Ngaba nawe ubonisa iimpawu zokwaluphala ngaphambi kwexesha? Makhe sithethe ngeWerner Syndrome!

Ngaba uziva ngathi ubonakala umdala kuneminyaka yakho? Nangona kuqhelekile ukuvakalelwa ngaloo ndlela ngamanye amaxesha, ukuguga ngaphambi kwexesha, okanye umzimba uguga ngokukhawuleza, kunokubangelwa yimeko engaqhelekanga yemfuza. Esinye sezifo ezinjalo yiWerner Syndrome. Makhe sithethe ngale nto ngokweenkcukacha namhlanje, kuba kubaluleke kakhulu ukuyiqonda.

Yintoni iWerner Syndrome?

Ngamafutshane, iWerner Syndrome sisifo esingaqhelekanga semfuza esibangela ukuba umzimba wakho uguge ngokukhawuleza kunokuba bekulindelwe. Abanye abantu bayibiza ngokuba yi-'adult progeria'. Iimpawu azibonakali de ube ngumntwana ofikisayo. Oko kuthetha ukuba uza kuqala ukuqaphela umahluko xa uyeka ukukhula ngokukhawuleza njengabahlobo bakho. Emva koko, kwiminyaka yakho yama-20, uza kuqala ukufumana iimpawu zokwaluphala - kwaye, ngokuhamba kwexesha, izifo eziza nokwaluphala.

Kodwa oku akupheleli nje ekugugeni kweenwele nokuwohloka kolusu. Ukwaluphala akupheleli nje ekutshintsheni inkangeleko. Abantu abaninzi abaneWerner Syndrome bafumana iingxaki ezisongela ubomi xa beneminyaka engama-40 nengama-50.

Zithini ezi mpawu?

Xa uneWerner Syndrome, iimpawu ziya zibonakala ngakumbi njengoko ukhula. Usenokuqala ukuqaphela iimpawu zokwaluphala kwangethuba kunezinye ezikwiminyaka yakho, xa uneminyaka engama-20. Nazi ezinye zazo:

Utshintsho kwinkangeleko

• Ukuphuka kweenwele kunye nokulahleka kweenwele: Oku akubandakanyi nje kuphela iinwele entloko, kodwa kunye namashiya kunye neenkophe.
• Ilizwi liba phezulu okanye litsho ngelizwi eliphantsi.
• Ukuncipha kwezicubu ze-adipose ezingaphantsi komzimba: Oku kunokubangela ukuba ulusu lubonakale lugobile.
• Ukuwohloka kwemisipha.
• Ukubola kwamazinyo ngaphambi kwexesha.
• Ubumnyama kwezinye iindawo zesikhumba (ukwanda kombala) okanye ukukhanya kwezinye iindawo (ukwanda kombala).
• Ubomvu besikhumba ngenxa yemithambo yegazi evulekileyo.
• Ukuqina okanye ukuqina kolusu: Oku kufana kancinci nesifo esibizwa ngokuba yi-scleroderma.
• Ubuso obuxineneyo nobukhathazekileyo.

Ezinye iingxaki zempilo ezivela ngaphakathi emzimbeni

NgeWerner Syndrome, awubonakali nje umdala. Umzimba wakho uguga ngokukhawuleza kunobudala bakho bokwenyani. Oku kuthetha ukuba usenokuba nezinye iingxaki zempilo ngaphambi kwexesha elilindelweyo. Ezi ziquka:

• Isifo seswekile sohlobo lwesibini: Enyanisweni, malunga nabantu abasi-7 kwabali-10 abaneWerner Syndrome baba nesifo seswekile sohlobo lwesibini xa beneminyaka engama-35 ubudala.
• I-Hypogonadism (ukungakwazi ukusebenza kwii-ovari okanye kumasende).
• Izilonda zesikhumba.
• I-Osteoporosis (ukuncitshiswa kwamathambo).
• I-atherosclerosis.
• IiCataracts okanye ukuwohloka kwe-macular.
• Intlungu yesifuba (i-angina).
• Imyocardial infarction.
• Ukusilela kwentliziyo `(ukusilela kwentliziyo)`.

