Iyini i-Wolfram Syndrome? Ake sixoxe ngayo!

Wake wezwa nge-Wolfram Syndrome? Igama lingase libe lisha kuwe. Kuyisifo esingavamile esithinta abantu abambalwa kakhulu, kodwa singaba sibi kakhulu. Singalimaza ubuchopho bakho nezinye izicubu emzimbeni wakho. Kubalulekile ukuqaphela lesi simo, ikakhulukazi njengoba izimpawu zingaqala ukuvela ebuntwaneni.

Iyini ngempela i-Wolfram Syndrome?

Kalula nje, i-Wolfram syndrome iyisimo sofuzo esidluliselwa kusuka esizukulwaneni kuya kwesinye. Kuyisifo esiwohloka kobuchopho, okusho ukuthi silimaza ubuchopho kanye nesistimu yezinzwa ngokuhamba kwesikhathi. Lokhu kubangela izimpawu ukuthi zikhule kancane kancane, ngokuvamile ziqala ebuntwaneni ziqhubeke zize zibe ngabantu abadala. Isifo sikashukela nezinkinga zokubona zivame ukuba izimpawu zokuqala zalesi sifo ngaphambi kweminyaka engu-15. Ngokuhamba kwesikhathi, ukusebenza kobuchopho kungaphazamiseka futhi ngezinye izikhathi kube yingozi empilweni.

Ingabe zikhona izinhlobo ze-Wolfram Syndrome?

Yebo, odokotela bathole izinhlobo ezimbili zezakhi zofuzo ezihlobene nalesi sifo. Uyazi, izakhi zofuzo ziyizingcezu ezincane ze-DNA eziqukethe lonke ulwazi olusemizimbeni yethu. Abantu abane-Wolfram syndrome banezinguquko ezithile kulezi zakhi zofuzo, esizibiza ngokuthi izinguquko. Ngakho-ke, zihlukaniswa ngokwezakhi zofuzo ezithintekile:

• Uhlobo 1 lwesifo iWolfram: Lokhu kubangelwa ukuguquka kwezakhi zofuzo okubizwa ngokuthi ``(i-WFS1 gene)``.
• Uhlobo 2 lwesifo i-Wolfram: Lokhu kubangelwa ukuguquka kwezakhi zofuzo okubizwa ngokuthi `(i-WFS2 (CISD2) gene)`.

Kungase kube nomehluko omncane ezimpawini zalezi zinhlobo ezimbili.

Lesi sifo sizuzwa kanjani njengefa?

Ngokuvamile, ukuze ingane ibe ne-Wolfram syndrome, bobabili abazali kumele babe ngabathwali bokuguqulwa kwezakhi zofuzo okubangela lesi sifo. Lokhu kusho ukuthi ingane kumele izuze ifa lezakhi zofuzo ezishintshiwe kubazali bobabili. Kodwa-ke, akuvamile kakhulu ukuthi i-Wolfram syndrome uhlobo 1 izuzwe kumzali oyedwa kuphela.

Ivame kangakanani i-Wolfram Syndrome?

Ngenxa yokuthi kuyisimo esingavamile, kunzima ukusho ukuthi bangaki abantu abanaso. Ucwaningo olulodwa luthole ukuthi e-United Kingdom, lesi simo sithinta cishe umuntu oyedwa kwabangu-770,000 . Izifundo ezivela kwamanye amazwe zibonise ukuthi lesi simo sivame kakhulu kwezinye izindawo, ikakhulukazi emiphakathini lapho izihlobo eziseduze zishada khona futhi zibe nezingane.

Isifo sohlobo lwesibili seWolfram syndrome asivamile neze. Sibikwe emindenini embalwa kuphela emhlabeni jikelele.

Yiziphi izimpawu eziyinhloko zesifo sohlobo 1 seWolfram?

