Ingabe ingane yakho inalezi zimpawu? Ake sifunde nge-Pfeiffer Syndrome!

Injabulo abazali abayizwayo lapho bebuka umntwana osanda kuzalwa ayichazeki, akunjalo? Ngesikhathi esifanayo, banaka kakhulu yonke imininingwane emincane ngomntwana. Ngezinye izikhathi ungase ucabange ukuthi ukuma kwekhanda lomntwana kuyinto engavamile, noma ukuthi amehlo akhe abukeka emakhulu. Kuvamile ukuzizwa wesaba futhi usola kancane uma ubona izinto ezinjengalezi. Kodwa akuzona zonke izinhlobo zokubukeka okungavamile eziyisibonakaliso sesifo esibi. Kodwa-ke, kubaluleke kakhulu ukuqaphela isimo esingavamile esibizwa ngokuthi i-Pfeiffer Syndrome, esizokhuluma ngaso namuhla.

Iyini i-Pfeiffer Syndrome? Masiyiqonde kalula.

Kalula nje, i-Pfeiffer Syndrome iyisimo sofuzo. Okwenzekayo ukuthi ngaphambi kokuba ubuchopho bomntwana bukhule ngokugcwele, izindawo lapho amathambo ekhanda ahlangana khona, abizwa ngokuthi ama-suture, avala ngaphambi kwesikhathi. Lokhu kubizwa ngokuthi i-craniosynostosis ngokwezokwelapha. Cabanga nje, ubuchopho bethu bunendawo yokukhula. Ngakho-ke, lapho ikhanda livala kusenesikhathi, ubuchopho bukhula ngaphakathi, futhi ikhanda lisunduza kulo. Yingakho isimo sekhanda sisontekile.

Kunezici eziningana eziyinhloko ezingahlonza umntwana onalesi simo.

• Ingxenye ephakathi yobuso ayikhuliswanga kahle noma ibonakala ishone ngaphakathi.
• Amehlo abonakala emakhulu futhi evelele . Ngezinye izikhathi amehlo angahlukaniswa kakhulu.
• Ukuma kwekhanda akujwayelekile.
• Enye into ekhethekile ukuthi izithupha nezinzwane ezinkulu zigobile zisuka kweminye iminwe.

Ungesabi uma ubona eyodwa noma ngaphezulu yalezi zimpawu. Kodwa kubaluleke kakhulu ukufuna iseluleko sezokwelapha.

Ingabe zikhona izinhlobo ze-Pfeiffer Syndrome?

Yebo, odokotela bathole izinhlobo ezintathu eziyinhloko zalesi simo, kuye ngokuthi sibucayi kangakanani. Ake sibone ukuthi ziyini.

Uhlobo 1

Lolu uhlobo olunezimpawu ezimbalwa, noma ezincane. Lokhu kubizwa nangokuthi "i-classic Pfeiffer syndrome." Lezi zingane zingaba nokukhubazeka kobuso, futhi njengoba kushiwo ngaphambili, izinguquko ezinzwaneni ezinkulu. Kodwa-ke, ngokwelashwa okufanele, lezi zingane zingaphila impilo evamile futhi zifunde ngezinga elijwayelekile lokuhlakanipha. Ngakho-ke, lokhu kuyimpumuzo kancane.

Uhlobo 2

Lokhu kuyingozi kakhulu kunohlobo lokuqala. Lolu hlobo lubonakala ngezinkinga eziyinkimbinkimbi zokukhula kwamathambo ezithweni. Izimpawu zifaka:

• Ukungakwazi ukugoba nokwelula kahle indololwane kanye namalunga edolo.
• Izinkinga ze-neurological.
• Ukukhubazeka kwengqondo.

Kulolu hlobo, isikhumba sekhanda siba nesimo "esinezingqimba ezintathu" noma "iqabunga le-clover". Lokhu kusho ukuthi kukhona ukubukeka okuvuvukile, okuvelele kuzo zombili izinhlangothi naphambi kwekhanda. Uma lolu hlobo lungelashwa ngokushesha, lungaba yingozi empilweni.

Uhlobo 3

Lokhu kungathi sína njengohlobo lwesibili. Kodwa-ke, ngeke ubone ukuma "kwe-carnation" kwesikhumba sekhanda kulokhu. Esikhundleni salokho:

• Isisekelo sekhanda sifushane.
• Amazinyo angase abe khona lapho kuzalwa (amazinyo okuzalwa).
• Amehlo abonakala sengathi aphuma ezimbotsheni zawo (i-ocular proptosis).
• Kungase kube nezinkinga ze-visceral.

