Ingabe nawe ubonisa izimpawu zokuguga ngaphambi kwesikhathi? Ake sixoxe nge-Werner Syndrome!

Ingabe uzizwa sengathi ubukeka umdala kuneminyaka yakho? Nakuba kujwayelekile ukuzizwa ngaleyo ndlela ngezinye izikhathi, ukuguga ngaphambi kwesikhathi, noma umzimba uguga ngokushesha, empeleni kungabangelwa yisimo esingavamile sofuzo. Esinye sezimo ezinjalo yi-Werner Syndrome. Ake sixoxe ngalokhu ngemininingwane ethe xaxa namuhla, ngoba kubaluleke kakhulu ukukuqaphela.

Iyini i-Werner Syndrome?

Kalula nje, i-Werner Syndrome iyisifo esingavamile sofuzo esibangela ukuba umzimba wakho uguge ngokushesha kakhulu kunalokho obekulindelwe. Abanye abantu basibiza ngokuthi 'i-adult progeria'. Izimpawu ngokuvamile azibonakali uze ufike ekuthombeni. Lokho kusho ukuthi uzoqala ukuqaphela umehluko uma uyeka ukukhula ngokushesha njengabangane bakho. Ngemuva kwalokho, eminyakeni yakho yama-20, uzoqala ukuzwa izimpawu zokuguga - futhi, ngokuhamba kwesikhathi, izifo ezihambisana nokuguga.

Kodwa lokhu akukhona nje kuphela ngokuguguleka kwezinwele kanye nokuwohloka kwesikhumba. Ukuguga akukhona nje ukushintsha ukubukeka. Abantu abaningi abane-Werner Syndrome baba nezinkinga ezisongela ukuphila lapho beneminyaka engu-40 no-50.

Ziyini lezi zimpawu?

Uma une-Werner Syndrome, izimpawu ziya ngokuya zibonakala njengoba ukhula. Ungase uqale ukuqaphela izimpawu zokuguga ngaphambi kwabanye abaneminyaka yakho, abaseminyakeni yakho yama-20. Nazi ezinye zazo:

Izinguquko ekubukekeni

• Ukumpunga kwezinwele nokulahlekelwa izinwele: Lokhu akubandakanyi nje izinwele ekhanda, kodwa namashiya nezinkophe.
• Izwi liba phezulu noma lihoshozele.
• Ukuncipha kwezicubu zamafutha ezingaphansi kwesikhumba: Lokhu kungabangela ukuthi isikhumba sibonakale sigobile.
• Ukuwohloka kwemisipha.
• Ukubola kwamazinyo ngaphambi kwesikhathi.
• Ukufiphala kwesikhumba kwezinye izindawo (ukwanda kombala) noma ukukhanya kwezinye izindawo (ukwanda kombala).
• Ukubomvu kwesikhumba ngenxa yokwanda kwemithambo yegazi.
• Ukuqina kwesikhumba noma ukuqina kwaso: Lokhu kufana kancane nesimo esibizwa ngokuthi i-scleroderma.
• Ubuso obucindezelekile nobucindezelekile.

Ezinye izinkinga zempilo ezivela ngaphakathi emzimbeni

Nge-Werner Syndrome, awubukeki nje umdala. Umzimba wakho uguga ngokushesha kunobudala bakho bangempela. Lokhu kusho ukuthi ungase ube nezinye izinkinga zempilo ngaphambi kwesikhathi esilindelekile. Lezi zifaka:

• Isifo sikashukela sohlobo 2: Eqinisweni, cishe abantu abayi-7 kwabayi-10 abane-Werner Syndrome baba nesifo sikashukela sohlobo 2 lapho beneminyaka engu-35.
• I-Hypogonadism (ukungakwazi ukusebenza kahle kuma-ovari noma emasendeni).
• Izilonda zesikhumba.
• I-Osteoporosis (ukuncipha kwamathambo).
• I-atherosclerosis.
• Ukonakala kwesikhumba noma ukuwohloka kwe-macular.
• Ubuhlungu besifuba (i-angina).
• Ukuhlaselwa yinhliziyo.
• Ukwehluleka kwenhliziyo `(ukwehluleka kwenhliziyo)`.

