Yintoni iWolfram Syndrome? Makhe sithethe ngayo!

Ngaba wakha weva ngeWolfram Syndrome? Eli gama lisenokuba litsha kuwe. Liyimeko engaqhelekanga yemfuza echaphazela abantu abambalwa kakhulu, kodwa inokuba yingozi kakhulu. Ingonakalisa ingqondo yakho kunye nezinye izicwili emzimbeni wakho. Kubalulekile ukuba uqaphele le meko, ingakumbi kuba iimpawu zinokuqala ukubonakala kwasebuntwaneni.

Yintoni kanye kanye iWolfram Syndrome?

Ngamafutshane, iWolfram syndrome yimeko yemfuza edluliselwa kwizizukulwana ngezizukulwana. Sisifo esibangela ukuwohloka kwemithambo-luvo, nto leyo ethetha ukuba yonakalisa ingqondo kunye nenkqubo yemithambo-luvo ngokuhamba kwexesha. Oku kubangela ukuba iimpawu zikhule kancinci kancinci, zihlala ziqala ebuntwaneni zize ziqhubeke zibe ngabantu abadala. Isifo seswekile kunye neengxaki zokubona zihlala ziyimpawu zokuqala zesifo ngaphambi kokuba umntu abe neminyaka eli-15 ubudala. Ekuhambeni kwexesha, ukusebenza kwengqondo kunokuphazamiseka kwaye ngamanye amaxesha kube yingozi kubomi.

Ngaba kukho iintlobo zeWolfram Syndrome?

Ewe, oogqirha bafumene iintlobo ezimbini zezakhi zofuzo ezinxulumene nesi sifo. Uyazi, izakhi zofuzo ziziqwenga ezincinci ze-DNA eziqulethe lonke ulwazi olusemizimbeni yethu. Abantu abane-Wolfram syndrome banotshintsho oluthile kwezi zakhi zofuzo, esizibiza ngokuba ziinguqu. Ngoko ke, zihlelwa ngokwezakhi zofuzo ezichaphazelekayo:

• Uhlobo 1 lwesifo sikaWolfram: Oku kubangelwa kukuguquka kwejini ekuthiwa yi-(WFS1 gene).
• Uhlobo lwesi-2 lwesifo sikaWolfram: Oku kubangelwa kukuguquka kwejini ekuthiwa yi-(WFS2 (CISD2) gene).

Kunokubakho umahluko omncinci kwiimpawu zezi ntlobo zimbini.

Esi sifo sizuzwa njani njengelifa?

Ngokwesiqhelo, ukuze umntwana abe neWolfram syndrome, bobabini abazali kufuneka babe ngabathwali be-gene mutation ebangela esi sifo. Oku kuthetha ukuba umntwana kufuneka azuze i-gene eguquliweyo kubazali bobabini. Nangona kunjalo, kunqabile kakhulu, i-Wolfram syndrome type 1 inokuzuzwa kumzali omnye kuphela.

Ixhaphake kangakanani iWolfram Syndrome?

Ngenxa yokuba sisifo esingaqhelekanga, kunzima ukutsho ukuba bangaphi abantu abanaso. Olunye uphando lufumanise ukuba e-United Kingdom, esi sifo sichaphazela malunga nomntu omnye kwabayi-770,000 . Izifundo ezivela kwamanye amazwe zibonise ukuba esi sifo sixhaphake kakhulu kwezinye iindawo, ingakumbi kwiindawo apho izalamane ezisondeleyo zitshata kwaye zinabantwana.

Uhlobo lwesibini lwesifo iWolfram syndrome lunqabile nangakumbi. Lubikwe kwiintsapho ezimbalwa kwihlabathi liphela.

Ziziphi iimpawu eziphambili zesifo seWolfram syndrome uhlobo 1?

