Owu, yintoni ingxaki ngomntwana wam? Funda ngeWalker-Warburg Syndrome

Njengomama, uziva ulusizi kwaye woyika kangakanani ukuba umntwana wakho uzalwa enenkangeleko engaqhelekanga, engenabomi, okanye eqhwalela, okanye ukuba oogqirha bathi kukho ingxaki ekukhuleni kwamehlo okanye ubuchopho? Ngamanye amaxesha unobangela woku unokuba yimeko yemfuza engaqhelekanga, kodwa imbi kakhulu, ekhoyo xa ezalwa. Namhlanje siza kuthetha ngesifo esinye esinjalo, iWalker-Warburg Syndrome.

Yintoni iWalker-Warburg Syndrome?

Ngamafutshane, iWalker-Warburg Syndrome sisifo semfuza esichaphazela izihlunu zomzimba womntwana wakho, ingakumbi ingqondo namehlo. Sikwiqela lezifo ezibizwa ngokuba yi -congenital muscular dystrophies, eziqala ekuzalweni okanye ebuntwaneni kwaye zibuthathaka kancinci kancinci ngokuhamba kwexesha. Enyanisweni, esi sifo sibangela iimpawu ezisongela ubomi ebantwaneni kwaye, ngelishwa, sinciphisa ubomi babo. Oku kunokuvakala kusoyikisa kuwe, kodwa kubalulekile ukwazi ukuba yintoni.

Yintoni i-dystroglycanopathy? Ngaba kukho unxibelelwano?

Usenokuba ukhe weva iWalker-Warburg Syndrome ibizwa ngokuba yiDystroglycanopathy . Ungakhathazeki, ndiza kuyichaza loo nto.

I-Walker-Warburg syndrome luhlobo lwe-congenital muscular dystrophy. I-Muscular dystrophy liqela lezifo ezichaphazela izihlunu zomzimba womntwana. Iindidi ezahlukeneyo zezi muscular dystrophies zihlelwa njenge-dystroglycanopathies. Oko kukuthi, i-muscular dystrophies ebangelwa ziziphene kwiijini ezivelisa i-protein dystroglycan zibizwa ngeli gama. I-Walker-Warburg syndrome ithathwa njengolona hlobo lunzima, okanye olunzima, lweli qela le-dystroglycanopathies.

Ixhaphake kangakanani le meko? Ngubani onokuyifumana?

I-Walker-Warburg Syndrome sisifo esingaqhelekanga. Kwihlabathi liphela, kuqikelelwa ukuba malunga ne-1 kwi-60,500 yeentsana ezisandul’ ukuzalwa inesifo esi. Ekubeni sisiphumo sokuguquka kwezakhi zofuzo, nabani na anokuba nale meko. Oku kuthetha ukuba uhlanga, unqulo, njl.njl. azibalulekanga.

Ngaba umntwana wam angasifumana esi sifo njengelifa?

Ewe, umntwana wakho angayizuza njengelifa iWalker-Warburg Syndrome.Nantsi indlela eyenzeka ngayo: Xa abazali bobabini bethwala enye yezakhi zofuzo eziguqukileyo ezibangela iWalker-Warburg Syndrome, oko kuthetha ukuba bobabini banekopi enye yezakhi zofuzo ezinesiphako, umntwana uya kufumana esi sifo kuphela ukuba bobabini abazali badlulisela esi zakhi zofuzo emntwaneni ngexesha lokukhulelwa. Le patheni yelifa ibizwa ngokuba yi -autosomal recessive inheritance.

Khawucinge nje, ukuba umntwana wakho ufumana ikopi enye kuphela yale gene iguqukileyo komnye umzali, umntwana akayi kubonisa zimpawu, kodwa umntwana uya kuba ngumthwali wesifo. Oku kuthetha ukuba abantwana bomntwana kwixesha elizayo banokuba nomngcipheko othile wokufumana esi sifo, ukuba omnye umzali naye ungumthwali.

I-Walker-Warburg Syndrome iyichaphazela njani umzimba womntwana wam?

Esi sifo sichaphazela kakhulu izihlunu zomzimba womntwana wakho. Ungabona utshintsho kwizihlunu zomntwana wakho kwangoko nje ukuba azalwe. Umzimba womntwana usenokuba buthathaka kakhulu, njengonodoli ongenabomi , kuba izihlunu azinazo izihlunu ezininzi. Ukongeza kwizihlunu, le meko ikwachaphazela nendlela ingqondo namehlo omntwana wakho akhula kwaye asebenza ngayo. Umntwana wakho unokuba neengxaki zokubona, ukulibaziseka kokukhula, kunye neengxaki zokukhula kwengqondo. Oogqirha bazama ukulawula ezi mpawu ngonyango kwaye bathintele umntwana ekubeni aphile ubomi obufutshane.