Umngcipheko womhlaza

Abantu abaneWerner Syndrome basengozini enkulu yokuhlaselwa ziintlobo ezithile zomhlaza. Umzekelo:

• Umhlaza we-thyroid.
• I-Melanoma (umhlaza wolusu).
• I-Osteosarcoma (umhlaza wamathambo).
• I-sarcoma yezicubu ezithambileyo.

Yintoni ebangela iWerner Syndrome?

Esi sisifo semfuza . Oko kukuthi, sibangelwa kukuguquka kwezakhi zofuzo zethu. I-Werner Syndrome yenzeka kubantu abaneziphene ezimbini kwi-WRN gene. Ngokwesiqhelo, enye yezi zakhi zofuzo zimbini ineziphene ifunyanwa ngumama kwaye enye ifunyanwa ngutata.

Uyifumana njani le nto? (Ukuxilongwa)

Ugqirha wakho uza kukhangela iindlela ezithile zokuchonga iWerner Syndrome. Banokuyalela ezi mvavanyo:

• Uvavanyo lwemfuza: Jonga utshintsho kwimfuza olubangela iWerner Syndrome.
• Ii-X-reyi: Jonga utshintsho emathanjeni okanye kwiithumba.

Ngamanye amaxesha oogqirha banokuxilonga iWerner Syndrome beselula njenge-15 leminyaka ubudala. Nangona kunjalo, uxilongo ludla ngokwenziwa kwiminyaka yoo-1930 okanye yoo-1940. Oku kungenxa yokuba ezinye zeempawu ezithile zesifo zithatha ixesha elide ukuba zibonakale.

Zithini iindlela zonyango?

I-Werner Syndrome inyangwa ngokusekelwe kwiimpawu ezibonakalayo. Oku kuthetha ukuba unyango olunye alusebenzi kuwo wonke umntu. Iingcali ezininzi zingasebenzisana ukulungelelanisa isicwangciso sakho sonyango. Umzekelo:

• Iingcali ze-Endocrinologists (iingcali zeehomoni).
• Iingcali zamehlo ( iingcali zamehlo).
• Iingcali zamathambo (iingcali zamathambo namalungu).

Unyango olufumanayo lungabandakanya:

• Amayeza eswekile: Lawula amanqanaba eswekile egazini lakho.
• Iiglasi okanye iilensi zoqhagamshelwano: Lungisa iingxaki zokubona.
• Amayeza esifo sentliziyo:Nciphisa umngcipheko weengxaki ngokulawula i-atherosclerosis.
• Utyando: Ukuba kukho naziphi na izimila ezinomhlaza, zisuse.

Ngaba iWerner Syndrome ingathintelwa?

Ngenxa yokuba esi sisifo esibangelwa lufuzo, ngelishwa, iWerner Syndrome ayinakuthintelwa.

Nangona kunjalo, ukuba wena neqabane lakho nobabini ningabathwali bejini yale meko, kwaye nifuna nokuba nabantwana, ningathanda ukuqwalasela inkqubo ebizwa ngokuba luvavanyo lwezakhi zofuzo ngaphambi kokumfaka umntwana (i-PGT). I-PGT yindibaniselwano yokuchumisa i-in vitro (IVF) kunye novavanyo lwezakhi zofuzo. Oku kubandakanya ukuvavanya iimbumba ngaphambi kokuba zifakwe esibelekweni ukunciphisa amathuba okuba abantwana bafumane ezi ziphene zezakhi zofuzo. Nangona kunjalo, ezi ziinkqubo ezinzima ngakumbi, ngoko ke izigqibo kufuneka zenziwe kuphela ngokweengcebiso zonyango.

Yintoni enye ongathanda ukuyibuza ugqirha wakho?