Ingozi yomdlavuza

Abantu abane-Werner Syndrome basengozini enkulu yokuthola izinhlobo ezithile zomdlavuza. Isibonelo:

• Umdlavuza we-thyroid.
• I-Melanoma (umdlavuza wesikhumba).
• I-Osteosarcoma (umdlavuza wamathambo).
• I-sarcoma yezicubu ezithambile.

Yini ebangela i-Werner Syndrome?

Lokhu kuyisifo sofuzo . Okusho ukuthi, sibangelwa ukuguquka kwezakhi zofuzo zethu. I-Werner Syndrome yenzeka kubantu abanezinkinga ezimbili ku-WRN gene. Ngokuvamile, enye yalezi zakhi zofuzo ezimbili ezinephutha izuzwa kumama kanti enye izuzwe kubaba.

Ukuthola kanjani lokhu? (Ukuxilongwa)

Udokotela wakho uzobheka izindlela ezithile zokuxilonga i-Werner Syndrome. Bangase futhi ba-ode lezi zivivinyo:

• Ukuhlolwa kwezakhi zofuzo: Hlola izinguquko ku-gene ezibangela i-Werner Syndrome.
• Ama-X-ray: Hlola izinguquko emathanjeni noma izimila.

Odokotela ngezinye izikhathi bangathola i-Werner Syndrome besebancane njengeminyaka eyi-15. Kodwa-ke, ukuxilongwa kuvame ukwenziwa ngeminyaka yama-30 noma yama-40. Lokhu kungenxa yokuthi ezinye zezimpawu ezithile zesifo zithatha isikhathi eside kangako ukuvela.

Yiziphi izindlela zokwelapha?

I-Werner Syndrome yelashwa ngokusekelwe ezimpawini ezivelayo. Lokhu kusho ukuthi ukwelashwa okukodwa akusebenzi kuwo wonke umuntu. Ochwepheshe abaningana bangasebenza ndawonye ukuhlanganisa uhlelo lwakho lokwelashwa. Isibonelo:

• Ochwepheshe be-Endocrinologists (ochwepheshe bama-hormone).
• Odokotela bamehlo ( ochwepheshe bamehlo).
• Odokotela bamathambo (ochwepheshe bamathambo namalunga).

Ukwelashwa okutholayo kungafaka:

• Imithi yesifo sikashukela: Lawula amazinga kashukela egazini lakho.
• Izibuko noma amalensi okuxhumana: Lungisa izinkinga zokubona.
• Imithi yesifo senhliziyo:Nciphisa ingozi yezinkinga ngokulawula i-atherosclerosis.
• Ukuhlinzwa: Uma kukhona izimila ezinomdlavuza, zisuse.

Ingabe i-Werner Syndrome ingavinjelwa?

Ngenxa yokuthi lesi yisimo sofuzo, ngeshwa, i-Werner Syndrome ayinakuvinjelwa.

Kodwa-ke, uma wena nomlingani wakho nobabili ningabathwali besakhi sofuzo salesi simo, futhi nifuna nokuba nezingane, ungase uthande ukucabangela inqubo ebizwa ngokuthi ukuhlolwa kwezakhi zofuzo ngaphambi kokutshalwa kwembewu (i-PGT). I-PGT iyinhlanganisela yokuhlolwa kwezakhi zofuzo kanye nokufakwa kwe-in vitro fertilization (IVF). Lokhu kuhilela ukuhlola ama-embryo ngaphambi kokuba atshalwe esibelethweni ukuze kuncishiswe amathuba okuba izingane zizuze lezi ziphambeko zezakhi zofuzo. Kodwa-ke, lezi yizinqubo eziyinkimbinkimbi, ngakho-ke izinqumo kufanele zenziwe kuphela ngeseluleko sikadokotela.

Yini enye ongathanda ukuyibuza udokotela wakho?

