Kuyini i-Dyskeratosis Congenita? Ingabe ingane yakho inalezi zimpawu? Ake sixoxe!

Uke waphawula noma yiziphi izinguquko ezingavamile esikhumbeni sengane yakho, ezinzipho, noma emlonyeni wayo? Ngezinye izikhathi lokhu kungase kubonakale kujwayelekile, kodwa kungase kube nesimo esingavamile sofuzo ngemuva kwazo. Esinye salezo zimo yi- Dyskeratosis Congenita , ngezinye izikhathi esifushaniswa ngokuthi (DC) noma (DKC). Lokhu kungase kuzwakale kuyinkimbinkimbi kancane, kodwa masikugcine kulula futhi kulula ukukuqonda.

Iyini ngempela i-Dyskeratosis Congenita?

Kalula nje, i-dyskeratosis congenita yisimo esingavamile kakhulu sofuzo. Singathinta izingxenye eziningi zomzimba wengane yakho. Ngokuvamile, izimpawu zokuqala zivela esikhumbeni, ezinzipho, nangaphakathi emlonyeni ngaphambi kokuba ingane ibe neminyaka eyi-10 ubudala. Kwabanye abantwana, uphawu lokuqala lwalesi simo lungaba yinto efana nokwehluleka komnkantsha. Lokhu ngezinye izikhathi kungaholela ezinkingeni ezinkulu, njengomdlavuza, ebuntwaneni, ebusheni, noma ebudaleni.

Lesi simo, esibizwa ngokuthi i-dyskeratosis congenita, singeseqembu elikhulu lezinkinga zebhayoloji ye-telomere . Cabanga ngaso njengezimbozo ezincane zepulasitiki ekugcineni kwezintambo zethu zezicathulo. Lezi zitholakala emaphethelweni ama-chromosome ethu - izakhiwo eziqukethe izakhi zofuzo zethu (i-DNA). La ma-telomere avikela izakhi zofuzo zethu. Yizo ezigcina izitho zethu nezicubu emzimbeni wethu zikhula futhi zisebenza kahle. Kodwa enganeni ene-dyskeratosis congenita, la ma-telomere amafushane kunalokho okufanele abe yikho. Yingakho kuvela izinkinga ezahlukahlukene.

Kunezinye izifo eziningana ze-telomere ezifana nalezi:

• I-Hoyeraal Hreidarsson Syndrome (HH)
• I-Revesz syndrome (RS)
• I-Coats plus syndrome

Ziyini izimpawu ze-dyskeratosis congenita?

Abacwaningi baqale bathola izici ezintathu eziyinhloko ezinganeni ezine-"classic dyskeratosis congenita" (i-classic DC):

1. Ukungafani kombala wesikhumba: Isikhumba entanyeni yomntwana, esifubeni esingaphezulu, nasezingalweni singase sibonakale sinjenge-mesh noma njenge-lace. Isikhumba esithintekile singase sibe mhlophe noma sibe mnyama kunombala wesikhumba ojwayelekile womntwana.

2. Ukukhubazeka noma ukulahleka kwezinzipho: Ungase uqaphele imifantu noma imifantu ezinzipho zakho kanye/noma ezinzipho. Zingase ziqhekeke, zikhule kancane, noma zibe zimfushane kunokujwayelekile. Ngezinye izikhathi, izinzipho zakho zingase zibe zimfushane kunokujwayelekile, noma zingase zinyamalale ngokuphelele. Lezi zinguquko zingase zithinte ezinye izinzipho kuphela, kanti ezinye zingase zihlale zijwayelekile.

3. I-Leukoplakia: Amabala amhlophe aqinile angavela olimini lwengane noma ngaphakathi kwezihlathi.

Odokotela babiza lezi zimpawu ezintathu ngokuthi "i-mucocutaneous triad."Igama elithi "Muco" libhekisela olwelwesini lomlomo, kanti elithi "cutaneous" libhekisela esikhumbeni. Kodwa-ke, i-dyskeratosis congenita yisimo esiyinkimbinkimbi kakhulu esithinta ingane ngayinye ngendlela ehlukile kancane.