Akuwona wonke umuntu one-Wolfram syndrome uhlobo 1 ozoba nezimpawu ezifanayo, futhi zingahluka kumuntu nomuntu. Kodwa-ke, kaningi, lezi zimpawu zivela ngokulandelana okuthile, ngesikhathi sobuntwana kanye nokuthomba. Nansi indlela ejwayelekile, kanye nobudala obujwayelekile lapho izimpawu zivela khona:

• Isifo Sikashukela - Ngokuvamile lapho sineminyaka engu-6: Isifo Sikashukela Isifo Sikashukela siyinkinga ngekhono lomzimba lokumunca ushukela, noma i-glucose, ekudleni esikudlayo. Ngokuvamile, ama-pancreas ethu akhiqiza i-hormone ebizwa ngokuthi i-insulin. Le insulin isiza amangqamuzana ethu ukuthi amunce ushukela egazini. Ngakho-ke, uma i-insulin ingakhiqizwa kahle, noma uma amangqamuzana engaphenduli kahle ku-insulin ekhiqizwayo, amazinga kashukela egazini angaba phezulu kakhulu. Isifo sikashukela esihlotshaniswa ne-Wolfram syndrome sifana nesifo sikashukela sohlobo 1, kodwa akusona isifo sokuzivikela komzimba. Izimpawu zesifo sikashukela zifaka phakathi ukuchama njalo, ukoma ngokweqile, ukubona okufiphele, kanye nokwehla kwesisindo okungachazeki .

• I-Optic Atrophy - Ngokuvamile kwenzeka cishe eminyakeni eyi-11: Lokhu kuwukuwohloka kancane kancane kwe-optic nerve, ethwala imiyalezo esuka emehlweni iye ebuchosheni. Lokhu kubizwa nangokuthi i-Optic Atrophy. Izimpawu zingase zihlanganise ukubona okufiphele, ukulahlekelwa ukucaca, ukulahlekelwa umbono wombala, noma ukulahlekelwa umbono ongaphandle . Isibonelo, izinhlamvu ezisephephandabeni zingase zingasacaci njengoba zazinjalo ngaphambili, noma ingane ingase ingasakwazi ukubona ibhodi elimnyama esikoleni.

• Ukulahlekelwa ukuzwa kwe-sensorineural - Ngokuvamile kwenzeka uma umuntu eneminyaka engu-13: Lokhu ukulahlekelwa ukuzwa okubangelwa ukulimala kwezingxenye ezibucayi zendlebe yangaphakathi. Lokhu kubizwa ngokuthi ukulahlekelwa ukuzwa kwe-sensorineural. Lokhu kulahlekelwa ukuzwa kungaba kubi kakhulu njengoba umuntu ekhula, futhi kwezinye izimo , kungaholela ngisho nasekubeni yizithulu ngokuphelele. Kufanele uvule i-TV ukuze uzwe, noma kufanele ubuze ukuthi "Usanda kuthini?" uma othile ekhuluma.

• Isifo Sikashukela I-Insipidus - Ngokuvamile lapho umuntu eneminyaka engu-14: Akusona yini lesi isifo sikashukela '(Isifo Sikashukela)' okukhulunywe ngaso ngenhla? Lokhu kubizwa ngokuthi '(Isifo Sikashukela Insipidus)'. Okwenzekayo kulokhu ukuthi i-hormone '(i-antidiuretic hormone)' elawula inani lamanzi emchameni wethu ayikhiqizwa kahle, noma umzimba awusabeli kahle kuwo. Lokhu kubangela ukuthi kukhishwe umchamo omningi, okufana namanzi amaningi. Ngenxa yalokhu kuchama ngokweqile, ukuphelelwa amanzi emzimbeni, ukungalingani kwama-electrolyte, ubuthakathaka, umlomo owomile, kanye nokuqunjelwa kungenzeka.

I-Wolfram syndrome inegama elidala, elithi ``(DIDMOAD)``. Yakhiwa ngokuhlanganisa izinhlamvu zokuqala zalezi zimpawu eziyinhloko:

* Isifo sikashukela i-Insipidus (DI) - Isifo sohudo

* Isifo Sikashukela ( DM) - Isifo Sikashukela

* I-Optic Atrophy (OA) - Ukuphazamiseka kokubona

* Ukungezwa (D) - Ukukhubazeka kokuzwa/ukungezwa

Yiziphi ezinye izimpawu zesifo sohlobo 1 seWolfram?

Ngaphezu kwalezo zimpawu ezine eziyinhloko, kungase kuvele ezinye izimpawu. Kodwa lezi aziveli kuwo wonke umuntu.

