Yintoni iDyskeratosis Congenita? Ngaba umntwana wakho unazo ezi mpawu? Masithethe!

Ngaba ukhe waphawula naluphi na utshintsho olungaqhelekanga eluswini lomntwana wakho, ezinzipho, okanye emlonyeni wakhe? Ngamanye amaxesha ezi zinto zinokubonakala ziqhelekile, kodwa kunokubakho imeko engaqhelekanga yemfuza emva kwazo. Enye yezi meko yiDyskeratosis Congenita , ngamanye amaxesha ifinyezwa ngokuthi (DC) okanye (DKC). Oku kunokuvakala kuyinkimbinkimbi kancinci, kodwa masikugcine kulula kwaye kulula ukukuqonda.

Yintoni kanye kanye iDyskeratosis Congenita?

Ngamafutshane, i-dyskeratosis congenita yimeko engaqhelekanga kakhulu yemfuza. Ingachaphazela iindawo ezininzi zomzimba womntwana wakho. Amaxesha amaninzi, iimpawu zokuqala zivela eluswini, ezinzipho, nangaphakathi emlonyeni ngaphambi kokuba umntwana abe neminyaka eli-10 ubudala. Kwabanye abantwana, uphawu lokuqala lwesi sifo lunokuba yinto efana nokungasebenzi kakuhle komongo wethambo. Oku ngamanye amaxesha kunokukhokelela kwiingxaki ezinkulu, ezinje ngomhlaza, ebuntwaneni, ebusheni, okanye ebudaleni.

Le meko, ebizwa ngokuba yi-dyskeratosis congenita, ikwiqela elikhulu leengxaki zebhayoloji ye-telomere . Cinga ngayo njengeengqayi ezincinci zeplastiki ezisekupheleni kweentambo zethu zezihlangu. Ezi zikwiziphelo zeechromosomes zethu - izakhiwo eziqulathe iijini zethu (i-DNA). Ezi telomere zikhusela iijini zethu. Zezona zigcina amalungu ethu kunye nezicubu emzimbeni wethu zikhula kwaye zisebenza ngokufanelekileyo. Kodwa kumntwana one-dyskeratosis congenita, ezi telomere zimfutshane kunokuba zifanele ukuba njalo. Yiyo loo nto kuvela iingxaki ezahlukeneyo.

Kukho ezinye iingxaki ze-telomere ezifana nezi:

• Isifo sikaHoyeraal Hreidarsson (HH)
• Isifo seRevesz (RS)
• I-Coats plus syndrome

Ziziphi iimpawu ze-dyskeratosis congenita?

Abaphandi baqale bafumanisa iimpawu ezintathu eziphambili kubantwana abane-"classic dyskeratosis congenita" (classic DC):

1. Ukwahluka kombala wolusu: Ulusu olusentanyeni yomntwana, esifubeni esingaphezulu, nasezingalweni zakhe lunokubonakala lufana ne-mesh okanye i-lace. Ulusu oluchaphazelekileyo lunokukhanya okanye lube mnyama kunolusu oluqhelekileyo lomntwana.

2. Ukukhubazeka okanye ukulahleka kweenzipho: Ungabona imiqolo okanye imingxunya kwinzipho zakho zeminwe kunye/okanye kwiinzipho zeenyawo. Zinokuxobuka, zikhule kancinci, okanye zibe mfutshane kunesiqhelo. Ngamanye amaxesha, iinzipho zakho zinokuba mfutshane kunesiqhelo, okanye zisenokunyamalala ngokupheleleyo. Olu tshintsho lunokuchaphazela kuphela ezinye iinzipho, ngelixa ezinye zinokuhlala ziqhelekile.

