O, yini inkinga ngomntanami? Funda nge-Walker-Warburg Syndrome

Njengomama, kufanele uzizwe udabuke futhi wesaba kangakanani uma ingane yakho izalwa inokubukeka okungajwayelekile, ingaphili, noma ixhuga, noma uma odokotela bethi kunenkinga ngokuthuthukiswa kwamehlo noma kobuchopho? Ngezinye izikhathi imbangela yalokhu ingaba yisimo esingavamile kakhulu, kodwa esibi kakhulu, sofuzo esikhona lapho izalwa. Namuhla sizokhuluma ngesifo esisodwa esinjalo, i-Walker-Warburg Syndrome.

Iyini i-Walker-Warburg Syndrome?

Kalula nje, i-Walker-Warburg Syndrome yisimo sofuzo esithinta imisipha emzimbeni wengane yakho, ikakhulukazi ubuchopho namehlo. Singeqembu lezifo ezibizwa ngokuthi i-congenital muscular dystrophies, eziqala ekuzalweni noma ebuntwaneni futhi kancane kancane zenze imisipha ibe buthaka ngokuhamba kwesikhathi. Eqinisweni, lesi simo sibangela izimpawu ezisongela ukuphila ezinganeni futhi, ngeshwa, sifinyeza isikhathi sokuphila kwazo. Lokhu kungase kuzwakale kusabisa kuwe, kodwa kubalulekile ukwazi ukuthi kuyini.

Kuyini i-dystroglycanopathy? Ingabe kukhona ukuxhumana?

Kungenzeka ukuthi uke wezwa i-Walker-Warburg Syndrome ibizwa ngokuthi i-Dystroglycanopathy . Ungakhathazeki, ngizoyichaza.

I-Walker-Warburg syndrome uhlobo lwe-congenital muscular dystrophy. I-Muscular dystrophy yiqembu lezifo ezithinta imisipha yomzimba wengane. Izinhlobo eziningana zalezi zi-muscular dystrophies zihlukaniswa njenge-dystroglycanopathies. Okusho ukuthi, i-muscular dystrophies ebangelwa ukukhubazeka kwezakhi zofuzo ezikhiqiza iphrotheni i-dystroglycan ibizwa ngaleli gama. I-Walker-Warburg syndrome ibhekwa njengohlobo olubi kakhulu, noma olubi kakhulu, lwaleli qembu le-dystroglycanopathies.

Sivame kangakanani lesi simo? Ubani ongasithola?

I-Walker-Warburg Syndrome iyisifo esingavamile kakhulu. Emhlabeni wonke, kulinganiselwa ukuthi cishe ingane eyodwa kwezingu-60,500 ezisanda kuzalwa ihlushwa yilesi sifo. Njengoba kungumphumela wokuguquka kwezakhi zofuzo, noma ubani angaba nalesi simo. Lokhu kusho ukuthi uhlanga, inkolo, njll. akubalulekile.

Ingabe ingane yami ingasithola lesi sifo njengefa?

Yebo, ingane yakho ingazuza i-Walker-Warburg Syndrome njengefa.Nansi indlela okwenzeka ngayo: Lapho bobabili abazali bengabathwali besinye sezakhi zofuzo eziguquliwe esibangela i-Walker-Warburg Syndrome, okusho ukuthi bobabili banekhophi eyodwa yezakhi zofuzo ezinephutha, ingane izothola lesi sifo kuphela uma bobabili abazali bedlulisela isakhi sofuzo enganeni ngesikhathi sokukhulelwa. Le ndlela yofuzo ibizwa ngokuthi i-autosomal recessive inheritance.

Cabanga nje, uma ingane yakho ithola ikhophi eyodwa kuphela yalesi sakhi sofuzo esiguquliwe komunye umzali, ingane ngeke ibonise izimpawu, kodwa ingane izoba ngumthwali walesi sifo. Lokhu kusho ukuthi izingane zengane esikhathini esizayo zingase zibe nengozi ethile yokuthola lesi sifo, uma omunye umzali naye engumthwali waso.

I-Walker-Warburg Syndrome ithinta kanjani umzimba wengane yami?

Lesi sifo sithinta kakhulu imisipha yomzimba wengane yakho. Ungase uqaphele izinguquko emisipheni yengane yakho ngokushesha nje lapho izalwa. Umzimba wengane ungase untekenteke kakhulu, njengodoli ongaphili , ngoba imisipha ayinayo imisipha eminingi. Ngaphezu kwemisipha, lesi simo sithinta nendlela ubuchopho namehlo engane yakho akhula futhi asebenza ngayo. Ingane yakho ingaba nezinkinga zokubona, ukubambezeleka kokukhula, kanye nezinkinga zokukhula kwengqondo. Odokotela bazama ukulawula lezi zimpawu ngokwelashwa futhi bavimbele ingane ukuthi ingabi nesikhathi sokuphila esifinyeziwe.