Ayingabo bonke abantu abane-Wolfram syndrome type 1 abaya kuba neempawu ezifanayo, kwaye zinokuhluka kumntu nomntu. Nangona kunjalo, rhoqo, ezi mpawu zivela ngokulandelelana okuthile, ngexesha lobuntwana kunye nokufikisa. Nantsi indlela eqhelekileyo, kunye nobudala obuqhelekileyo apho iimpawu zivela khona:

• Isifo seswekile - Ngokwesiqhelo xa uneminyaka emi-6 ubudala: Isifo seswekile ...

• I-Optic Atrophy - Idla ngokuvela xa uneminyaka eli-11 ubudala: Oku kukonakala kancinci kancinci kwe-optic nerve, ethwala imiyalezo esuka emehlweni iye engqondweni. Oku kukwabizwa ngokuba yi-Optic Atrophy. Iimpawu zingabandakanya ukubona okufipheleyo, ukungakwazi ukucaca, ukungakwazi ukubona imibala, okanye ukungakwazi ukubona izinto ezingaphandle . Umzekelo, oonobumba abakwiphephandaba basenokungasacaci njengoko babenjalo ngaphambili, okanye umntwana usenokungakwazi ukubona ibhodi emnyama esikolweni.

• Ukulahlekelwa kukuva kwe-sensorineural - Ngokwesiqhelo kwenzeka xa umntu eneminyaka eli-13 ubudala: Oku kukulahlekelwa kukuva okubangelwa kukonakala kweendawo ezibuthathaka zendlebe yangaphakathi. Oku kubizwa ngokuba kukulahlekelwa kukuva kwe-sensorineural. Oku kulahlekelwa kukuva kunokuba mandundu njengoko ukhula, kwaye kwezinye iimeko , kunokukhokelela ekubeni ube sisithulu ngokupheleleyo. Kuya kufuneka uvule iTV ukuze uve, okanye kuya kufuneka ubuze "Usandul' ukuthini?" xa umntu ethetha.

• Isifo seswekile i-Insipidus - Sidla ngokuba neminyaka eli-14 ubudala: Asikuko na oku isifo seswekile i-(Diabetes Mellitus) esikhankanyiweyo apha ngasentla? Oku kubizwa ngokuba yi-(Diabetes Insipidus). Okwenzekayo koku kukuba i-(i-antidiuretic hormone) elawula ubungakanani bamanzi kumchamo wethu ayiveliswanga ngokufanelekileyo, okanye umzimba awuphenduli ngokufanelekileyo. Oku kubangela ukuba kukhutshwe umchamo omninzi, okufana namanzi amaninzi. Ngenxa yokuchama kakhulu, ukuphelelwa ngamanzi emzimbeni, ukungalingani kwe-electrolyte, ubuthathaka, umlomo owomileyo, kunye nokuqhina.

I-Wolfram syndrome inegama elidala elithi, (DIDMOAD). Yenziwa ngokuhlanganisa oonobumba bokuqala bezi mpawu ziphambili:

* Isifo seswekile Insipidus (DI) - Urhudo

* Isifo seswekile i-Mellitus (DM) - Isifo seswekile

* I-Optic Atrophy (OA) - Ukuphazamiseka kokubona

* Ukungeva (D) - Ukungakwazi ukuva/ukungeva

Ziziphi ezinye iimpawu zesifo seWolfram syndrome uhlobo 1?

Ukongeza kwezo mpawu zine ziphambili, ezinye iimpawu zinokuvela. Kodwa ezi azibonakali kuye wonke umntu.

• Iingxaki zehomoni: I-Hypopituitarism, i-hypogonadism, ukulibaziseka kokukhula, kunye nokuqala kokuya exesheni kwamantombazana.
• Iimpawu ezinxulumene nenkqubo yemithambo-luvo: ukungazinzi ekuhambeni nasekushukumeni (ataxia), ukulahlekelwa yinkumbulo kunye nokukwazi ukucinga (dementia), iintloko ezibuhlungu, ukuyeka ukuphefumla ixesha elifutshane ngexesha lokulala (i-central sleep apnea), ukuxhuzula (i-epilepsy), kunye nokulahlekelwa yincasa nevumba.
• Iingxaki zengqondo: ukudakumba, ixhala, ukuhlaselwa luloyiko, ukutshintsha kweemvakalelo, kwaye ngamanye amaxesha ukuziphatha okunobundlobongela.
• Iingxaki zenkqubo yomchamo: Usulelo oluqhelekileyo lwendlela yomchamo, ukungakwazi ukuzibamba komchamo, kunye nokungapheleli kokuphuma kwesinyi.