3. I-Leukoplakia: Amabala amhlophe atyebileyo anokubonakala kulwimi lomntwana okanye ngaphakathi ezidleleni.

Oogqirha babiza ezi mpawu zintathu ngokuthi "yi-mucocutaneous triad."Igama elithi "Muco" libhekisa kulwelo lomlomo, kwaye elithi "cutaneous" libhekisa kulusu. Nangona kunjalo, i-dyskeratosis congenita yimeko enzima kakhulu echaphazela umntwana ngamnye ngendlela eyahlukileyo kancinci.

Umzekelo, abanye abantwana banokuba nokusilela komongo wethambo ngaphambi kokuba kuvele ezi mpawu zintathu. Oogqirha banokufumanisa i-dyskeratosis congenita xa besenza uvavanyo lokufumanisa unobangela wokusilela komongo wethambo.

Abanye abantwana banokuba neempawu ezininzi ezahlukeneyo ezibonakala zinganxulumananga, kodwa kuphela emva kovavanyo apho oogqirha baqonda ukuba unobangela yi-dyskeratosis congenita.

Ezinye iimpawu ezinokwenzeka:

• Iingxaki ezinxulumene namathambo: I-Osteoporosis (ukubhitya kwamathambo), ukwaphuka kwamathambo, kunye ne-avascular necrosis yamathambo ezinqeni nasemagxeni.
• Umhlaza: I-Leukemia, umhlaza wolusu, umhlaza weeseli ze-squamous zentloko/intamo.
• Iingxaki zokulinganisela kunye nokulungelelanisa: Ubunzima bezinto ezifana nokuhamba (ataxia).
• Ukwehla kwemveliso yeehomoni zesini (i-hypogonadism).
• Ubuthathaka benkqubo yomzimba yokuzikhusela (ukungakwazi ukuzikhusela komzimba).
• Iingxaki zamazinyo: Ukubola kwamazinyo kakhulu, amazinyo akhululekileyo.
• Ukulibaziseka kophuhliso okanye ukukhubazeka.
• Ukuncitshiswa kwe-esophageal: Oku kunokubangela ubunzima bokuginya, ukuhlanza, kunye nokutyeba.
• Ukubila okugqithisileyo.
• Ukulahleka kweenwele okanye ukuba ngwevu ngaphambi kwexesha.
• Isifo sesibindi.
• Izifo zemiphunga.
• Ubude obufutshane .
• Intloko encinci `(microcephaly)` .
• Ukuncitshiswa komchamo .
• Amehlo anamanzi kunye nosulelo lweenkophe.

Yintoni ebangela i-dyskeratosis congenita?

I-Dyskeratosis congenita ibangelwa kukutshintsha kwezakhi zofuzo/utshintsho . Ngokukodwa, njengoko benditshilo ngaphambili, ichaphazela izakhi zofuzo ezilawula ukusebenza kweetelomere zomntwana wakho.

Xa ii-telomere zingasebenzi kakuhle, ezinye zeeseli emzimbeni womntwana azikwazi ukusebenza kakuhle. Oku kunokubangela ukungabikho kweeseli zegazi, ukungasebenzi kakuhle kwamalungu omzimba, kunye nezinye iingxaki.

Ingaba le yinto evela kwizizukulwana ngezizukulwana?

Ewe, i-dyskeratosis congenita inokudluliselwa kwizizukulwana ngezizukulwana. Umntwana angayizuza njengelifa kumzali omnye okanye bobabini. Nangona kunjalo, kunokwenzeka ukuba umntwana ayifumane okokuqala, nokuba akukho mntu kusapho lwakhe owayenayo le meko ngaphambili.

Ziziphi ii-genes ezibandakanyeka kwi-dyskeratosis congenita?

Nazi ezinye zezakhi zofuzo abaphandi abaqhele ukuzidibanisa ne-dyskeratosis congenita kunye neengxaki zebhayoloji ye-telomere:

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

Ziziphi iingxaki ezinokubakho ze-dyskeratosis congenita?