Isibikezelo sohlobo lwesithathu naso asisihle kangako. Uma singelashwa, kunethuba elikhulu lokufa.

Ngakho-ke njengoba ubona, ubucayi bezinhlobo ezintathu ngayinye buyahlukahluka. Yingakho ukuxilongwa kusenesikhathi kanye nokwelashwa kubalulekile.

Ivame kangakanani i-Pfeiffer Syndrome?

Empeleni lesi yisimo esingavamile kakhulu sofuzo. Ngokwezibalo, oyedwa kuphela kwabayikhulu abazalwayo abanalesi simo. Lokho kusho ukuthi asivamile kakhulu.

Ziyini izimpawu ze-Pfeiffer Syndrome?

Njengoba sixoxile ngaphambili, imbangela eyinhloko ukuvalwa kwangaphambi kwesikhathi kwemisipha phakathi kwamathambo ekhanda lomntwana ngesikhathi sesigaba sokukhulelwa. Ngemva kwalokho, ubuchopho bomntwana buyaqhubeka nokukhula. Lokhu kwandisa ingcindezi ngaphakathi kwekhanda, okubangela izici eziningana zomzimba ezithinta ukubukeka komntwana. Lokhu kufaka phakathi:

• Ikhanda libonakala likhulu kunokujwayelekile, ngokuvamile linebunzi eliphakeme.
• Amehlo avelele noma ibanga elikhudlwana phakathi kwamehlo.
• Impumulo iba bukhali futhi ifane nomlomo.
• Ngenxa yobukhulu bomhlathi omncane , amazinyo ahlanganiswa ndawonye futhi adonswa ndawonye.

Ngaphezu kwalokho, kunezinye izici zomzimba:

• Izinzwane ezinkulu nezinzwane ezinkulu zibanzi futhi zibekwe ngendlela ehlukile kwezinye izinzwane.
• Iminwe inganamatheliswa ndawonye noma ifakwe ulwebu.

Akuzona zonke lezi zimpawu ezizofana kuzo zonke izingane. Zingahluka kuye ngokuthi isimo sibucayi kangakanani.

I-Pfeiffer Syndrome ithinta kanjani umzimba womntwana?

Ngenxa yokuthi ugebhezi lomntwana lukhula ngokushesha ngesikhathi sokukhulelwa, angase abhekane nezinkinga ezahlukahlukene. Ezinye zazo zifaka:

• I-Hydrocephalus: Lokhu kwenzeka lapho uketshezi olufana namanzi luqoqana nxazonke zobuchopho, okwandisa ingcindezi ngaphakathi kogebhezi.
• Izinkinga zamazinyo: njengokugaya nokuqina kwamazinyo.
• Ukulahlekelwa ukuzwa.
• Ubunzima bokunyakaza ngenxa yokuthi amalunga awasebenzi kahle.
• Ukuphefumula komoya.
• Ubunzima bokuphefumula ngekhala (ukuvinjelwa komoya).
• Izinkinga zokubona.

Lezi zinkinga zidinga ukwelashwa okusheshayo kanye nokuphathwa kwesikhathi eside.

Yini ebangela i-Pfeiffer Syndrome?

Imbangela eyinhloko yalesi simo ushintsho, noma ukuguquka kwezakhi zofuzo.Lokhu kubangela ukuthi i-gene okukhulunywa ngayo iyeke ukusebenza kahle. Ngokuvamile, lolu shintsho lwenzeka ku-gene ebizwa ngokuthi `FGFR2 (i-fibroblast growth factor receptor)`. Kodwa-ke, lungabangelwa futhi ushintsho ku-gene ebizwa ngokuthi `FGFR1`. Kwesinye isimo, ushintsho olufanayo lutholakale ku-gene `FGFR3`.

Kalula nje, lolu shintsho lwezakhi zofuzo luphazamisa ukuxhumana phakathi kwamaprotheni asiza amangqamuzana ukukhula (izici zokukhula kwe-fibroblast) kanye nama-receptor awo. Ngenxa yalokho, ngesikhathi sesigaba sombungu, ngaphambi kokuba ubuchopho bomntwana bukhule ngokugcwele, imithungo ephakathi kwamathambo ekhanda iyavaleka. Bese kuthi, njengoba ubuchopho bukhula, amathambo ekhanda avaliwe ayasunduzana, ashintshe ukuma kwawo, futhi abangele ukukhula okungavamile ezingxenyeni ezahlukene zomzimba.