Zithini iimpawu zeWalker-Warburg Syndrome?

I-Walker-Warburg Syndrome ibangela iimpawu ezichaphazela izihlunu zomntwana wakho, ingqondo kunye namehlo. Ubunzima bezi mpawu buyahluka. Zihlala zibonakala ekuzalweni okanye ebuntwaneni. Ezinye iimpawu zinokuba yingozi ebomini.

Iimpawu ezinxulumene nemisipha

Iimpawu zesifo sikaWalker-Warburg zichaphazela izihlunu ezisetyenziselwa ukushukuma emntwaneni.

• Xa umntwana ezalwa, angabonakala "engalawuleki" njengonodoli ongenabomi ngenxa yemisipha ephantsi (hypotonia) . Oku kwenza kube nzima kumntwana ukuphakamisa intloko, iingalo, kunye nemilenze yakhe.
• Le meko ibangela ukuba izihlunu zomntwana zibe buthathaka kancinci kancinci , nto leyo ethetha ukuba iimpawu ziya ziba mandundu ngokuhamba kwexesha.
• Ngenxa yokuba izihlunu zomntwana zingasebenzi kakuhle, kunokuba nzima ukusela ubisi kwasebuntwaneni . Basenokungakwazi ukuncanca okanye ukuginya kakuhle.

Iimpawu ezinxulumene nobuchopho

I-Walker-Warburg Syndrome ichaphazela indlela ekhula ngayo ingqondo yomntwana wakho. Iimpawu ezinxulumene nobuchopho zingabandakanya:

• I-Lissencephaly (ubuchopho obugudileyo) yimeko apho ingqondo ibonakala ngathi inamaqhuqhuva kumphezulu wayo, ngaphandle kwemiqolo okanye imingxunya eqhelekileyo. Ngamanye amazwi, umphezulu wobuchopho ubonakala ugudileyo.
• Ukwakheka kolwelo engqondweni(I-Hydrocephalus - intloko yamanzi) Oku kunokubangela ukuba intloko ikhule.
• Ukuphazamiseka kophuhliso lwe-brainstem kunye ne-cerebellum okanye imeko ebizwa ngokuba yi-cerebellar cyst (i-Dandy-Walker malformation) .
• Ukuxhuzula , oko kukuthi, iimeko ezifana nokuxhuzula.

Ezi meko, ezichaphazela ingqondo yomntwana wakho, zinokubangela ukulibaziseka kokukhula kunye nemingeni ngezakhono zobuchopho .

Iimpawu ezinxulumene namehlo

I-Walker-Warburg Syndrome inokuchaphazela uphuhliso lwamehlo omntwana wakho kwaye ibangele iimpawu ezifana nezi:

• Amehlo amancinci (iMicrophthalmia) okanye amehlo amakhulu (iBuphthalmos) .
• Ukufiphala kwamehlo, oko kuthetha ukuba ilensi yeliso ijike yaba mhlophe (iiCataracts) .
• Ukulibaziseka kokudluliselwa kwemiyalezo ngemithambo-luvo yamehlo ethumela imiyalezo esuka emehlweni iye engqondweni.
• Ubunzima bokubona ngokucacileyo (Ukuphazamiseka kokubona) .

Yintoni isizathu soku? Kutheni oku kusenzeka?

I-Walker-Warburg Syndrome ibangelwa kukuguquka kwezakhi zofuzo . Kuye kwafunyaniswa ukuba kukho ii-genes ezingaphezu kweshumi elinesibini ezibangela le meko, kwaye kusenokwenzeka ukuba kukho ezingaphezulu ezingakhange zifunyanwe. Ezinye zezona nguqu ziphambili zezakhi zofuzo ezibangela esi sifo kubantu abangaphezu kwesiqingatha sabo bonke abane-Walker-Warburg Syndrome zezi:

• `POMT1`
• `POMT2`
• `CRPPA` (eyayisakwaziwa njenge`ISPD`)
• `FKTN`
• `FKRP`
• `ENKULU1`
• `POMGNT1`
• `ISPD`
• `GTDC2`
• `DAG1`

Ezi gene ziphazamisana nenkqubo yokongeza iimolekyuli zeswekile kwiproteni ebizwa ngokuba yi -alpha-dystroglycan , inkqubo ebizwa ngokuba yi-glycosylation . Xa le nkqubo ye-glycosylation ingenzeki kakuhle, imicu yemisipha yomntwana ayikwazi ukugcina ulwakhiwo lwayo emzimbeni. Ezi proteni zikwachaphazela nendlela iiseli zemithambo-luvo ezikwingqondo ezihamba ngayo ngexesha lesigaba somntwana osandul’ ukuzalwa, nto leyo ebangela imeko yobuchopho ebizwa ngokuba yi-lissencephaly ekhankanyiweyo ngaphambili.

