Njengomama notata, sonke sibukela umntwana wethu ekhula imihla ngemihla. Kodwa, khawucinge... kuthekani ukuba umntwana ukhula ngesantya esingenakucingelwa, kungekhona ngendlela eqhelekileyo? Kunzima kakhulu ukuyicinga. Namhlanje sithetha ngesifo esingaqhelekanga kakhulu, kodwa esibaluleke kakhulu ekufuneka siqaphele. Esi sibizwa ngokuba yiProgeria.
Yintoni kanye kanye iProgeria?
Ngamafutshane, iProgeria sisifo esingaqhelekanga kakhulu esibangela ukuba imizimba yabantwana iguge ngokukhawuleza. Umntwana onesi sifo ubonakala njengomntwana ophilileyo xa ezalwa. Nangona kunjalo, kunyaka wokuqala okanye emibini yobomi, baqala ukubonisa iimpawu zokuguga ngokukhawuleza. Isantya sabo sokukhula siyehla kakhulu, kwaye batyeba kancinci kakhulu.
Kodwa eyona nto ibalulekileyo kukuba, akukho kungabikho kobukrelekrele kwaba bantwana. Bakrelekrele kakhulu. Ingxaki ikukutshintsha kwemizimba okwenzeka ngenxa yale nkqubo yokwaluphala ngokukhawuleza emzimbeni.
Igama elithi "progeria" livela kwigama lesiGrike elithi "geras" elithetha "ukwaluphala." Uhlobo oluphambili lwesi sifo lubizwa ngokuba yiHutchinson-Gilford progeria syndrome (HGPS).
Le yimeko ebuhlungu kakhulu, kuba akukho nyango lweProgeria. Umyinge wobomi baba bantwana umalunga neminyaka eli-14.5. Nangona kunjalo, abanye abantwana baphila befikelela kwiminyaka yabo engama-20. Eyona nto ibangela ukufa kwaba bantwana kukuhlaselwa yintliziyo okanye isifo sohlangothi . Isizathu soku kukuba i-atherosclerosis , isifo esibangela ukuba iindonga zemithambo yegazi zijiye, sidla ngokukhula kubantu abadala, kwaba bantwana besebancinci kakhulu.
Ngubani ofumana esi sifo? Sixhaphake kangakanani?
I-Progeria yimeko yemfuza enokuchaphazela nabani na. Kodwa ayilofuzo . Oko kukuthi, ayizuzwa kubazali. Idla ngokubangelwa kukuguquka kwemfuza okungaqhelekanga. Oko kukuthi, utshintsho olungacwangciswanga olwenzeka kwisidoda ngaphambi kokuba sikhulelwe.
Esi sifo sinqabile kangangokuba ngumntwana omnye kuphela kwizigidi ezine ezizelweyo kwihlabathi liphela ochaphazeleka sesi sifo. Okwangoku, kukho abantwana abamalunga nama-400 kunye nabantu abaselula abaphila neProgeria kwihlabathi liphela.
Zithini iimpawu zeProgeria?
Iimpawu zeProgeria ziyafana nezokwaluphala okuqhelekileyo, kodwa zibonakala zisencinci kakhulu. Ezi mpawu zinokubonakala kwiminyaka emibini yokuqala yobomi. Masizihlalutye ezi mpawu.
| Uhlobo oluneempawu | Izinto onokuzibona |
|---|---|
| Iimpawu eziqhelekileyo ezibonakala kwizigaba zokuqala | |
| Ukulibaziseka kokukhula | Ukuphakama komntwana kunye nokunyuka kobunzima bakhe kuphantsi kakhulu. |
| Ukushwabana kolusu | Ulusu luyajika lube nemibimbi, njengolomntu omdala. |
| Ukulahleka kweenwele | Amashiya, iinkophe, neenwele ziyawa, nto leyo ekhokelela ekubeni nempandla. |
| Ukuqina kwamalungu | Ukuncipha kokuguquguquka kwamalungu emilenze kunye nobunzima bokushukuma. |
| Ukujiya kolusu | Ukuqina nokuqina kolusu (okufana ne-scleroderma). |
| Ukunciphisa amafutha emzimbeni | Umaleko wamafutha phantsi kolusu uyalahleka. |
| Utshintsho olubonakalayo ebusweni nasentloko | |
| Ukwandiswa kwentloko | Intloko ibonakala inkulu xa ithelekiswa nobuso (i-macrocephaly). |
| Ubuso obuncinci | Ubuso bubonakala buncinci kwaye bumxinwa xa buthelekiswa nobukhulu bentloko. |
| Ukuma kwempumlo | Impumlo incinci kwaye itsolo, njengomlomo wentaka. |
| Ukunciphisa umhlathi | Ukukhula okunciphileyo komhlathi ongezantsi (i-micrognathia). |
| Ukulibaziseka kokuqaqanjelwa kwamazinyo | Ukulibaziseka kokuqaqanjelwa kwamazinyo kunye nokuxinana kwamazinyo. |
| Iimpawu ezenzekayo njengoko isifo siqhubeka | |
| Ihip-hop | Ukuphuma kwesinqe. |
| IiCataracts | IiCataracts. |
| Isifo samathambo | Isifo samathambo. |
| Amafutha afakwa kwimithambo yegazi | I-atherosclerosis. |
Yintoni isizathu soku? Kutheni oku kusenzeka?