Ziziphi iimpawu zesifo seWolfram syndrome uhlobo 2?

Abantu abane-Wolfram syndrome uhlobo lwesibini baneempawu ezifana nezo zohlobo loku-1. Nangona kunjalo, banokufumana oku kulandelayo:

• Ukopha okungaqhelekanga.
• Izilonda zesisu.

Nangona kunjalo, abantu abanesifo sohlobo lwesibini badla ngokungafumani ngxaki ingako ebizwa ngokuba yi-diabetes insipidus kunye neengxaki zengqondo.

Yintoni ebangela iWolfram Syndrome?

Njengoko besikhe sathetha ngaphambili, oku kubangelwa zizinto zemfuza. Isizathu esiphambili kukufumana ilifa leenguqu ezithile kwi-genes (WFS1) okanye (WFS2 (CISD2) ukusuka kubazali ukuya kubantwana.

Indlela yokuxilonga esi sifo?

Enyanisweni, ukuxilonga iWolfram syndrome ngamanye amaxesha kunokuba nzima kancinci. Ngenxa yokuba oogqirha banokunyanga uphawu ngalunye ngokwahlukeneyo, basenokungaqondi kwangoko ukuba zonke ziyinxalenye yesifo esifanayo. Rhoqo, kuphela emva kokuba kuvele iimpawu ezininzi apho kuvela khona ukurhanelwa kokuba isenokuba yiWolfram syndrome.

Ukuba ugqirha ukrokrela oku, uya kucebisa uvavanyo lwemfuza.Olu vavanyo lunokuchonga ngokuchanekileyo ukuba kukho naziphi na iinguqu kwiijini (WFS1) kunye (WFS2 (CISD2). Oku kunokuqinisekisa ukuxilongwa.

Inyangwa njani iWolfram Syndrome?

Ngelishwa, okwangoku akukho nyango luqhelekileyo lokunyanga esi sifo ngokupheleleyo, ukunqanda ukuqhubela phambili kwaso, okanye ukusicothisa. Okwangoku, okwenziwayo kukulawula iimpawu ezivelayo. Umzekelo:

• Abantu abanesifo seswekile banikwa i-insulin ukulawula amanqanaba eswekile egazini labo.
• Izixhobo zokuncedisa ukuva zingasetyenziswa ngabo banengxaki yokuva.
• Ezinye iimpawu nazo ziyanyangwa ngokufanelekileyo.

Ngaba kukho naluphi na unyango olutsha oluphandwayo?

Ewe, ezi ziindaba ezimnandi! Abaphandi bayaqhubeka nokufumana unyango olutsha olunokuphucula umgangatho wobomi babantu abane-Wolfram syndrome. Nazi ezinye zeendlela zonyango ezifumana ingqalelo enkulu okwangoku:

• Amayeza anciphisa umonakalo kwiiseli obangelwa kukuphazamiseka komsebenzi weproteni.
• Unyango lwe-gene lulungisa ii-gene ezitshintshiweyo ze-(WFS1) kunye ne-(WFS2 (CISD2) okanye luzithathela indawo ngee-gene ezilungileyo.
• Unyango lokuvuselela lunyango oluphilisa izicwili ezonakeleyo okanye oludala izicwili ezintsha.

Ezinye zezi ndlela zonyango sele zikwizilingo zeklinikhi. Ezinye zisekwisigaba sophando. Thetha nogqirha wakho malunga nezi ndlela zonyango zintsha. Uya kukwazi ukukuxelela ukuba zilungele wena okanye umntwana wakho.