Ziyini izimpawu ze-Walker-Warburg Syndrome?

I-Walker-Warburg Syndrome ibangela izimpawu ezithinta imisipha yengane yakho, ubuchopho kanye namehlo. Ubukhulu balezi zimpawu bungahluka. Ngokuvamile zibonakala ekuzalweni noma ebuntwaneni. Ezinye izimpawu zingasongela impilo.

Izimpawu ezihlobene nemisipha

Izimpawu ze-Walker-Warburg syndrome zithinta imisipha esetshenziselwa ukunyakaza enganeni.

• Uma umntwana ezalwa, angase abonakale “engaqinile” njengonodoli ongaphili ngenxa yokuqina kwemisipha (hypotonia) . Lokhu kwenza kube nzima ngengane ukuphakamisa ikhanda, izingalo nemilenze.
• Lesi simo sibangela ukuba imisipha yengane ibe buthaka kancane kancane , okusho ukuthi izimpawu ziya ziba zimbi kakhulu ngokuhamba kwesikhathi.
• Ngenxa yokuthi imisipha yengane ayisebenzi kahle, kungaba nzima ukuphuza ubisi isencane . Ingase ingakwazi ukumunca noma ukugwinya kahle.

Izimpawu ezihlobene nobuchopho

I-Walker-Warburg Syndrome ithinta indlela ubuchopho bomntwana wakho obukhula ngayo. Izimpawu ezihlobene nobuchopho zingafaka:

• I-Lissencephaly (ubuchopho obubushelelezi) yisimo lapho ubuchopho bubonakala bunamaqhubu ebusweni bawo, ngaphandle kokugoba noma imifantu evamile. Ngamanye amazwi, ubuso bobuchopho bubonakala bubushelelezi.
• Ukwakheka koketshezi ebuchosheni(I-Hydrocephalus - ikhanda lamanzi) Lokhu kungabangela ukuthi ikhanda likhule.
• Ukukhubazeka kokukhula kwe-brainstem kanye ne-cerebellum noma isimo esibizwa ngokuthi i-cerebellar cyst (i-Dandy-Walker malformation) .
• Ukuquleka , okungukuthi, izimo ezifana nokuquleka.

Lezi zimo, ezithinta ubuchopho bengane yakho, zingabangela ukukhula okulibazisekayo kanye nezinselele ngamakhono obuhlakani .

Izimpawu ezihlobene namehlo

I-Walker-Warburg Syndrome ingathinta ukukhula kwamehlo engane yakho futhi ibangele izimpawu ezifana nalezi:

• Amehlo amancane (i-Microphthalmia) noma amehlo amakhulu (i-Buphthalmos) .
• Ukufiphala kwamehlo, okusho ukuthi ilensi yeso isiphenduke yaba mhlophe (Cataracts) .
• Ukubambezeleka kokudluliselwa kwemiyalezo ngemizwa yamehlo ethumela imiyalezo esuka emehlweni iye ebuchosheni.
• Ubunzima bokubona kahle (ukukhubazeka kokubona) .

Iyini imbangela yalokhu? Kungani lokhu kwenzeka?

I-Walker-Warburg Syndrome ibangelwa ukuguquka kwezakhi zofuzo . Kutholakale izakhi zofuzo ezingaphezu kweshumi nambili ezibangela lesi simo, futhi kungenzeka ukuthi kunezinye ezingakatholakali. Ezinye zezakhi zofuzo eziyinhloko ezibangela lesi sifo kubantu abangaphezu kwengxenye yabo bonke abane-Walker-Warburg Syndrome yilezi:

• `POMT1`
• `POMT2`
• `CRPPA` (eyayaziwa ngokuthi `ISPD`)
• `FKTN`
• `FKRP`
• `OKUKHULU1`
• `POMGNT1`
• `I-ISPD`
• `GTDC2`
• `DAG1`

Lezi zakhi zofuzo ziphazamisa inqubo yokwengeza ama-molecule kashukela kuphrotheni ebizwa ngokuthi i-alpha-dystroglycan , inqubo ebizwa ngokuthi i-glycosylation . Uma le nqubo ye-glycosylation ingenzeki kahle, imicu yemisipha yomntwana ayikwazi ukugcina isakhiwo sayo emzimbeni. Lawa maprotheni aphinde athinte indlela amangqamuzana ezinzwa ebuchosheni ahamba ngayo ngesikhathi sokukhulelwa, okuyikho okubangela isimo sobuchopho esibizwa ngokuthi i-lissencephaly okukhulunywe ngaso ngaphambili.