Lokhu kuguquka kwezakhi zofuzo kungazuzwa njengefa komunye wabazali (i-autosomal dominant). Noma, kungaba ushintsho olusha, olungahleliwe ku-DNA yengane (i-de novo mutation). Kuye kwaphawulwa ukuthi lezi zinguquko ezingahleliwe zivame kakhulu uma ubaba eneminyaka engaphezu kwengu-40-45 ubudala ngesikhathi sokuzalwa kwengane.

Lesi simo sithinta bani?

I-Pfeiffer Syndrome iyisimo esingavamile kakhulu, kodwa singenzeka kunoma ubani. Akuyona into engabangela noma ubani ngamabomu, futhi akuyona into engavinjelwa. Ngakho-ke, kubalulekile ukuqaphela lokhu.

I-Pfeiffer Syndrome ihlolwa kanjani?

Lesi simo singatholakala ngisho nangaphambi kokuba umntwana azalwe. Kunezikhathi lapho ukungajwayelekile ohlelweni lwamathambo lomntwana kungatholakala khona ngesikhathi sesigaba somntwana osanda kuzalwa ngokusebenzisa izikena ze-ultrasound zangaphambi kokubeletha noma ukuhlolwa kwe-magnetic resonance imaging (MRI).

Kodwa-ke, ukuxilongwa kuvame ukuqinisekiswa ngemva kokuzalwa komntwana. Udokotela angenza ukuhlolwa ngokomzimba komntwana futhi angenza i-computed tomography scan (CT scan) noma i-MRI ukuze abheke ukukhubazeka ekhanda nakwamanye amathambo. Ukuhlolwa kofuzo, okubheka izinguquko ku-FGFR1 kanye ne-FGFR2 gene, kungaqinisekisa nokuxilongwa.

Yiziphi izindlela zokwelapha i-Pfeiffer Syndrome?

Ukwelashwa kwalesi simo kusekelwe ezimpawini. Udokotela wengane yakho angase ancome ukuhlinzwa okuningana ukuze kulungiswe ukukhubazeka kokukhula kwamathambo.

Ukwelashwa okusheshayo ukuhlinzwa ukuze kuncishiswe ingcindezi ekhanda (craniosynostosis) njengoba ubuchopho bomntwana bukhula. Noma, uma uketshezi luqoqana ekhanda (hydrocephalus), kufakwa ipayipi elincane (shunt) ekhanda ukuze kukhishwe uketshezi. Lokhu kuhlinzwa kuvame ukwenziwa ngaphambi kokuba umntwana abe nezinyanga ezine ubudala.

Phakathi nonyaka wokuqala womntwana, odokotela bangase batuse nokuhlinzwa ukuze kuvulwe ugebhezi ukuze ubuchopho bukhule.

Ngemva kwalokho,Ukuhlinzwa kabusha nokulungisa ubuhle kwenziwa ukuze kulungiswe ukungalingani kobuso, kuvulwe imigudu yomoya, futhi kubuyiselwe isimo sekhanda.

Into ebalulekile ukuthi, ngaphansi kokuqondisa kukadokotela wengane, iningi lezingane ezine-Pfeiffer Syndrome lingasizwa ukuthi lifinyelele amandla alo aphelele.

Yiziphi izindlela zokwelapha ezitholakalayo zokuqeda izinkinga ze-Pfeiffer Syndrome?

Ngaphezu kokuhlinzwa, kunezindlela zokwelapha ezinciphisa izinkinga zalesi simo.

• Ukwelashwa kwamazinyo kanye nokwelashwa kwamazinyo ezintweni ezinjengokuxinana kwamazinyo kanye nolwanga olugobile.
• Ukwelashwa kwamehlo ngenxa yokukhubazeka kokubona.
• Ukusetshenziswa kwezinsiza-kuzwa kubantu abanenkinga yokuzwa.

Konke lokhu kwenzelwa ukusiza ingane ukuthi iphile impilo evamile ngangokunokwenzeka.

Ingabe ikhona ikhambi eliphelele lalokhu?

Ngeshwa, okwamanje akukho ukwelashwa kwe-Pfeiffer Syndrome. Ukuhlinzwa kanye nezinye izindlela zokwelapha kuhloswe ngazo ukunciphisa izimpawu zengane nokuyisiza ukuthi ikhule kahle.

Yini okufanele uyilindele njengomzali wengane ene-Pfeiffer Syndrome?

I-Pfeiffer Syndrome yisimo esihlala isikhathi eside esingenalo ikhambi. Udokotela wengane yakho uzokwakha uhlelo lokwelapha ukusiza ukulawula izimpawu. Lokhu kungafaka phakathi ukuhlinzwa okuningana.