Le meko ingakhokelela kwiingxaki ezahlukeneyo, ezinye zazo zezi:

• Ukungasebenzi kakuhle komongo wethambo: Le yeyona ngxaki ixhaphakileyo. Idla ngokuvela ngaphambi kokuba ufikelele kwiminyaka engama-30 ubudala.
• I-pulmonary fibrosis
• I-Myelodysplastic syndrome (MDS) (ingxaki yokuveliswa kweeseli zegazi kumongo wethambo)
• I-Acute myeloid leukemia (AML) (uhlobo lomhlaza wegazi)
• Umhlaza wentloko nentamo
• Umhlaza wolusu
• I-fibrosis yesibindi

I-dyskeratosis congenita ifunyanwa nini kwiminyaka?

Amaxesha amaninzi, esi sifo sifunyanwa ngexesha lobuntwana okanye lokufikisa, kuba kulapho kuvela khona iimpawu zokuqala. Nangona kunjalo, abanye abantu basenokungabonakalisi zimpawu de babe badala, kwaye basenokungabonwa nokuba banaso esi sifo.

Oogqirha bayixilonga njani le meko?

Oogqirha benza oku kulandelayo ukuze baxilonge i-dyskeratosis congenita:

• Uza kubuzwa ngeempawu zomntwana wakho.
• Imbali yezonyango yomntwana nosapho iyahlolwa.
• Ukwenza uvavanyo lomzimba.
• Iimvavanyo ezikhethekileyo ziyayalelwa.

Oogqirha bakhangela iimpawu ezaziwayo zesifo (ezifana notshintsho lolusu, utshintsho lwezipikili, amabala amhlophe emlonyeni) baze basebenzise iziphumo zovavanyo ukuqinisekisa ukuba i-dyskeratosis congenita yimbangela yezo mpawu okanye akunjalo.

Uvavanyo lweDyskeratosis Congenita (DKC)

Ugqirha wakho unokuyalela uvavanyo oluninzi lomntwana wakho. Olunye luya kunceda ngokuthe ngqo ekuxilongweni, ngelixa olunye lunokubonisa ezinye iimpawu ezinokuchaphazela impilo yomntwana wakho kunye nesicwangciso sonyango.

Iimvavanyo ezimbini eziphambili zokuxilonga i-dyskeratosis congenita zezi:

• I-Flow cytometry: Oku kulinganisa ubude beetelomere zomntwana wakho. Iziphumo zovavanyo zibonelela ngobude beetelomere kunye ne-percentile. Le percentile ibonisa indlela ubude beetelomere zomntwana wakho obuthelekiswa ngayo nobude beetelomere zabanye abantwana abaneminyaka yabo.
• Uvavanyo lwe-genetic: Olu vavanyo lujonga utshintsho lwe-genetic oluhambelana ne-dyskeratosis congenita.

Amaxesha amaninzi, kuthathwa isampuli yegazi kwezi mvavanyo. Kwiimeko ezikhethekileyo, ezinye iisampuli zezicubu, ezifana neqhekeza elincinci lesikhumba (i-skin biopsy), nazo zinokuthathwa.

Uvavanyo olongezelelweyo

Ezinye iimvavanyo umntwana wakho anokuzifuna:

• Ukuhlolwa kwamazinyo
• I-Endoscopy (uvavanyo lwamalungu angaphakathi kusetyenziswa ityhubhu enekhamera)
• Ukuhlolwa kwamehlo
• Uvavanyo lolusu
• Uvavanyo lomongo wethambo
• Uvavanyo lwemifanekiso ukuze kuhlolwe iindawo ezahlukeneyo zomzimba (ezifana nengqondo, intliziyo, imiphunga, isibindi, amathambo)
• Uvavanyo lomsebenzi wemiphunga
• Uvavanyo lokusebenza kwenkqubo yomzimba yokuzikhusela
• Uvavanyo lwe-neuropsychological

Iphathwa njani i-dyskeratosis congenita?

Oogqirha baceba unyango olusekelwe kwiimfuno zomntwana wakho. Akukho sicwangciso sonyango esifanela bonke umntwana ngamnye, njengoko esi simo sichaphazela umntwana ngamnye ngendlela eyahlukileyo.