Ngamafutshane, izihlunu zomntwana one-Walker-Warburg Syndrome zihlala ziqina kwaye zikhululeka. Ekuhambeni kwexesha, ezi ntambo zemisipha ziyawohloka kwaye zibe buthathaka kangangokuba azikwazi ukusebenza.

Ukongeza, iWalker-Warburg Syndrome iphazamisa indlela ii-neurons ezihamba ngayo engqondweni yomntwana. Ngokwesiqhelo, ii-neurons kufuneka zime xa zifika kwindawo eziya kuyo. Nangona kunjalo, ii-neurons ezichaphazelekayo nazo ziyahamba ziye kulwelo olujikeleze ingqondo yomntwana. Oku kunempembelelo enkulu ekuphuhlisweni kwengqondo.

Ifunyanwa njani iWalker-Warburg Syndrome?

Ugqirha wakho usenokuqala ukuvavanya iWalker-Warburg Syndrome xa sele ekhulelwe, kwaye ukuxilongwa kuyaqinisekiswa emva kokuba umntwana ezelwe.

• I-ultrasound scan ngexesha lokukhulelwa inokubona iimpawu, ingakumbi ezo zichaphazela ingqondo yomntwana.
• Emva kokuba umntwana ezelwe, iimvavanyo zemifanekiso ezifana ne -CT scans kunye ne -MRIs zinokubonelela ngomfanekiso ocacileyo wengqondo yomntwana kwaye zihlole imeko yakhe.

Kukho iimvavanyo ezininzi zokuqinisekisa ukufunyaniswa kwe-Walker-Warburg Syndrome:

• Uvavanyo lwezicubu zemisipha luvavanyo lokujonga ukuba imicu yemisipha yomntwana iphilile na. Oku kuquka ukuthatha iqhekeza elincinci lemisipha uze ulihlolisise.
• Uvavanyo lwegazi ukujonga inqanaba leCreatine Kinase (CK) egazini. I-CK yi-enzyme ekhutshwa egazini xa izicubu zemisipha ziqhekeka. Amanqanaba aphezulu e-CK abonisa umonakalo wemisipha.
• Uvavanyo lwamehlo ukujonga iimpawu zeWalker-Warburg Syndrome emehlweni omntwana.
• Uvavanyo lwegazi oluvela kwimfuza ukuze kuchongwe imfuza eguqukileyo ebangela iimpawu.

Zithini iindlela zonyango zoku?

Ngelishwa, akukho nyango lwe-Walker-Warburg Syndrome. Ke ngoko, unyango lujolise kakhulu ekunciphiseni iimpawu. Iindlela zonyango zinokwahluka kumntwana ngamnye ofunyaniswe enale meko, kuxhomekeke kwimeko yomntwana. Iindlela zonyango zingabandakanya:

• Utyando lokususa ulwelo olugqithisileyo engqondweni (i-hydrocephalus).
• Ukunika amayeza okuthintela ukuxhuzula.
• Unyango lomzimba ukuphucula amandla emisipha.
• Ukuba unengxaki yokutya, ukufaka ityhubhu yokutyisa kunokukunceda.

Injongo yonyango lwe-Walker-Warburg Syndrome kukuthintela iimpawu ezisongela ubomi kunye nokunceda ukwandisa ixesha lokuphila komntwana.

Ngaba ikho indlela yokuthintela iWalker-Warburg Syndrome?

Isifo sikaWalker-Warburg sisifo esibangelwa lufuzo, ngoko ke akukho ndlela yokusithintela. Ukuba uceba ukukhulelwa kwaye ufuna ukwazi umngcipheko wokuba nomntwana onesifo esibangelwa lufuzo, kulungile ukuthetha nogqirha wakho malunga novavanyo lofuzo okanye iingcebiso zofuzo .

Ukuba umntwana wam unesi sifo, ndimele ndilindele ntoni?

I-Walker-Warburg Syndrome sisifo esiqhubekayo. Oku kuthetha ukuba iimpawu zinokuba zincinci ekuqaleni, kodwa ziya ziba mandundu ngokuhamba kwexesha. Oku kunokuvakala kulusizi kakhulu, kodwa iintsana ezinale meko zihlala ziphila ubomi obufutshane , zihlala zide zibe ngabantwana. Ugqirha womntwana wakho uya kubonelela ngonyango lokuthintela iimpawu ezisongela ubomi kunye nokwandisa ubomi bomntwana wakho. Khumbula, akukho nyango lwesi sifo.