Isibonelo, ezinye izingane zingase zibe nokwehluleka komongo ngaphambi kokuba kuvele lezi zimpawu ezintathu. Odokotela bangase bathole i-dyskeratosis congenita lapho benza izivivinyo zokuthola imbangela yokwehluleka komongo.

Ezinye izingane zingase zibe nezimpawu eziningi ezahlukene ezibonakala zingahlobene, kodwa kungemva kokuhlolwa kuphela lapho odokotela beqaphela khona ukuthi imbangela yi-dyskeratosis congenita.

Ezinye izimpawu ezingaba khona:

• Izinkinga ezihlobene namathambo: I-Osteoporosis (ukuncipha kwamathambo), ukwaphuka kwamathambo, kanye ne-avascular necrosis yamathambo ezinqeni nasemahlombe.
• Umdlavuza: I-leukemia, umdlavuza wesikhumba, umdlavuza we-squamous cell wekhanda/intamo.
• Izinkinga zokulinganisela nokuxhumana: Ubunzima ngezinto ezifana nokuhamba (ataxia).
• Ukwehla kokukhiqizwa kwama-hormone ocansi (i-hypogonadism).
• Ubuthakathaka besimiso somzimba sokuzivikela (i-immunodeficiency).
• Izinkinga zamazinyo: Ukubola kwamazinyo ngokweqile, amazinyo axegayo.
• Ukubambezeleka kokukhula noma ukukhubazeka.
• Ukuncipha komlomo wesibeletho: Lokhu kungabangela ubunzima bokugwinya, ukuhlanza, kanye nokukhuluphala.
• Ukujuluka ngokweqile.
• Ukulahlekelwa izinwele noma ukuba mpunga ngaphambi kwesikhathi.
• Isifo sesibindi.
• Izifo zamaphaphu.
• Ubude obufushane .
• Ikhanda elincane `(i-microcephaly)` .
• Ukuncishiswa komchamo .
• Amehlo anamanzi kanye nokutheleleka kwamehlo.

Yini ebangela i-dyskeratosis congenita?

I-Dyskeratosis congenita ibangelwa ukushintshashintsha kwezakhi zofuzo . Ikakhulukazi, njengoba ngishilo ekuqaleni, ithinta izakhi zofuzo ezilawula ukusebenza kwama -telomere engane yakho.

Uma ama-telomere engasebenzi kahle, amanye amaseli emzimbeni wengane awakwazi ukusebenza kahle. Lokhu kungaholela ekusweleni kwamangqamuzana egazi, ukungasebenzi kahle kwezitho zomzimba, kanye nezinye izinkinga.

Ingabe lokhu kuyinto evela ezizukulwaneni ngezizukulwane?

Yebo, i-dyskeratosis congenita ingadluliselwa kusuka esizukulwaneni kuya kwesinye. Ingane ingayithola njengefa kumzali oyedwa noma bobabili. Kodwa-ke, kungenzeka futhi ukuthi ingane ibe nayo okokuqala, noma ngabe akekho emndenini oke waba nalesi simo ngaphambili.

Yiziphi izakhi zofuzo ezihilelekile ku-dyskeratosis congenita?

Nazi ezinye zezakhi zofuzo abacwaningi abavame ukuzixhumanisa nezifo ze-dyskeratosis congenita kanye ne-telomere biology:

``DKC1, TERC, TERT, TINF2, ACD, CTC1, DCLRE1B, NHP2, NOP10, NPM1, POT1, RPA1, STN1, TCAB1, PARN, RTEL1.``

Yiziphi izinkinga ezingaba khona ze-dyskeratosis congenita?