Ukuba uneWerner Syndrome, kubalulekile ukubuza ugqirha wakho yonke imibuzo onayo. Umzekelo, ungabuza izinto ezifana nezi:

• Ingaba licebo elihle kum ukuba ndifumane uvavanyo lwemfuza lweWerner Syndrome?
• Ziziphi iindlela zonyango lweWerner Syndrome?
• Ndingenza ntoni ukunciphisa umngcipheko wokuba nomhlaza?
• Ziziphi iimvavanyo ekufuneka ndizithathe ukuze ndithintele iingxaki zeWerner Syndrome?
• Ngawaphi amathuba okuba abantwana bam bafumane iWerner Syndrome kum?
• Zithini amathuba okuba ndibe nomnye umntwana oneWerner Syndrome?

Ziziphi ezinye iimeko ezineempawu ezifanayo?

Ukongeza kwiWerner Syndrome, kukho nezinye iimeko ezininzi ezibangela ukuba umntu abe mfutshane kwaye aguge ngaphambi kwexesha. Ezi ziquka:

• Isifo seDe Barsy
• Isifo seGottron
• I-Hutchinson-Gilford syndrome (lolu hlobo lweProgeria oluchaphazela abantwana abancinci)
• isifo sikaMulvihill-Smith
• Isifo sikaRothmund-Thomson
• Isifo seStorm

Zonke ezi ziimeko ezingaqhelekanga, ngoko ke kubaluleke kakhulu ukufumana uxilongo oluchanekileyo.

Imbali encinci malunga neWerner Syndrome kwaye ixhaphake kangakanani?

I-Werner Syndrome yaqala ukufunyanwa ekuqaleni kweminyaka yoo-1900 ngugqirha ogama lingu-Otto Werner. Iimpawu ezimbini awazibona okokuqala kwizigulane eziselula yayizii-cataracts kunye namabala amnyama akhanyayo eluswini.

Le yimeko engaqhelekanga kakhulu. Ukususela oko ingxelo yokuqala yesi sifo yapapashwa ngo-1904, zimalunga nama-800 kuphela iimeko ezibikwe kwiijenali zonyango.

E-United States, iingcali ziqikelela ukuba malunga nomntu omnye kwabangama-200,000 unokuba neWerner Syndrome. Kwihlabathi liphela, ukwenzeka kwayo kuphantsi kakhulu kunomntu omnye kwabasisigidi.

Nangona kunjalo, ixhaphake kakhulu eJapan nakwingingqi yaseSardinia e-Itali. Apho, malunga nomntu omnye kwabangama-30,000 okanye abangama-50,000 unale meko. Isizathu soku kukuba abantu abaninzi kwezo ndawo bazuze utshintsho lwemfuza olwenzeka kwizizukulwana ezadlulayo.

Ukufumanisa ukuba wena okanye umntu omthandayo uneWerner Syndrome kunokuba nzima. Kunokuba yinto ecaphukisayo kuba akukho nyango. Nangona kunjalo, unyango lunokunciphisa umngcipheko weengxaki ezisongela ubomi.

Ekugqibeleni, umyalezo wokubuyela ekhaya

I-Werner Syndrome yimeko enzima ngokwenene, kodwa khumbula, awuwedwa.

• Fumana unyango olufanelekileyo kunye neengcebiso: Oku kuya kukunceda ukulawula iimpawu zakho kwaye kuphucule umgangatho wobomi bakho.
• Landela indlela yokuphila enempilo: Lala ngokwaneleyo, yitya ukutya okunesondlo, sebenzisa isithambisi selanga xa uphuma elangeni, kwaye uzame ukunciphisa uxinzelelo. Ezi zinto ziya kukunceda uhlale usempilweni.
• Funa inkxaso: Buza iqela lakho lezonyango malunga namaqela enkxaso. Usenokuba awuziva uxinezelekile kakhulu okwangoku, kodwa gcina olo lwazi lukufutshane. Lunokuba luncedo kwixesha elizayo.

Ukuphila nesifo esingaqhelekanga esifana nesi akulula. Kodwa ngolwazi olufanelekileyo, inkxaso, kunye nesimo sengqondo esihle, uya kufumana amandla okuqhuba olu hambo.

I- Werner syndrome, izifo zemfuza, ukwaluphala ngaphambi kwexesha, i-progeria yabantu abadala, i-WRN gene, iingxaki zempilo, umngcipheko womhlaza