Oku kungenxa yotshintsho oluncinci kakhulu kwijini enye emzimbeni wethu. Le jini ibizwa ngokuba yijini ye-LMNA . Umsebenzi wale jini kukwenza iproteni ebizwa ngokuba yi-lamin A, ekwi-nucleus yeseli nganye emzimbeni wethu kwaye inceda ukuba igcine imo yayo.
Cinga ngeeseli zethu njengezitena, apho i-nucleus iyindawo yokulawula ngaphakathi. Iprotheyini ye-lamin A ifana nesakhelo esomeleleyo esijikeleze loo nucleus.
KwiProgeria, impazamo encinci kwi-gene ye-LMNA ibangela ukuba kuveliswe ikopi engaqhelekanga yeproteni ye-lamin A enesiphako. Oku kubizwa ngokuba yi-I-Progerin . Le protein ye-progerin enesiphene ibangela ukuba i-nucleus yeseli ilahlekelwe ngamandla ayo ize ingazinzi. Kancinci kancinci, ezi seli ziyabola kwaye zife ngaphambi kwexesha. Xa oku kusenzeka kwiseli nganye emzimbeni, umzimba wonke uqala ukwaluphala ngokukhawuleza.
Ngaba esi sisifo esizuzwe njengelifa?
Hayi. Kwiimeko ezininzi, oku akuyonto yemfuza. Olu luguquko lwemfuza oluzenzekelayo. Olu lutshintsho olulawulayo lwe-autosomal . Oku kuthetha ukuba nokuba nekopi enye yemfuza enesiphene kwanele ukubangela esi sifo.
Kodwa, kukho into enye. Ukuba sele unomntwana oneProgeria, umngcipheko wokuba omnye umntwana afumane le meko uphezulu kancinci, phakathi kwe-2% kunye ne-3%. Oku kungenxa yemeko ebizwa ngokuba yi-mosaicism . Oku kuthetha ukuba omnye wabazali unolu tshintsho lwezakhi zofuzo kwezinye iiseli zomzimba wakhe (umzekelo, kwiiseli ezivelisa isidoda okanye amaqanda), kodwa azibonisi zimpawu. Ke ngoko, ukuba umntwana wakho uneProgeria, kubaluleke kakhulu ukufuna uvavanyo lwezakhi zofuzo kwaye uthethe nogqirha wakho ngale nto.
Isifo sichongwa kwaye silawulwa njani?
Ugqirha wakho usenokuyikrokrela le meko ngokusekelwe kwinkangeleko yomzimba yomntwana wakho kunye neempawu zakhe. Ukuqinisekisa ukuxilongwa, kuya kuthathwa isampuli yegazi lomntwana kwaye kuya kwenziwa uvavanyo lwemfuza.
Into ebalulekileyo kukuba akukabikho unyango oluqinisekileyo lweProgeria. Nangona kunjalo, kukho unyango olunokulawula esi sifo kwaye luphucule ubomi bomntwana kunye nomgangatho wobomi.
Iindlela zonyango
1. Amayeza: Eli yeza iLonafarnib lisetyenziselwa oku. Eli yeza, elaphuhliswa okokuqala ngenxa yomhlaza, lifunyenwe linceda ekunciphiseni ukuqhubela phambili kweProgeria. Eli yeza libonakaliswe ukuba landisa ubomi obuqhelekileyo babantwana malunga neminyaka eyi-2.5. Eli,
- Yandisa ukuguquguquka kwemithambo yegazi.
- Yomeleza ulwakhiwo lwamathambo.
- Inceda ukonyusa ubunzima bomzimba.
- Iphucula amandla okuva.
2. Unyango Lomzimba Nonyango Lomsebenzi:
Unyango lomzimba lunceda ukugcina ukuhamba kwamalungu omntwana, ulungelelwano, kunye nesimo sakhe. Unyango lomsebenzi lunceda umntwana afunde ukutya eyedwa, agcine ucoceko lomntu, kwaye enze imisebenzi yemihla ngemihla ngokulula, njengokubhala.