Uma une-Werner Syndrome, kubalulekile ukubuza udokotela wakho yonke imibuzo onayo. Isibonelo, ungase ubuze izinto ezinjengalezi:

• Ingabe kuwumqondo omuhle kimi ukuthola ukuhlolwa kofuzo kwe-Werner Syndrome?
• Yiziphi izindlela zokwelapha i-Werner Syndrome?
• Yini okufanele ngiyenze ukuze nginciphise ingozi yami yokuba nomdlavuza?
• Yikuphi ukuhlolwa okufanele ngikwenze ukuze ngivimbele izinkinga ze-Werner Syndrome?
• Angakanani amathuba okuba izingane zami zizuze i-Werner Syndrome kimi?
• Angakanani amathuba okuba ngibe nomunye umntwana one-Werner Syndrome?

Yiziphi ezinye izimo ezinezimpawu ezifanayo?

Ngaphezu kwe-Werner Syndrome, kunezinye izimo eziningana ezibangela ukufiphala komzimba kanye nokuguga ngaphambi kwesikhathi. Lezi zifo zifaka:

• I-De Barsy syndrome
• I-Gottron syndrome
• I-Hutchinson-Gilford syndrome (lolu uhlobo lwe-Progeria oluthinta izingane ezincane)
• I-Mulvihill-Smith syndrome
• I-Rothmund-Thomson syndrome
• I-Storm syndrome

Zonke lezi yizimo ezingavamile, ngakho-ke kubaluleke kakhulu ukuthola ukuxilongwa okunembile.

Umlando omncane nge-Werner Syndrome nokuthi ivame kangakanani?

I-Werner Syndrome yaqala ukutholwa ekuqaleni kwawo-1900 ngudokotela ogama lakhe lingu-Otto Werner. Izimpawu ezimbili azibona okokuqala ezigulini ezisencane kwakuyi-cataracts kanye namabala amnyama acwebezelayo esikhumbeni.

Lesi yisimo esingavamile kakhulu. Selokhu kwanyatheliswa umbiko wokuqala walesi sifo ngo-1904, amacala angaba ngu-800 kuphela abikwe emaphephandabeni ezokwelapha.

E-United States, ochwepheshe balinganisela ukuthi cishe umuntu oyedwa kwabangu-200,000 angaba ne-Werner Syndrome. Emhlabeni wonke, izinga lokutheleleka liphansi njengomuntu oyedwa kwabayisigidi.

Kodwa-ke, kuvame kakhulu eJapane nasesifundeni saseSardinia e-Italy. Lapho, cishe umuntu oyedwa kwabangu-30,000 noma abangu-50,000 unalesi simo. Isizathu salokhu ukuthi abantu abaningi kulezo zindawo bazuze uguquko lwezakhi zofuzo olwenzeka ezizukulwaneni ezedlule.

Ukuthola ukuthi wena noma othandekayo wakho une-Werner Syndrome kungaba nzima. Kungaba yinto ekhungathekisayo ngoba ayikho ikhambi. Kodwa-ke, ukwelashwa kunganciphisa ingozi yezinkinga ezisongela ukuphila.

Ekugcineni, umyalezo okufanele uthathwe ekhaya

I-Werner Syndrome iyisimo esiyinselele ngempela, kodwa khumbula, awuwedwa.

• Thola ukwelashwa okufanele kanye neseluleko: Lokhu kuzokusiza ukuphatha izimpawu zakho futhi kuthuthukise ikhwalithi yempilo yakho.
• Landela indlela yokuphila enempilo: Lala ngokwanele, yidla ukudla okunomsoco, sebenzisa isithako sokuvikela ilanga uma uphuma elangeni, bese uzama ukunciphisa ukucindezeleka. Lezi zinto zizokusiza ukuthi uhlale uphilile.
• Funa ukwesekwa: Buza ithimba lakho lezokwelapha ngamaqembu okusekela. Ungase ungazizwa ucindezelekile kakhulu njengamanje, kodwa gcina lolo lwazi luseduze. Lungaba usizo esikhathini esizayo.

Ukuphila nesifo esingavamile njengalesi akulula. Kodwa ngolwazi olufanele, ukwesekwa, kanye nesimo sengqondo esihle, uzothola amandla okuhamba kulolu hambo.

I- Werner syndrome, izifo zofuzo, ukuguga ngaphambi kwesikhathi, ukukhula kwabantu abadala, i-WRN gene, izinkinga zempilo, ingozi yomdlavuza