Kalula nje, imisipha yengane ene-Walker-Warburg Syndrome ihlala iqina futhi ikhululeka. Ngokuhamba kwesikhathi, le micu yemisipha yonakala futhi ibe buthakathaka kuze kube yilapho ingasakwazi ukusebenza.

Ngaphezu kwalokho, i-Walker-Warburg Syndrome iphazamisa indlela ama-neurons ahamba ngayo ebuchosheni bengane. Ngokuvamile, ama-neurons kufanele ame lapho efika lapho eya khona. Kodwa-ke, ama-neurons athintekile nawo ayahamba aye oketshezini oluzungeze ubuchopho bengane. Lokhu kunomthelela omkhulu ekukhuleni kobuchopho.

Ihlolwa kanjani i-Walker-Warburg Syndrome?

Udokotela wakho angase aqale ukuhlola i-Walker-Warburg Syndrome ekupheleni kokukhulelwa, futhi ukuxilongwa kuqinisekiswa ngemva kokuzalwa komntwana.

• Ukuhlolwa kwe-ultrasound ngesikhathi sokukhulelwa kungabona izimpawu, ikakhulukazi lezo ezithinta ubuchopho bomntwana.
• Ngemva kokuzalwa komntwana, ukuhlolwa kwezithombe ezifana ne -CT scans kanye ne -MRIs kunganikeza isithombe esicacile sobuchopho bomntwana futhi kuhlolwe isimo.

Kunezivivinyo eziningana zokuqinisekisa ukutholakala kwe-Walker-Warburg Syndrome:

• Ukuhlolwa kwezicubu zemisipha kuwukuhlolwa kokubona ukuthi imicu yemisipha yengane iphilile yini. Lokhu kuhilela ukuthatha ingxenye encane yemisipha bese uyihlola.
• Ukuhlolwa kwegazi ukuhlola izinga le- Creatine Kinase (CK) egazini. I-CK iyi-enzyme ekhishwa egazini lapho izicubu zemisipha ziphuka. Amazinga aphezulu e-CK abonisa ukulimala kwemisipha.
• Ukuhlolwa kwamehlo ukuhlola izimpawu ze-Walker-Warburg Syndrome emehlweni engane.
• Ukuhlolwa kwegazi lofuzo ukuze kutholakale i-gene eguqukile ebangela izimpawu.

Yiziphi izindlela zokwelapha lokhu?

Ngeshwa, ayikho ikhambi le-Walker-Warburg Syndrome. Ngakho-ke, ukwelashwa kuhloswe kakhulu ekunciphiseni izimpawu. Izindlela zokwelapha zingahluka kumntwana ngamunye otholakale enalesi simo, kuye ngesimo sengane. Izindlela zokwelapha zingafaka:

• Ukuhlinzwa kokususa uketshezi oluningi ebuchosheni (i-hydrocephalus).
• Ukunikeza imithi yokuvimbela ukuquleka.
• Ukwelashwa ngokomzimba ukuze kuthuthukiswe amandla emisipha.
• Uma unenkinga yokudla, ukufaka ipayipi lokuncelisa kungasiza.

Umgomo wokwelashwa kwe-Walker-Warburg Syndrome ukuvimbela izimpawu ezisongela impilo nokusiza ukwandisa isikhathi sokuphila kwengane.

Ingabe ikhona indlela yokuvimbela i-Walker-Warburg Syndrome?

I-Walker-Warburg Syndrome iyisimo sofuzo, ngakho-ke ayikho indlela yokusivimbela. Uma uhlela ukukhulelwa futhi ufuna ukwazi ngengozi yakho yokuba nengane enesifo sofuzo, kuwumqondo omuhle ukukhuluma nodokotela wakho mayelana nokuhlolwa kofuzo noma ukwelulekwa ngofuzo .

Uma ingane yami inalesi sifo, yini okufanele ngiyilindele?

I-Walker-Warburg Syndrome iyisifo esiqhubekayo. Lokhu kusho ukuthi izimpawu zingase zibe zincane ekuqaleni, kodwa ziba zimbi kakhulu ngokuhamba kwesikhathi. Lokhu kungase kuzwakale kudabukisa kakhulu, kodwa izingane ezinalesi simo zivame ukuba nesikhathi esifushane sokuphila , ngokuvamile kuze kube yilapho zisencane. Udokotela wengane yakho uzokunikeza ukwelashwa ukuvimbela izimpawu ezisongela ukuphila nokwandisa impilo yengane yakho. Khumbula, ayikho ikhambi lalesi sifo.

