalamba kwambiri
• Kupindika khungu
• Kukula kwa khungu
• Kutulutsa khungu lobiriwira
• Kusasangalala mukakhala mukuwala kwambiri (photophobia)
• Khansara ya khungu ali wamng'ono kwambiri (kuphatikizapo khansa ya pakhungu, basal cell carcinoma, squamous cell carcinoma)

Zizindikiro za diso ndizo:

• Diso lowuma
• Mitambo ya cornea
• Zilonda za cornea
• Kutupa kapena kutupa kwa zikope
• Khansa ya zikope, cornea kapena sclera

Zizindikiro zamanjenje (neurologic), zomwe zimayamba mwa ana ena, zimaphatikizapo:

• Kulemala kwamaluso
• Kukula kochedwa
• Kutaya kumva
• Minofu kufooka kwa miyendo ndi manja

Wothandizira zaumoyo amayeza thupi, kusamalira khungu ndi maso. Wothandizirayo afunsanso za mbiri ya banja la XP.

Mayeso omwe angachitike ndi awa:

• Khungu lachikopa momwe maselo a khungu amaphunzirira mu labotale
• Kuyesera kwa DNA kwa jini lamavuto

Mayesero otsatirawa angathandize kuzindikira momwe mwana alili asanabadwe:

• Amniocentesis
• Zitsanzo zabwino kwambiri za Chorionic
• Chikhalidwe cha maselo amniotic

Anthu omwe ali ndi XP amafunikira chitetezo chathunthu ku dzuwa. Ngakhale kuwala kochokera m'mazenera kapena mababu a fulorosenti kumatha kukhala koopsa.

Mukakhala padzuwa, zovala zoteteza ziyenera kuvala.

Kuteteza khungu ndi maso ku dzuwa:

• Gwiritsani ntchito zoteteza ku dzuwa ndi SPF yapamwamba kwambiri yomwe mungapeze.
• Valani malaya amanja ndi thalauza lalitali.
• Valani magalasi omwe amaletsa kuwala kwa UVA ndi UVB. Phunzitsani mwana wanu kuti azivala magalasi akunja nthawi zonse panja.

Pofuna kupewa khansa yapakhungu, woperekayo amatha kukupatsani mankhwala, monga kirimu wa retinoid, woti azigwiritsa ntchito pakhungu.

Khansa yapakhungu ikayamba, opareshoni kapena njira zina zidzachitika kuti khansayo ichitike.

Izi zitha kukuthandizani kudziwa zambiri za XP:

• Buku Lofotokozera la NIH Genetics - ghr.nlm.nih.gov/condition/xeroderma-pigmentosum
• Xeroderma Pigmentosum Society - www.xps.org
• XP Family Support Group - xpfamilysupport.org

Oposa theka la anthu omwe ali ndi vutoli amamwalira ndi khansa yapakhungu atakula.

Itanani nthawi yoti mudzakumane ndi wothandizirayo ngati inu kapena mwana wanu muli ndi zizindikiro za XP.

Akatswiri amalimbikitsa upangiri wamtundu wamtundu wa anthu omwe ali ndi mbiri yabanja ya XP omwe akufuna kukhala ndi ana.

• Chromosomes ndi DNA

Bender NR, Chiu YE. Kusintha kwa dzuwa. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 675.

Patterson JW. Zovuta zakukula kwa khungu ndi keratinization. Mu: Patterson JW, mkonzi. Matenda a Khungu la Weedon. Wolemba 4. Philadelphia, PA: Elsevier Churchill Livingstone; 2016: chap 9.