Ezinye zeendlela zonyango ezikhoyo ziquka:

• Utofelo-gazi: Ukubonelela ngeeseli ezibomvu zegazi kunye neeplatelets ezisempilweni.
• Unyango lwe-Androgen: Lunokunceda ukugcina inani leeseli zegazi liphilile kwaye lunokwandisa okwethutyana ii-telomeres.
• Ukufakelwa kweeseli ze-stem: Ukusilela komongo wethambo, i-MDS, okanye i-leukemia kunokunyangeka. Nangona kunjalo, oku kwenziwa kuphela kwiimeko ezithile, xa iingenelo zingaphezulu kweengozi.

Iqela lezonyango lomntwana wakho liza kuthetha nawe malunga neendlela zonyango ezikhoyo kuwe. Unyango lwangoku alunakunyanga ngokupheleleyo i-dyskeratosis congenita okanye lutshintshe ubude be-telomere ngokusisigxina. Endaweni yoko, unyango lujolise ekulawuleni iimpawu ezithile okanye iingxaki zesifo. Abaphandi basebenza nzima ukufumana unyango olutsha olunokunceda abantwana kunye nabantu abadala abanesifo.

Ngabaphi oogqirha abaza kunyanga umntwana wam?

Unyango lucwangciswa liqela loogqirha abahlukeneyo. Umntwana wakho usenokuba nogqirha "wekhaya lezonyango" okanye ugqirha oyintloko osebenza ngokusondeleyo nawe kwaye osebenzisana nabanye oogqirha.

Iqela lokhathalelo lomntwana wakho lingabandakanya oogqirha babantwana ngokubanzi, kunye neengcali zabantwana ezifana nezi:

• Iingcali zamazinyo
• Iingcali zesikhumba
• Iingcali ze-Endocrinologists
• Iingcali ze-Gastroenterologists
• Iingcali zegazi/iingcali zomhlaza
• Iingcali ze-immunology
• Iingcali ze-Neurology
• Iingcali zamehlo `(Ophthalmologists)`
• Iingcali zeendlebe, impumlo nomqala (iingcali ze-otolaryngologists)
• Iingcali zePulmonologists
• Iingcali zemfuza

Ukuba umntwana wam une-dyskeratosis congenita, ndimele ndilindele ntoni?

Kunzima ukutsho ngqo ukuba ikamva lomntwana wakho liza kuba njani, okanye ukuba kuza kwenzeka ntoni kwixesha elizayo. I-Dyskeratosis congenita isenokunciphisa ubomi bomntwana. Kodwa kunzima ukutsho ukuba ingakanani.

Kukho izinto ezininzi ezingaqinisekanga nge-dyskeratosis congenita. Iqela lezonyango lomntwana wakho liza kukunika ulwazi oluninzi kangangoko, kwaye liza kuchaza ukuba umntwana wakho uza kufuna iimvavanyo kangaphi kunye nokubonana nogqirha.

Yintoni eyona nto ibangela ukufa kwi-dyskeratosis congenita?

Eyona nto ixhaphakileyo yokufa phakathi kwabantu abane-dyskeratosis congenita kukusilela komongo wethambo , okubangela usulelo olukhulu kunye nokopha ngenxa yokungabikho kweeseli zegazi eziphilileyo.

Ezinye izizathu eziqhelekileyo zokufa ziquka isifo semiphunga kunye nomhlaza.

Ngaba i-dyskeratosis congenita ingathintelwa?

Okwangoku akukho ndlela eyaziwayo yokuthintela esi sifo semfuza. Ukuba wena okanye umntu kusapho lwakho une-dyskeratosis congenita, kulungile ukuthetha nomcebisi wezemfuza . Banokukunceda uqonde amathuba okuba abantwana bakho bafumane esi sifo njengelifa.

Ndingenza ntoni ukuze ndinyamekele umntwana wam?