• Izinkinga zama-hormone: I-Hypopituitarism, i-hypogonadism, ukubambezeleka kokukhula, kanye nokuqala kokuya esikhathini kwamantombazane.
• Izimpawu ezihlobene nohlelo lwezinzwa: ukungazinzile kokuhamba nokunyakaza (i-ataxia), ukulahlekelwa yinkumbulo nekhono lokucabanga (i-dementia), ikhanda elibuhlungu, ukuyeka ukuphefumula isikhashana ngesikhathi sokulala (i-central sleep apnea), ukuxhuzula (i-epilepsy), kanye nokulahlekelwa ukunambitha nephunga.
• Izinkinga zengqondo: ukucindezeleka, ukukhathazeka, ukuhlaselwa uvalo, ukushintshashintsha kwemizwelo, kanye nokuziphatha okunobudlova ngezinye izikhathi.
• Izinkinga zesistimu yomchamo: Ukutheleleka njalo kwendlela yomchamo, ukungakwazi ukuzibamba komchamo, kanye nokungapheleli kokukhipha isinye.

Ziyini izimpawu zesifo sohlobo 2 seWolfram?

Abantu abane-Wolfram syndrome uhlobo 2 banezimpawu ezifana neze-type 1. Kodwa-ke, bangase babe nalokhu okulandelayo:

• Ukopha okungavamile.
• Izilonda zesisu.

Kodwa-ke, abantu abanesifo sohlobo lwesibili bavame ukuba nezinkinga ezimbalwa ezibizwa ngokuthi i-diabetes insipidus kanye nezinkinga zengqondo.

Yini ebangela i-Wolfram Syndrome?

Njengoba sesixoxile ngaphambili, lokhu kubangelwa izici zofuzo. Imbangela eyinhloko ukuzuza ifa lokuguquka okuthile kuma-gene `(WFS1)` noma `(WFS2 (CISD2)` kusuka kubazali kuya ezinganeni.

Ungasithola kanjani lesi sifo?

Eqinisweni, ukuxilonga i-Wolfram syndrome ngezinye izikhathi kungaba nzima kancane. Ngenxa yokuthi odokotela bangase baphathe uphawu ngalunye ngokwehlukana, bangase bangaqapheli ngokushesha ukuthi zonke ziyingxenye yesifo esifanayo. Ngokuvamile, kuba ngemva kokuvela kwezimpawu eziningana lapho kuvela khona ukusola ukuthi kungaba yi-Wolfram syndrome.

Uma udokotela esola lokhu, uzoncoma ukuhlolwa kofuzo.Lokhu kuhlolwa kungabona ngokunembile ukuthi kukhona yini izinguquko ezakhiweni zofuzo `(WFS1)` kanye `(WFS2 (CISD2)`. Lokhu kungaqinisekisa ukuxilongwa.

Iphathwa kanjani i-Wolfram Syndrome?

Ngeshwa, okwamanje akukho ukwelashwa okujwayelekile kokwelapha lesi sifo ngokuphelele, ukuvimba ukuqhubeka kwalesi sifo, noma ukusenza sihambe kancane. Okwamanje, okwenziwayo nje ukulawula izimpawu ezivelayo. Isibonelo:

• Abantu abanesifo sikashukela banikezwa i-insulin ukulawula amazinga kashukela egazini labo.
• Izinsiza-kuzwa zingasetshenziswa yilabo abanenkinga yokuzwa.
• Ezinye izimpawu nazo ziyaphathwa ngendlela efanele.

Ingabe kukhona ukwelashwa okusha okucwaningwayo?

Yebo, lezi yizindaba ezinhle! Abacwaningi bayaqhubeka nokuthola izindlela ezintsha zokwelapha ezingathuthukisa ikhwalithi yokuphila kwabantu abane-Wolfram syndrome. Nazi ezinye zezindlela zokwelapha ezithola ukunakwa okukhulu okwamanje:

• Imithi enciphisa umonakalo kumaseli obangelwa ukuphazamiseka komsebenzi wamaprotheni.
• Ukwelashwa kwezakhi zofuzo kulungisa izakhi zofuzo ezishintshiwe ze-`(WFS1)` kanye ne-`(WFS2 (CISD2)` noma kuzithathela indawo ngezakhi zofuzo ezinhle.
• Ukwelashwa okuvuselelayo kuyindlela yokwelapha izicubu ezonakele noma edala izicubu ezintsha.