• Uma ingane yakho ine-Type 1 Pfeiffer syndrome, isikhathi sayo sokuphila cishe sizoba esivamile.
• Kodwa-ke, izingane ezine-Type 2 noma i-Type 3 Pfeiffer syndrome cishe zizoba nezinkinga eziningi kanye nokuphila isikhathi esifushane uma zingelashwa .

Ngakho-ke, kubaluleke kakhulu ukuyisa ingane yakho ekuhlolweni kwempilo njalo ukuze iqaphele noma yiziphi izinkinga zempilo noma zokukhula engase ibe nazo njengoba ikhula.

Nginganciphisa yini ingozi yokuba nengane ene-Pfeiffer Syndrome?

Uma ukhulelwe umntwana, khuluma nodokotela wakho mayelana nokwelulekwa ngofuzo kanye nokuhlolwa kofuzo. Uma wena noma umlingani wakho ninokuguqulwa kofuzo lwe-FGFR1 noma lwe-FGFR2, kunobungozi obungu-50% bokuthi ingane yakho izolithola njengefa. Lokhu kusho ukuthi uma unengane, kunethuba elingu-50-50 lokuthi izoba nalesi simo noma cha.

Kodwa-ke, uma bobabili abazali bengenaso lesi simo, ingozi yokuthi ingane yesibili ibe nalesi simo iphansi kakhulu. Kodwa-ke, akunakushiwo ukuthi ayilutho nhlobo, ngoba izinguquko zofuzo ezingahleliwe okukhulunywe ngazo ngaphambilini (de novo mutations) zingenzeka.

Kufanele ngimbone nini udokotela wengane yami?

Uma ingane yakho ine-Pfeiffer Syndrome, qaphela okulandelayo:

• Uma ingane inenkinga yokuphefumula.
• Uma indawo yokuhlinzwa ingapholi kahle, ishintshe umbala, ivuvukele, noma inobovu (lokhu kungasho ukutheleleka).
• Uma ingane ingahlangabezani nezigaba zokukhula ezifanele iminyaka yayo.
• Uma bengaphenduli emiyalweni elula, ekhulunywayo noma uma bethola izifo zendlebe njalo.

Uma ubona into efana nale, bona udokotela ngokushesha.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Kuhle ukubuza imibuzo efana nale:

• Yikuphi ukwelashwa okufanele kakhulu enganeni yami?
• Yiziphi izingozi ezihlobene nokuhlinzwa ukuze kwelashwe lesi simo?
• Uma nginenye ingane, ingabe ikhona ingozi yokuthi nayo izobe inalesi simo?

Ngaphezu kwale mibuzo, buza udokotela noma yini onayo engqondweni.

Ingabe ingane kaPrince nayo yayine-Pfeiffer Syndrome?

Yebo, lesi yisigameko esaziwayo. Encwadini yakhe ka-2017, ethi The Most Beautiful: My Life with Prince, uMayte Garcia, umkamculi odumile uPrince, uchaze indlela ingane abayithola ngayo ngo-1996 eyayinesifo se-Pfeiffer syndrome uhlobo 2. Ngeshwa, ingane yashona isencane ngenxa yezinkinga ezinkulu ezivela kulesi simo. UGarcia uchaza ukuthi yena noPrince babengenaso lesi simo sofuzo, nokuthi kukholakala ukuthi ingane yasithola ngenxa yokuguquka kwezakhi zofuzo okusha. Lokhu kukhombisa ukuthi lesi simo sibucayi kangakanani nokuthi singaba sibi kangakanani ngezinye izikhathi.

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Pfeiffer Syndrome iyisimo esingavamile nesiyinkimbinkimbi sezakhi zofuzo. Kungadinga ukuhlinzwa okuningi ukuze kuncishiswe izimpawu. Kodwa-ke, ngokwelashwa okufanele kanye nokuqashwa okuhle kwezokwelapha, ingane yakho ingakhula futhi ifunde njengabanye abantwana. Kodwa-ke, kunezinkinga ezithile okufanele uziqaphele.

Uma othile emndenini wakho ene-Pfeiffer Syndrome, futhi ulindele umntwana, kubaluleke kakhulu ukuthola ukwelulekwa ngofuzo. Lokhu kuzokusiza ukuthi ubone ukuthi ingane yakho isengozini yokuthola lesi simo.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Khumbula, awuwedwa. Kubaluleke kakhulu ukuthola ukwesekwa kodokotela nomndeni lapho ubhekene nezimo ezinjengalezi.

I- Pfeiffer syndrome, i-Pfeiffer syndrome, izifo zofuzo, ugebhezi, i-craniosynostosis, impilo yengane, i-FGFR gene, ukuhlinzwa