Ukufumanisa ukuba umntwana wakho une-dyskeratosis congenita kunokuba nzima kakhulu. Nangona kunjalo, zininzi izinto onokuzenza ukuxhasa impilo yomntwana wakho nokunciphisa umngcipheko weengxaki.

Abantu abane-dyskeratosis congenita basengozini enkulu yokufumana ezinye iintlobo zomhlaza kunye nezifo zemiphunga. Izinto ezingqongileyo ezifana nokuchatshazelwa lilanga kunye nokutshaya ziyandisa le ngozi. Ungamnceda umntwana wakho ngokumkhuthaza ukuba:

• Sebenzisa izithambisi zelanga kunye nezixhobo zokuzikhusela (ezifana neminqwazi kunye nempahla enemikhono emide) xa uphuma ngaphandle.
• Nciphisa ixesha lakho elangeni ngqo.
• Ziphephe ngokupheleleyo zonke iimveliso zecuba.
• Nciphisa okanye uyeke ngokupheleleyo ukusela utywala.

Iqela lezonyango lomntwana wakho liza kunika iingcebiso ngokusekelwe kwiimfuno zomntwana wakho. Banokucebisa amaqela eengcebiso okanye enkxaso. Umzekelo, kukho imibutho emininzi enceda abantu abanezifo ezingaqhelekanga. Iqela leTelomere liqela labantu abane-dyskeratosis congenita kunye nezinye iingxaki zebhayoloji yetelomere.

Ndifanele ndifune nini uncedo lwezonyango kumntwana wam?

Umntwana wakho uza kuba neentlanganiso ezininzi kugqirha. Iqela labo lezonyango liza kukuxelela ngqo ukuba ngoobani oogqirha ekufuneka ubabone kwaye kangaphi.

Olu tyelelo kugqirha lubaluleke kakhulu. Luvumela oogqirha ukuba bajonge imeko yomntwana wakho baze balungise unyango njengoko kufuneka. Ezinye zeengxaki ze-dyskeratosis congenita zisenokungabonakali rhoqo ekhaya. Izinto ezinje ngokuncipha koxinano lwamathambo kunye neempawu zokuqala zomhlaza zinokufunyanwa kuphela ngovavanyo.

Oogqirha banokukufundisa nendlela yokuzihlola ekhaya izinto ezifana nomhlaza wolusu kunye nomhlaza womlomo. Ezi azithathi indawo yokubonana nogqirha. Nangona kunjalo, ziyindlela ebalulekileyo yokubona ezinye iimpawu kwangethuba kwaye umntwana wakho anyangwe ngokukhawuleza.

Yeyiphi imibuzo endifanele ndiyibuze iqela lezonyango lomntwana wam?

Emva kokuba ufunyaniswe une-dyskeratosis congenita, le mibuzo inokukunceda ufunde okungakumbi:

• Zithini iimpawu zomntwana wam?
• Ziziphi iingxaki ezinokubakho?
• Loluphi unyango olucebisayo?
• Zithini iingenelo kunye neengozi zale nyango?
• Ungacebisa iqela lenkxaso okanye ezinye izixhobo?
• Ndingayichaza njani le meko kumntwana wam?
• Ngaba uvavanyo lwemfuza luyacetyiswa kum okanye kwamanye amalungu osapho?

Kunganceda ukubuza le mibuzo kubantwana abadala nakubantwana abancinci:

• Ndingamnceda njani umntwana wam ukuba athathe uxanduva lwempilo yakhe ngendlela efanelekileyo ngokweminyaka yakhe?
• Sifanele silungiselele njani kwaye nini ukudlulisela umntwana wam ukusuka koogqirha babantwana ukuya koogqirha abadala?

Makhe sifunde okungakumbi malunga nokuba ziintoni iitelomere.