Lesi simo singadala izinkinga ezahlukahlukene, ezinye zazo yilezi:

• Ukwehluleka kwethambo lomnkantsha: Lena inkinga evame kakhulu. Ngokuvamile kwenzeka ngaphambi kweminyaka engama-30.
• I-fibrosis yamaphaphu
• I-Myelodysplastic syndrome (MDS) (inkinga ngokukhiqizwa kwamaseli egazi emnkantsheni wethambo)
• I-acute myeloid leukemia (AML) (uhlobo lomdlavuza wegazi)
• Umdlavuza wekhanda nentamo
• Umdlavuza wesikhumba
• I-fibrosis yesibindi

I-dyskeratosis congenita itholakala nini eminyakeni emingaki?

Ngokuvamile, lesi sifo sitholakala ngesikhathi sobuntwana noma sobusha, ngoba yilapho kuvela khona izimpawu zokuqala. Kodwa-ke, abanye abantu bangase bangabonakali izimpawu kuze kube yilapho sebekhulile, futhi bangase bangatholakali nakancane ukuthi banalesi sifo.

Odokotela bakuthola kanjani lesi simo?

Odokotela benza okulandelayo ukuze baxilonge i-dyskeratosis congenita:

• Uzobuzwa ngezimpawu zengane yakho.
• Umlando wezokwelapha wengane nomndeni uyabuyekezwa.
• Ukwenza ukuhlolwa ngokomzimba.
• Kuhlolwa izivivinyo ezikhethekile.

Odokotela bafuna izimpawu ezaziwayo zalesi sifo (njengokushintsha kwesikhumba, ukushintsha kwezinzipho, amabala amhlophe emlonyeni) bese besebenzisa imiphumela yokuhlolwa ukuqinisekisa ukuthi i-dyskeratosis congenita iyimbangela yalezo zimpawu noma cha.

Ukuhlolwa kwe-Dyskeratosis Congenita (DKC)

Udokotela wakho angase acele ukuhlolwa okuningana kwengane yakho. Okunye kuzosiza ngqo ekuxilongweni, kanti okunye kungase kwembule izimpawu ezengeziwe ezingathinta impilo yengane yakho kanye nohlelo lokwelashwa.

Izivivinyo ezimbili eziyinhloko zokuxilonga i-dyskeratosis congenita yilezi:

• I-Flow cytometry: Lokhu kulinganisa ukuthi ama-telomere engane yakho made kangakanani. Imiphumela yokuhlolwa inikeza ubude be-telomere kanye ne-percentile. Le percentile ikhombisa ukuthi ubude be-telomere yengane yakho buqhathaniswa kanjani nobude be-telomere bezinye izingane ezineminyaka yazo.
• Ukuhlolwa kwezakhi zofuzo: Lokhu kuhlola ukuguquka kwezakhi zofuzo okuhlobene ne-dyskeratosis congenita.

Ngokuvamile, kuthathwa isampula yegazi ukuze kuhlolwe lezi zivivinyo. Ezimweni ezikhethekile, kungase kuthathwe nezinye izibonelo zezicubu, njengengcezu encane yesikhumba (i-skin biopsy).

Ukuhlolwa okwengeziwe

Ezinye izivivinyo ingane yakho engase izidinge:

• Ukuhlolwa kwamazinyo
• I-Endoscopy (ukuhlolwa kwezitho zangaphakathi kusetshenziswa ipayipi elinekhamera)
• Ukuhlolwa kwamehlo
• Ukuhlolwa kwesikhumba
• Ukuhlolwa komnkantsha
• Ukuhlolwa kwezithombe ukuhlola izingxenye ezahlukene zomzimba (njengobuchopho, inhliziyo, amaphaphu, isibindi, amathambo)
• Ukuhlolwa kokusebenza kwamaphaphu
• Ukuhlolwa kokusebenza kwesistimu yomzimba
• Ukuhlolwa kwe-neuropsychological

Iphathwa kanjani i-dyskeratosis congenita?