Ngokuthola kwengane yakho isifo, kubalulekile ukuzinakekela. Kungaba usizo kuwe nomndeni wakho ukukhuluma nomeluleki wezakhi zofuzo ukuze akusize uqonde futhi ubhekane nokuxilongwa kwengane yakho kanye nezinketho zokwelashwa. Uchwepheshe wezempilo yengqondo angakusiza futhi ukuthi ulungiselele futhi ubhekane nokulahlekelwa okungazelelwe okuhambisana nokuxilongwa kwengane yakho. Amaqembu okulahlekelwa kanye nokusekela angaba umthombo omkhulu wenduduzo emindenini kulezi zikhathi ezinzima.

Kufanele ngiyise nini ingane yami kudokotela?

Uma ingane yakho ibonisa izimpawu ze-Walker-Warburg Syndrome, ikakhulukazi ukungakwazi ukudla , shayela udokotela wengane yakho ngokushesha. Futhi, yazisa udokotela wakho uma izimpawu zengane yakho zibuya ngokuzumayo noma ziba zimbi kakhulu , noma ngabe ukwelashwa kuphumelele ekunciphiseni izimpawu.

Ingane yakho isengozini yokuba nesithuthwane . Uma ubona ingane yakho ilahlekelwa ingqondo okwesikhashana, idikiza noma inyakaza ngokungalawuleki, noma ibonakala ididekile, yesaba, noma ingenakuthula, iya ekamelweni lezimo eziphuthumayo esibhedlela ngokushesha.

Yimiphi imibuzo okufanele ngiyibuze udokotela wengane yami?

Ungase ube nemibuzo eminingi phakathi nalesi sikhathi esinzima. Zama ukubuza udokotela wengane yakho le mibuzo:

• Ingabe ingane yami idinga ukuhlinzwa?
• Iyini imiphumela emibi yokwelashwa?
• Ngenzenjani uma ingane yami inesifo sokuwa?
• Kufanele ngiyise ingane yami kangaki ukuze iyohlolwa impilo yayo?

Ukuthola ukuthi ingane yakho esanda kuzalwa inesimo sofuzo esizoyivimbela ukuba iphile impilo egcwele kungaba yinto ebuhlungu kakhulu. Ngalesi sifo esinzima, udokotela wakho uzokunikeza ukwelashwa ukuvimbela izimpawu ezisongela impilo futhi andise isikhathi sokuphila kwengane yakho. Ukuxilongwa kwengane yakho kungaba ngokomzwelo kakhulu kuwe nomndeni wakho, ngakho qiniseka ukuthi uthola ukwesekwa okudingayo. Abantu abaningi bathola ukwelulekwa ngofuzo kuwusizo ekufundeni kabanzi mayelana nendlela yokunakekela ingane yabo. Uchwepheshe wezempilo yengqondo angakusiza ukuphatha ukucindezeleka, ukulungiselela nokubhekana nokulahlekelwa okungalindelekile. Uma udinga usizo, khuluma nodokotela wakho futhi ube ngumsekeli.

Isifinyezo: Umyalezo Wokuya Nawe Ekhaya

• I-Walker-Warburg Syndrome iyisifo esingavamile kodwa esibi kakhulu esibangelwa izakhi zofuzo.
• Lokhu kuthinta kakhulu imisipha yengane, ubuchopho kanye namehlo .
• Izimpawu zifaka phakathi ubuthakathaka bemisipha (ingane egoqekayo), ukukhubazeka kobuchopho (i-lissencephaly, i-hydrocephalus), isifo sokuwa, kanye nezinkinga zamehlo .
• Lokhu kubangelwa ukukhubazeka kwezakhi zofuzo okuzuzwe kubazali bobabili .
• Nakuba kungekho ikhambi, kunezindlela zokwelapha zokulawula izimpawu nokwandisa isikhathi sokuphila .
• Kubaluleke kakhulu ukuthi abazali nemindeni bahlale beqinile engqondweni futhi bathole ukwesekwa okudingekayo phakathi naleso sikhathi esinzima. Ukwelulekwa ngofuzo kanye nokusekelwa ngempilo yengqondo kuzosiza kulokhu.

Ngiyethemba ukuthi lolu lwazi lukusizile ukuthi uqonde lesi simo esingavamile. Khumbula, awuwedwa, futhi odokotela nabeluleki bakulungele ukukusiza.

I- Walker-Warburg syndrome, izifo zofuzo, ubuthakathaka bemisipha, ukukhubazeka kobuchopho, izifo zamehlo, i-congenital muscular dystrophy, impilo yengane