Kulungile, sithethe kancinci ngeetelomere ngaphambili. Ezi ziindlela eziphindaphindayo zeDNA ekupheleni kwechromosome nganye yomntwana wakho. Ijini nganye yomntwana wakho iphakathi kwezi telomere zimbini. Oogqirha bazifanisa nezigqubuthelo zeplastiki ezisemaphethelweni ezigqubuthelo. Njengokuba ezo zigqubuthelo zikhusela imitya yesihlangu ekuqhekekeni, iitelomere zikhusela iijini zomntwana wakho.

Ii-chromosome zifumaneka phantse kuzo zonke iiseli emzimbeni womntwana. Ezo seli zihlala ziziphindaphinda. Yiyo loo nto igcina amalungu omzimba kunye nezicubu zomntwana zisebenza kakuhle.

Ngalo lonke ixesha iseli yahlukana, yenza iikopi zeechromosomes zayo. Ngalo lonke ixesha oku kusenzeka, iitelomeres kwichromosome ziba mfutshane kancinci. Oku kuqhelekile. I-enzyme ebizwa ngokuba yi-telomerase ingena ize ilungise ezo telomeres zibe nobude obufanelekileyo ukuze iseli iqhubeke yahlukana. Ukuba iitelomeres ziba mfutshane kakhulu, iseli iyayeka ukwahlukana.

Kwi-dyskeratosis congenita, utshintsho lwezakhi zofuzo lubangela ukuba ii-telomere zibe mfutshane ngendlela engaqhelekanga. Oku kunokwenzeka ngeendlela ezahlukeneyo. Umzekelo, utshintsho lwezakhi zofuzo lunokuphazamisana nokuveliswa kwe-telomerase. Okanye i-telomerase ingakwazi ukufikelela kwii-telomere. Ngoko ke, ii-telomere zomntwana wakho ziba mfutshane kwaye zingaphinde zikhule.

Xa ii-telomeres kwiseli ziba mfutshane kakhulu, loo seli ayizikhuphi. Njengoko iiseli ezininzi ziyeka ukwahlukana, amalungu kunye nezicubu ezahlukeneyo emzimbeni womntwana zilahlekelwa zizinto ezifunekayo ukuze zisebenze ngokufanelekileyo. Yiyo loo nto ii-telomeres ezimfutshane zibangela iimpawu kunye neengxaki ze-dyskeratosis congenita.

Ingaba oku kuyafana neZinsser-Cole-Engman syndrome?

Ewe, i-Zinser-Cole-Engman syndrome kunye ne-dyskeratosis congenita ngamagama amabini emeko efanayo. Abaphandi abafumanisa le meko ngo-1906 bayibiza ngokuba yi-Zinser-Cole-Engman syndrome. Kodwa namhlanje, uninzi lwabantu luyibiza ngokuba yi-dyskeratosis congenita.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Ulwazi lunamandla. Kodwa ngamanye amaxesha, nangona ulwazi lukhona emhlabeni, usenokuziva ungenakunceda. Xa ufumanisa ukuba umntwana wakho une-dyskeratosis congenita, unemibuzo emininzi. Inokuba yinto efanayo nokuba nawe unayo le meko - kuba iimeko zemfuza ezidluliselwa kwiintsapho azichaphazeli wonke umntu ngendlela efanayo.

Oogqirha bomntwana wakho banokukunceda uqonde imeko kunye neemfuno zomntwana wakho. Ngabo mthombo ongcono wolwazi malunga nendlela le meko echaphazela ngayo umzimba womntwana wakho. Kwakhona, khumbula ukuba kukho lonke uluntu lwabantu abanezifo ezingaqhelekanga abakulungeleyo ukukuxhasa. Banokukunika iingcebiso ngamava abo. Bakwaxabisa oko ukuthethayo. Ukwazi ukuba awuwedwa kunokukunceda uqhubele phambili.

I- Dyskeratosis congenita, izifo zemfuza, ii-telomeres, umongo wethambo, iimpawu zolusu, utshintsho lwezipikili, umngcipheko womhlaza