3. Ukuhlolwa rhoqo kwezonyango:
Umntwana oneProgeria ufuna ukubekwa esweni ngugqirha rhoqo ukuze iingxaki ezinokubakho zichongwe kwaye zilawulwe ngokukhawuleza.
| Icandelo loLawulo | Izinto zokwenza |
|---|---|
| Isifo sentliziyo | Ukujonga uxinzelelo lwegazi rhoqo, ii-echocardiograms, kunye nezinye iimvavanyo. Ukunika amayeza afana ne-aspirin enesilinganiselo esiphantsi. |
| Inkqubo yemithambo-luvo | Ukwenza iiskeni ezifana ne-MRI ukujonga imeko yestroke. |
| Amehlo | Ukuhlolwa kwamehlo rhoqo ngenxa yeemeko ezifana nokungaboni kakuhle, amehlo omileyo, njl. Ukungabikho kweenkophe kwandisa umngcipheko wokungena kothuli emehlweni. |
| Ukuva | Ukulahlekelwa kukuva kunokubakho kwaye kufuneka izixhobo zokuncedisa ukuva. |
| Impilo yamazinyo | Iingxaki ezinje ngokulibaziseka kokuphuma kwamazinyo, ukuxinana kwamazinyo, kunye nemingxuma zixhaphakile. Kubalulekile ukutyelela ugqirha wamazinyo rhoqo. |
| Isondlo | Kubalulekile ukunika umntwana iikhalori kunye nolwelo olwaneleyo. Ukuba kuyimfuneko, kungasetyenziswa ityhubhu yokumtyisa. |
Umnyamekela njani umntwana wakho njengomzali?
Ukufumanisa ukuba umntwana wakho uneProgeria yinto enzima ukuyijongana nayo. Kunokuvakala ngathi kukoyikisa. Kodwa awuwedwa kolu hambo. Eyona nto ibalulekileyo kukudala imeko-bume yasekhaya eqhelekileyo neyonwabisayo kangangoko kunokwenzeka kumntwana wakho.
- Nika ubomi obuqhelekileyo:Vumela umntwana wakho ukuba athathe inxaxheba kuyo yonke imisebenzi anokuyenza, kwaye uqinisekise ukuba akaziva eshiywe ngaphandle kwabanye abantwana kusapho.
- Thetha inyani: Thetha nomntwana wakho ngemeko yakhe ngendlela ayiqondayo nehambelana nobudala bakhe. Kubalulekile ukuba nencoko enyanisekileyo ngale nto nomntu wonke kusapho. Ukuba kuyimfuneko, funa ingcebiso kusapho.
- Lungiselela umntwana wakho ukuba ahlangabezane neempendulo zabanye abantu: Abanye abantu banokumjonga umntwana wakho ngokumangaliswa okanye ngokuhleba. Fundisa umntwana wakho indlela yokujongana neemeko ezinjalo.
- Nxibelelana nesikolo: Abantwana abaninzi abaneProgeria baya esikolweni. Nxibelelana rhoqo nabaphathi besikolo, ootitshala, kunye nabongikazi ukuqinisekisa ukhuseleko kunye nentuthuzelo yomntwana wakho. Yenza isicwangciso sento omawuyenze xa kuvela imeko engxamisekileyo (umz., iintlungu zesifuba, ubunzima bokuphefumla) kwaye ugcine isikolo sinolwazi.
Khumbula, ukufumana inkxaso kwiqela lezonyango lomntwana wakho, iingcali zonyango, kunye nabanye abazali kuya kuba luncedo kakhulu ekwenzeni olu hambo lube lula.
Umyalezo Wokuya Ekhaya
- I-Progeria sisifo esingaqhelekanga kakhulu esibangela ukuba imizimba yabantwana yaluphale ngokukhawuleza.
- Oku akuqhelekanga ukuba yimeko yelifa, kodwa kubangelwa kukuguquka kwezakhi zofuzo okungacwangciswanga.
- Akukho ngxaki ngenqanaba lobukrelekrele laba bantwana. Ingxaki ikwisantya sophuhliso lomzimba kunye nokwaluphala.
- Nangona kungekho nyango lucacileyo loku okwangoku, amayeza, unyango lomzimba, kunye nokuhlolwa rhoqo kwezonyango kunokulawula iimpawu kwaye kuphucule ubomi bomntwana kunye nomgangatho wobomi.
- Inkxaso enamandla evela kubazali, kusapho, nakwiqela lezonyango ibalulekile ukuze umntwana aphile ubomi obonwabisayo nobuqhelekileyo kangangoko kunokwenzeka.
💬 Comments (0)
No comments yet. Be the first to share your thoughts here.
Add Your Comment