Ngokuchongwa komntwana wakho, kubalulekile ukuzinyamekela. Kunokuba luncedo kuwe nakusapho lwakho ukuthetha nomcebisi wezemfuza ukuze akuncede uqonde kwaye ujongane nokuxilongwa komntwana wakho kunye neendlela zonyango. Ingcali yezempilo yengqondo inokukunceda ulungiselele kwaye ujongane nokulahlekelwa ngequbuliso okuza nokuxilongwa komntwana wakho. Amaqela okufelwa kunye nenkxaso angaba ngumthombo omkhulu wentuthuzelo kwiintsapho ngeli xesha linzima.

Ndingamsa nini umntwana wam kugqirha?

Ukuba umntwana wakho ubonisa iimpawu zeWalker-Warburg Syndrome, ingakumbi ukungakwazi ukutya , fowunela ugqirha womntwana wakho ngoko nangoko. Kwakhona, yazisa ugqirha wakho ukuba iimpawu zomntwana wakho zibuya ngequbuliso okanye ziya zisiba mandundu , nokuba unyango luye lwaphumelela ukunciphisa iimpawu.

Umntwana wakho usemngciphekweni wokuba nesithuthwane . Ukuba ubona umntwana wakho elahlekelwa zingqondo okwethutyana, eshukuma okanye eshukuma ngokungalawulekiyo, okanye ebonakala edidekile, esoyika, okanye engazinzanga, yiya kwigumbi likaxakeka esibhedlele ngoko nangoko.

Yeyiphi imibuzo endifanele ndiyibuze ugqirha womntwana wam?

Usenokuba nemibuzo emininzi ngeli xesha linzima. Zama ukubuza ugqirha womntwana wakho le mibuzo:

• Ngaba umntwana wam udinga utyando?
• Zithini iziphumo ebezingalindelekanga zonyango?
• Ndingenza ntoni xa umntwana wam enesithuthwane?
• Ndifanele ndizise umntwana wam kangaphi ukuze ahlolwe impilo yakhe?

Ukufumanisa ukuba umntwana wakho osandul’ ukuzalwa unesimo semfuza esiya kumthintela ukuba aphile ubomi obupheleleyo kunokuba ngamava abuhlungu kakhulu. Ngolu xilongo lunzima, ugqirha wakho uya kubonelela ngonyango lokuthintela iimpawu ezisongela ubomi kwaye andise ixesha lokuphila komntwana wakho. Uxilongo lomntwana wakho lunokuba nemvakalelo kakhulu kuwe nakusapho lwakho, ngoko ke qiniseka ukuba ufumana inkxaso oyifunayo. Abantu abaninzi bafumana iingcebiso zemfuza ziluncedo ekufundeni ngakumbi malunga nendlela yokunyamekela umntwana wabo. Ingcali yezempilo yengqondo inokukunceda ukulawula uxinzelelo, ukulungiselela nokujongana nokulahlekelwa okungalindelekanga. Ukuba ufuna uncedo, thetha nogqirha wakho kwaye umxhase.

Isishwankathelo: Umyalezo Wokuya Ekhaya

• I-Walker-Warburg Syndrome sisifo esingaqhelekanga kodwa esiyingozi kakhulu kwimfuza.
• Oku kuchaphazela kakhulu izihlunu zomntwana, ingqondo yakhe, kunye namehlo akhe .
• Iimpawu ziquka ubuthathaka bemisipha (umntwana ongakwaziyo ukuhamba), ukukhubazeka kwengqondo (i-lissencephaly, i-hydrocephalus), isifo sokuwa, kunye neengxaki zamehlo .
• Oku kubangelwa sisiphene semfuza esizuzwe kubazali bobabini .
• Nangona kungekho nyango, kukho unyango lokulawula iimpawu nokwandisa ixesha lokuphila .
• Kubaluleke kakhulu ukuba abazali neentsapho bahlale bomelele engqondweni baze bafumane inkxaso efunekayo ngeli xesha linzima kangaka. Ingcebiso ngemfuza kunye nenkxaso yempilo yengqondo ziya kunceda koku.

Ndiyathemba ukuba olu lwazi lukuncedile ukuba uqonde esi sifo singaqhelekanga. Khumbula, awuwedwa, kwaye oogqirha nabacebisi bakulungele ukukunceda.

Isifo sikaWalker -Warburg, izifo zemfuza, ubuthathaka bemisipha, ukungasebenzi kakuhle kwengqondo, izifo zamehlo, i-congenital muscular dystrophy, impilo yomntwana