Ezinye zalezi zindlela zokwelapha sezivele zisezivivinyweni zezokwelapha. Ezinye zisesesigabeni socwaningo. Khuluma nodokotela wakho ngalezi zindlela zokwelapha ezintsha. Uzokwazi ukukutshela ukuthi zikulungele yini wena noma ingane yakho.

Ingabe i-Wolfram Syndrome ingavinjelwa?

Ngeshwa, izimo zofuzo ezifana ne-Wolfram syndrome azinakuvinjelwa.

Ingabe lesi sifo siyabulala?

Kuthiwa abantu abane-Wolfram syndrome banombono ongemuhle. Kokunye ukuhlola kweziguli ezingu-45, isikhathi sokuphila kwabo sasiphakathi kweminyaka engu-25 nengu-49, kanti isilinganiso sokuphila kwabo sasiyiminyaka engaba ngu-30. Ezimweni eziningi, imbangela yokufa kwakuwukuba buthaka kancane kancane kwe-brainstem, ingxenye yobuchopho elawula imisebenzi ebalulekile njengokuphefumula nokushaya kwenhliziyo.

Kodwa-ke, lesi simo siyathuthuka kancane ngenxa yezindlela zokuxilonga ezithuthukisiwe, ukuthuthuka ekuphathweni kwezimpawu, kanye nethemba lokwelashwa okusha.

Kufanele ukhulume nini nodokotela mayelana nokuhlolwa kofuzo?

Uma othile emndenini wakho ene-Wolfram syndrome, noma enomlando wayo, kubalulekile ukukhuluma nodokotela wakho mayelana nokuhlolwa kofuzo. Ukuhlolwa kwegazi okulula noma isampula yamathe kungakutshela ukuthi:

• Iyini ingozi yakho yokuba nengane enalesi sifo?
• Thola ukuthi ingane yakho ine-Wolfram syndrome ngaphambi kokuba kuvele izimpawu.

Nakuba okwamanje kungekho ukwelashwa kwe-Wolfram syndrome, ucwaningo kanye nezivivinyo zemitholampilo zibonise ithemba lokwelashwa okusha. Uma wena noma othile emndenini wakho ene-Wolfram syndrome, buza udokotela wakho ngalezi zivivinyo zemitholampilo.

Ukuphila nokuxilongwa okungavamile njengeWolfram Syndrome kungaba nzima kakhulu, futhi kungaba nzima kakhulu. Kodwa khumbula, awuwedwa neze. Cela udokotela wakho akusize, akunike ulwazi, futhi mhlawumbe akusize uxhumane nabanye ababhekene nesimo esifanayo. Lolu hlobo lokusekelwa lungaba usizo olukhulu.

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Wolfram Syndrome iyisifo esingavamile nesiyinkimbinkimbi esibangelwa izakhi zofuzo. Kodwa-ke, kubalulekile ukuqaphela, ukuqaphela izimpawu kusenesikhathi, nokufuna iseluleko sezokwelapha esifanele.

• Qaphela izimpawu zokuqala: Funa iseluleko sikadokotela, ikakhulukazi uma ingane iba nesifo sikashukela (i-Diabetes Mellitus) kanye nezinkinga zokubona (i-Optic Atrophy) isencane.
• Ukwelulekwa Ngezakhi Zofuzo Kubalulekile: Uma othile emndenini wakho enalesi sifo, cabanga ngokwelulekwa nokuhlolwa kwezakhi zofuzo.
• Izimpawu zingalawulwa: Nakuba okwamanje kungekho ukwelashwa okuphelele, izimpawu zingelashwa futhi ikhwalithi yokuphila ingalawulwa ngezinga elithile.
• Yiba nethemba ngemithi emisha yokwelapha: Ucwaningo luyaqhubeka, ukuze sibe nethemba lokwelashwa okungcono esikhathini esizayo.
• Awuwedwa: Kungaba nzima ukuhlala uqinile engqondweni esimweni esinjengalesi. Kodwa-ke, thola usizo kodokotela, emndenini, kanye namaqembu okusekelana.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Uma unenkinga, ungakhohlwa ukubonana nodokotela.

I- Wolfram Syndrome, isifo sofuzo, isifo sikashukela, ukukhubazeka kokubona, ukukhubazeka kokuzwa, isifo sezinzwa, i-DIDMOAD