Odokotela bahlela ukwelashwa ngokusekelwe ezidingweni zengane yakho. Akukho uhlelo lokwelapha olufanela wonke umuntu, njengoba lesi simo sithinta ingane ngayinye ngendlela ehlukile.

Ezinye zezindlela zokwelapha ezitholakalayo zifaka:

• Ukumpontshelwa igazi: Ukunikeza amangqamuzana abomvu egazi nama-platelet anempilo.
• Ukwelashwa kwe-Androgen: Kungasiza ekugcineni inani lamaseli egazi liphilile futhi kungandisa ama-telomere okwesikhashana.
• Ukufakelwa kwe-stem cell: Ukwehluleka kwe-bone marrow, i-MDS, noma i-leukemia kungelapheka. Kodwa-ke, lokhu kwenziwa kuphela ezimweni ezithile, lapho izinzuzo zidlula izingozi.

Ithimba lezokwelapha lengane yakho lizokhuluma nawe ngezinketho zokwelapha ezitholakalayo kuwe. Ukwelashwa kwamanje akukwazi ukwelapha ngokuphelele i-dyskeratosis congenita noma ukushintsha unomphela ubude be-telomere. Esikhundleni salokho, ukwelashwa kuhloselwe ukulawula izimpawu noma izinkinga ezithile zesifo. Abacwaningi basebenza kanzima ukuthola ukwelashwa okusha okungasiza izingane kanye nabantu abadala abanalesi simo.

Hlobo luni lodokotela abazokwelapha ingane yami?

Ukwelashwa kuhlelwa yithimba lodokotela elihlanganisa imikhakha eyahlukene. Ingane yakho ingaba "nekhaya lezokwelapha" noma udokotela oyinhloko osebenza eduze nawe futhi osebenzisana nabanye odokotela.

Ithimba lokunakekela ingane yakho lingafaka odokotela bezingane abajwayelekile, kanye nochwepheshe bezingane abafana nalaba:

• Odokotela bamazinyo
• Odokotela besikhumba
• Odokotela be-Endocrinologists
• Odokotela Bezifo Zesisu
• Odokotela begazi/odokotela be-oncologist
• Odokotela bezifo zomzimba
• Odokotela bezinzwa
• Ochwepheshe bamehlo `(Odokotela bamehlo)`
• Ochwepheshe bezindlebe, impumulo kanye nomphimbo (Otolaryngologists)
• Odokotela bezifo zamaphaphu
• Izazi zezakhi zofuzo

Uma ingane yami ine-dyskeratosis congenita, yini okufanele ngiyilindele?

Kunzima ukusho ngqo ukuthi ikusasa lengane yakho lizoba yini, noma ukuthi kuzokwenzekani esikhathini esizayo. I-Dyskeratosis congenita ingase inciphise isikhathi sokuphila kwengane. Kodwa kunzima ukusho ukuthi kungakanani.

Kunokungaqiniseki okuningi nge-dyskeratosis congenita. Ithimba lezokwelapha lengane yakho lizokunikeza ulwazi oluningi ngangokunokwenzeka, futhi lizochaza ukuthi ingane yakho izodinga kangaki ukuhlolwa kanye nokubonana nodokotela.

Iyini imbangela evame kakhulu yokufa ku-dyskeratosis congenita?

Imbangela evame kakhulu yokufa phakathi kwabantu abane-dyskeratosis congenita ukwehluleka komongo wethambo , okubangela ukutheleleka okukhulu kanye nokopha ngenxa yokuntuleka kwamaseli egazi anempilo.

Ezinye izimbangela ezivamile zokufa zihlanganisa izifo zamaphaphu kanye nomdlavuza.

Ingabe i-dyskeratosis congenita ingavinjelwa?

Okwamanje ayikho indlela eyaziwayo yokuvimbela lesi simo sofuzo. Uma wena noma othile emndenini wakho ene-dyskeratosis congenita, kungumqondo omuhle ukukhuluma nomeluleki wezakhi zofuzo . Bangakusiza uqonde amathuba okuthi izingane zakho zizozuza lesi simo njengefa.

