Xeroderma pigmentosum

Xeroderma pigmentosum (XP) chinhu chisingawanzoitika chakapfuura nemumhuri. XP inokonzeresa kuti ganda uye munyama unovhara ziso kunyatso kunetseka kune ultraviolet (UV) mwenje. Vamwe vanhu vanoitawo matambudziko ehurongwa hwemitsipa.

XP i autosomal recessive nhaka yekusagadzikana. Izvi zvinoreva kuti iwe unofanirwa kuve nemaviri makopi eisina kujairika geni kuitira kuti chirwere kana hunhu hutange. Dambudziko iri rakagara nhaka kubva kuna mai vako nababa panguva imwe chete. Iyo isina kujairika geni isingawanzo, saka mikana yevabereki vaviri vane iyo jeni ishoma kwazvo. Neichi chikonzero, hazvigoneke kuti mumwe munhu ane mamiriro ekuzvipfuudza kuchizvarwa chinotevera, kunyange zvichikwanisika.

UV mwenje, senge kubva kuzuva, inokuvadza iyo magene (DNA) mumasero eganda. Kazhinji, muviri unogadzirisa kukuvara uku. Asi mune vanhu vane XP, muviri haugadzirise kukuvara. Nekuda kweizvozvo, ganda rinoonda zvakanyanya uye zvigamba zvemavara akasiyana (splotchy pigmentation) anoonekwa.

Zviratidzo zvinowanzoonekwa panguva iyo mwana ane makore maviri ekuberekwa.

Zviratidzo zveganda zvinosanganisira:

• Kupiswa nezuva kusingapore mushure mekungobuda kwezuva zvishoma
• Kufuridzira mushure mechinguva chidiki chezuva kubuda
• Spider-semidziyo yeropa pasi peganda
• Zvimedu zveganda rakatsvukuruka rinowedzera kuipa, kuita sekukwegura kwakanyanya
• Kukanganiswa kweganda
• Kukura kweganda
• Kubuda ganda rakatsvuka pamusoro
• Kusagadzikana kana uri muchiedza chakajeka (photophobia)
• Kenza yeganda pazera diki kwazvo (kusanganisira melanoma, basal cell carcinoma, squamous cell carcinoma)

Zviratidzo zvemaziso zvinosanganisira:

• Ziso rakaoma
• Makore ekona
• Zvironda zvekona
• Kuzvimba kana kuzvimba kwemaziso
• Kenza yemaziso, cornea kana sclera

Nervous system (neurologic) zviratidzo, zvinokura mune vamwe vana, zvinosanganisira:

• Urema hwekuziva
• Kunonoka kukura
• Kurasikirwa kwekunzwa
• Tsvina kushaya simba kwemakumbo nemaoko

Anopa hutano anoita bvunzo dzepanyama, achitarisa zvakanyanya kuganda nemaziso. Iye mupi anozobvunzawo nezve nhoroondo yemhuri yeXP.

Miedzo inogona kuitwa inosanganisira:

• Ganda biopsy mune ayo maseru eganda anodzidziswa murabhoritari
• DNA kuyedza dambudziko gene

Iyi bvunzo inotevera inogona kubatsira kuongorora mamiriro ari mumwana asati azvarwa:

• Amniocentesis
• Chorionic villous sampling
• Tsika yemaseniotic masero

Vanhu vane XP vanoda chengetedzo izere kubva kuzuva. Kunyangwe mwenje unouya nepamawindow kana kubva kumagetsi emagetsi anogona kuva nenjodzi.

Kana kunze kwezuva, zvipfeko zvekudzivirira zvinofanirwa kupfekwa.

Kuchengetedza ganda nemaziso kubva kune kwezuva:

• Shandisa sunscreen ine yepamusoro SPF yaunogona kuwana.
• Pfekai hembe refu-ruoko uye mudhebhe murefu.
• Pfeka magirazi ezuva anovhara UVA uye UVB mwaranzi. Dzidzisa mwana wako kugara achipfeka magirazi ezuva kana ari panze.

Kuchengetedza gomarara reganda, mupi anogona kupa mishonga, senge retinoid kirimu, kuti ishandise paganda.

Kana gomarara reganda rikatanga, kuvhiya kana dzimwe nzira dzichaitwa kubvisa gomarara.

Izvi zviwanikwa zvinogona kukubatsira iwe kuziva zvakawanda nezve XP:

• NIH Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/xeroderma-pigmentosum
• Xeroderma Pigmentosum Society - www.xps.org
• XP Mhuri Inotsigira Boka - xpfamilysupport.org

Vanopfuura hafu yevanhu vane chirwere ichi vanofa nekenza yeganda vachiri vakuru.

Dana kuti usangane nemupi mupi kana iwe kana mwana wako aine zviratidzo zveXP.

Nyanzvi dzinokurudzira kurairwa kwemajini kune vanhu vane nhoroondo yemhuri yeXP vanoshuvira kuve nevana.

• Chromosomes uye DNA

Bender NR, Chiu YE. Photosensitivity. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chap 675.

Patterson JW. Kukanganiswa kwepidermal maturity uye keratinization. Mune: Patterson JW, ed. Weedon's Ganda Pathology. 4th ed. Philadelphia, PA: Elsevier Churchill Livingstone; 2016: chits. 9.