Ngaba iWolfram Syndrome ingathintelwa?

Ngelishwa, iimeko zemfuza ezifana neWolfram syndrome azinakuthintelwa.

Ingaba esi sifo siyabulala?

Kuthiwa abantu abane-Wolfram syndrome bane-prognosis embi ngokubanzi. Kolunye uphando lwezigulane ezingama-45, ixesha lokuphila kwabo laliphakathi kweminyaka engama-25 nama-49, kwaye ixesha lokuphila eliphakathi limalunga neminyaka engama-30. Kwiimeko ezininzi, unobangela wokufa yayikukuba buthathaka kancinci kancinci kwe-brainstem, inxalenye yengqondo elawula imisebenzi ebalulekileyo efana nokuphefumla kunye nokubetha kwentliziyo.

Nangona kunjalo, le meko iyaphucuka kancinci ngenxa yeendlela zokuxilonga eziphucukileyo, uphuculo lolawulo lweempawu, kunye nethemba lonyango olutsha.

Ufanele uthethe nini nogqirha malunga novavanyo lwemfuza?

Ukuba kukho umntu kusapho lwakho one-Wolfram syndrome, okanye okhe wanayo imbali yayo, kubalulekile ukuthetha nogqirha wakho malunga novavanyo lwemfuza. Uvavanyo olulula lwegazi okanye isampuli yamathe ingakuxelela oku:

• Ingakanani ingozi yakho yokuba nomntwana onesi sifo?
• Fumana ukuba umntwana wakho uneWolfram syndrome ngaphambi kokuba kuvele iimpawu.

Nangona okwangoku kungekho nyango lwe-Wolfram syndrome, uphando kunye nezilingo zeklinikhi zibonise ithemba lonyango olutsha. Ukuba wena okanye umntu kusapho lwakho une-Wolfram syndrome, buza ugqirha wakho ngezi zilingo zeklinikhi.

Ukuphila nokuxilongwa okungaqhelekanga njengeWolfram Syndrome kunokuba nzima kakhulu, kwaye kunokuba nzima kakhulu. Kodwa khumbula, awuwedwa. Cela ugqirha wakho akunike inkxaso, ulwazi, mhlawumbi akuncede uqhagamshelane nabanye abadlula kwinto efanayo. Olu hlobo lwenkxaso lunokuba luncedo olukhulu.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Wolfram Syndrome sisifo esingaqhelekanga nesintsonkothileyo esibangelwa yimfuza. Nangona kunjalo, kubalulekile ukusazi, ukuqaphela iimpawu kwangethuba, kunye nokufuna iingcebiso zonyango ezifanelekileyo.

• Lumka ngeempawu zokuqala: Funa ingcebiso kagqirha, ingakumbi ukuba umntwana unesifo seswekile (iDiabetes Mellitus) kunye neengxaki zokubona (i-Optic Atrophy) esemncinci.
• Ucebisi ngezofuzo lubalulekile: Ukuba kukho umntu kusapho lwakho onesi sifo, cinga ngocebisi ngezofuzo kunye novavanyo.
• Iimpawu zinokulawulwa: Nangona okwangoku kungekho nyango lupheleleyo, iimpawu zinokunyangwa kwaye umgangatho wobomi unokulawulwa ngandlela ithile.
• Yiba nethemba malunga nonyango olutsha: Uphando luyaqhubeka, ngoko ke singaba nethemba lonyango olungcono kwixesha elizayo.
• Awuwedwa: Kunokuba nzima ukuhlala uqinile engqondweni kwimeko efana nale. Nangona kunjalo, fumana uncedo koogqirha, kusapho, nakumaqela enkxaso.

Ndiyathemba ukuba olu lwazi luza kukunceda. Ukuba uneengxaki, ungalibali ukubonana nogqirha.

Isifo sikaWolfram, isifo semfuza, isifo seswekile, ukukhubazeka kokubona, ukukhubazeka kokuva, isifo semithambo-luvo, iDIDMOAD