Yini engingayenza ukuze nginakekele ingane yami?

Ukuthola ukuthi ingane yakho ine-dyskeratosis congenita kungaba yinto enzima kakhulu. Kodwa-ke, kunezinto eziningi ongazenza ukusekela impilo yengane yakho nokunciphisa ingozi yezinkinga.

Abantu abane-dyskeratosis congenita basengozini enkulu yokuthola umdlavuza othile kanye nezifo zamaphaphu. Izici zemvelo ezifana nokuchayeka elangeni nokubhema zandisa le ngozi. Ungasiza ingane yakho ngokuyikhuthaza ukuthi:

• Sebenzisa izinto zokuvikela ilanga kanye nezingubo zokuzivikela (njengezigqoko nezingubo ezinemikhono emide) uma uphuma ngaphandle.
• Nciphisa isikhathi sakho elangeni eliqondile.
• Gwema yonke imikhiqizo kagwayi ngokuphelele.
• Nciphisa noma uyeke ngokuphelele ukuphuza utshwala.

Ithimba lezokwelapha lengane yakho lizokunikeza iseluleko ngokusekelwe ezidingweni zengane yakho. Bangase futhi bancome amaqembu okwelulekwa noma okusekela. Isibonelo, kunezinhlangano eziningi ezisiza abantu abanezifo ezingavamile. Ithimba iTelomere liyiqembu labantu abane-dyskeratosis congenita nezinye izinkinga zebhayoloji ye-telomere.

Kufanele ngifune nini usizo lwezokwelapha lwengane yami?

Ingane yakho izoba nezikhathi eziningi zokubonana nodokotela. Ithimba labo lezokwelapha lizokutshela ngqo ukuthi obani odokotela okufanele ubabone nokuthi kangaki.

Lokhu kuvakashela odokotela kubaluleke kakhulu. Kuvumela odokotela ukuthi baqaphe isimo sengane yakho futhi balungise ukwelashwa njengoba kudingeka. Ezinye zezinkinga ze-dyskeratosis congenita zingase zingabonakali njalo ekhaya. Izinto ezifana nokwehla kwamathambo kanye nezimpawu zokuqala zomdlavuza zingatholakala kuphela ngokuhlolwa.

Odokotela bangase bakufundise nokuthi ungazihlola kanjani ekhaya izinto ezifana nomdlavuza wesikhumba nomdlavuza womlomo. Lokhu akuthathi indawo yokubona udokotela. Kodwa-ke, kuyindlela ebalulekile yokubona ezinye izimpawu kusenesikhathi bese uthola ingane yakho yelashwa ngokushesha.

Yimiphi imibuzo okufanele ngiyibuze ithimba lezokwelapha lengane yami?

Ngemva kokuxilongwa ukuthi une-dyskeratosis congenita, le mibuzo ingakusiza ukuthi ufunde kabanzi:

• Ziyini izimpawu zengane yami?
• Yiziphi izinkinga ezingaba khona?
• Yikuphi ukwelashwa okuncomayo?
• Yiziphi izinzuzo nezingozi zalokhu kwelashwa?
• Ungancoma iqembu lokusekela noma ezinye izinsiza?
• Ngingamchazela kanjani ingane yami ngalesi simo?
• Ingabe ukuhlolwa kofuzo kunconywa kimi noma kwamanye amalungu omndeni?

Kungaba usizo ukubuza le mibuzo ezinganeni ezindala kanye nezingane ezincane:

• Ngingamsiza kanjani ingane yami ukuthi ithwale umthwalo wemfanelo wokunakekelwa kwayo kwempilo ngendlela efanele iminyaka yayo?
• Kufanele silungiselele kanjani futhi nini ukudlulisela ingane yami kusuka kodokotela bezingane iye kodokotela abadala?

Ake sifunde okwengeziwe ngokuthi ayini ama-telomere.

Kulungile, sikhulume kancane ngama-telomere ngaphambilini. Lezi yizilandelaniso eziphindaphindayo ze-DNA ekugcineni kwe-chromosome ngayinye yengane yakho. Izakhi zofuzo zengane yakho ngayinye zitholakala phakathi kwalezi zi-telomere ezimbili. Odokotela bazifanisa nezimbobo zepulasitiki ezisemaphethelweni ezimbobo zezicathulo. Njengoba nje lezo zimbobo zivikela izimbobo zezicathulo ekuqhekekeni, ama-telomere avikela izakhi zofuzo zengane yakho.

Ama-chromosome atholakala cishe kuwo wonke amaseli emzimbeni wengane. Lawo maseli ahlala eziphindaphinda. Yilokho okugcina izitho nezicubu zengane zisebenza kahle.

Njalo uma iseli lihlukana, lenza amakhophi ama-chromosome alo. Njalo uma lokhu kwenzeka, ama-telomere aku-chromosome aba mafushane kancane. Lokhu kuvamile. I-enzyme ebizwa ngokuthi i-telomerase iyangena futhi ilungisa lawo ma-telomere abe nobude obunempilo ukuze iseli liqhubeke nokuhlukana. Uma ama-telomere eba mafushane kakhulu, iseli liyayeka ukuhlukana.

Ku-dyskeratosis congenita, ukuguquka kwezakhi zofuzo kubangela ama-telomere ukuba abe mafushane ngendlela engavamile. Lokhu kungenzeka ngezindlela ezahlukene. Isibonelo, ukuguquka kwezakhi zofuzo kungaphazamisa ukukhiqizwa kwe-telomerase. Noma i-telomerase ingakwazi ukufinyelela ama-telomere. Ngakho-ke, ama-telomere engane yakho aba mafushane futhi angaphinde akhule.

Uma ama-telomere esitokisini eba mafushane kakhulu, lelo seli liyayeka ukwenza amakhophi alo. Njengoba amaseli amaningi eyeka ukuhlukana, izitho nezicubu ezahlukahlukene emzimbeni wengane zilahlekelwa yilokho ezikudingayo ukuze zisebenze kahle. Yileyo ndlela ama-telomere amafushane abangela ngayo izimpawu nezinkinga ze-dyskeratosis congenita.

Ingabe lokhu kufana ne-Zinsser-Cole-Engman syndrome?

Yebo, i-Zinser-Cole-Engman syndrome kanye ne-dyskeratosis congenita amagama amabili esimo esifanayo. Abacwaningi abathola lesi simo ngo-1906 basiqamba ngokuthi i-Zinser-Cole-Engman syndrome. Kodwa namuhla, abantu abaningi bayibiza ngokuthi i-dyskeratosis congenita.

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Ulwazi lungamandla. Kodwa ngezinye izikhathi, ngisho noma unalo lonke ulwazi emhlabeni, usengazizwa ungenalusizo. Uma uthola ukuthi ingane yakho ine-dyskeratosis congenita, unemibuzo eminingi. Kungaba okufanayo noma ngabe unalesi simo wena ngokwakho - ngoba izimo zofuzo ezidluliselwa emindenini azithinti wonke umuntu ngendlela efanayo.

Odokotela bengane yakho bangakusiza uqonde isimo nezidingo zengane yakho. Bangumthombo ongcono kakhulu wolwazi mayelana nokuthi lesi simo sithinta kanjani umzimba wengane yakho. Futhi, khumbula ukuthi kukhona umphakathi wonke wabantu abanezifo ezingavamile abakulungele ukukusekela. Bangakunikeza iseluleko ngokuhlangenwe nakho kwabo. Bayakwazisa nalokho okushoyo. Ukwazi ukuthi awuwedwa kungakusiza ukuthi uqhubekele phambili.

I- Dyskeratosis congenita, izifo zofuzo, ama-telomere, umnkantsha wamathambo, izimpawu zesikhumba, izinguquko zezinzipho, ingozi yomdlavuza