Ingaba umntwana wakho unazo ezi mpawu? Masifunde ngePfeiffer Syndrome!

Uvuyo oluviwa ngabazali xa bejonga usana olusandul’ ukuzalwa alunakuchazwa, akunjalo? Kwangaxeshanye, banikela ingqalelo enkulu kuzo zonke iinkcukacha ezincinci malunga nosana. Ngamanye amaxesha unokucinga ukuba ukuma kwentloko yosana kuyinto engaqhelekanga, okanye ukuba amehlo abonakala emakhulu. Kuqhelekile ukuziva usoyika kwaye ukrokrela xa ubona izinto ezinje. Kodwa ayizizo zonke iintlobo zembonakalo engaqhelekanga ezibonisa isifo esinzulu. Nangona kunjalo, kubaluleke kakhulu ukuqaphela imeko engaqhelekanga ebizwa ngokuba yiPfeiffer Syndrome, esiza kuthetha ngayo namhlanje.

Yintoni iPfeiffer Syndrome? Masiyiqonde ngokulula.

Ngamafutshane, iPfeiffer Syndrome yimeko yemfuza. Okwenzekayo kukuba ngaphambi kokuba ingqondo yomntwana ikhule ngokupheleleyo, iindawo apho amathambo ekhayeni adibana khona, abizwa ngokuba yi-sutures, zivaleka ngaphambi kwexesha. Oku kubizwa ngokuba yi-craniosynostosis ngokwezonyango. Khawuthelekelele, ubuchopho bethu bunendawo yokukhula. Ngoko ke, xa ikhayeni livala kwangethuba, ingqondo ikhula ngaphakathi, kwaye ikhayeni lityhala. Yiyo loo nto imo yekhayeni igqwethekile.

Kukho iimpawu eziphambili ezininzi ezinokumchonga umntwana onesi sifo.

• Inxalenye esembindini yobuso ayikhuliswanga kakuhle okanye ibonakala ingena ngaphakathi.
• Amehlo abonakala emakhulu kwaye evelele . Ngamanye amaxesha amehlo anokubekwa kude kakhulu.
• Indlela olumile ngayo ukhakhayi ayiqhelekanga.
• Enye into ekhethekileyo kukuba oobhontsi kunye neenzwane ezinkulu zigobile zisuka kweminye iminwe.

Musa ukoyika ukuba ubona enye okanye ngaphezulu kwezi mpawu. Kodwa kubaluleke kakhulu ukufuna ingcebiso kagqirha.

Ngaba kukho iintlobo zePfeiffer Syndrome?

Ewe, oogqirha bachonge iintlobo ezintathu eziphambili zale meko, kuxhomekeke kubunzima bayo. Masibone ukuba zithini.

Uhlobo 1

Olu luhlobo oluneempawu ezimbalwa, okanye ezithambileyo. Olu lukwabizwa ngokuba yi-"classic Pfeiffer syndrome." Ezi zingane zinokuba nokukhubazeka kobuso, kwaye njengoko bekutshiwo ngaphambili, utshintsho kwiinzwane ezinkulu. Nangona kunjalo, ngonyango olufanelekileyo, aba bantwana banokuphila ubomi obuqhelekileyo kwaye bafunde ngenqanaba eliqhelekileyo lobukrelekrele. Ngoko ke, oku kuyanceda kancinci.

Uhlobo 2

Olu luhlobo lubi kakhulu kunolokuqala. Olu hlobo lubonakala ngeengxaki ezinzima zokukhula kwamathambo kwimilenze. Iimpawu ziquka:

• Ukungakwazi ukugoba nokwandisa ingqiniba kunye namalungu edolo ngokufanelekileyo.
• Iingxaki ze-neurological.
• Ukukhubazeka kwengqondo.

Kolu hlobo, intloko yentloko iba nesimo "esine-lobed" okanye "i-cloverleaf". Oku kuthetha ukuba kukho ukubonakala okudumbileyo, okuphumayo kumacala omabini naphambi kwentloko. Ukuba olu hlobo alunyangwa ngokukhawuleza, lunokuba yingozi ebomini.

Uhlobo 3

Oku kunzulu njengohlobo lwesibini. Nangona kunjalo, awuyi kubona imilo "ye-carnation" yentloko yentloko kule meko. Endaweni yoko:

• Isiseko sekhakayi sifutshane.
• Amazinyo anokubakho xa ezalwa (amazinyo okubeleka).
• Amehlo abonakala ngathi aphuma kwimingxuma yawo (ocular proptosis).
• Kusenokubakho iingxaki ze-visceral.

Ingqikelelo yohlobo lwesithathu nayo ayilunganga kangako. Ukuba ayinyangwa, kukho amathuba aphezulu okufa.

Ngoko ke njengoko ubona, ubunzima besifo ngasinye kwezi ntlobo zintathu buyahluka. Yiyo loo nto ukuxilongwa kwangoko kunye nonyango kubalulekile.

Ixhaphake kangakanani iPfeiffer Syndrome?

Esi sisifo esingaqhelekanga kakhulu esibangelwa lufuzo. Ngokwezibalo, ngumntwana omnye kuphela kwabalikhulu lamawaka ozelweyo onesifo esinjalo. Oko kuthetha ukuba asiqhelekanga kakhulu.

Zithini iimpawu zePfeiffer Syndrome?

Njengoko besixoxile ngaphambili, unobangela oyintloko kukuvalwa kwangaphambi kwexesha kwemithambo phakathi kwamathambo entloko yomntwana ngexesha lesigaba sokukhulelwa. Emva koko, ingqondo yomntwana iyaqhubeka nokukhula. Oku kwandisa uxinzelelo ngaphakathi kwentloko, okubangela iimpawu ezininzi zomzimba ezichaphazela inkangeleko yomntwana. Ezi ziquka:

• Intloko ibonakala inkulu kunesiqhelo, idla ngokuba nebunzi eliphezulu.
• Amehlo avele ngaphandle okanye umgama ongaphezulu phakathi kwamehlo.
• Impumlo iba bukhali kwaye ifane nomlomo.
• Ngenxa yobukhulu bomhlathi obuncinci , amazinyo axinene kwaye atsalwa kunye.

Ukongeza, kukho nezinye iimpawu zomzimba:

• Iinzwane ezinkulu kunye neenzwane ezinkulu zibanzi kwaye zibekwe ngendlela eyahlukileyo kwezinye iinzwane.
• Iminwe inokuthi incamathiselwe okanye ifakwe intambo.

Ayizizo zonke ezi mpawu eziya kufana kumntwana ngamnye. Zinokwahluka ngokuxhomekeke kubukhali bemeko.

I-Pfeiffer Syndrome iyichaphazela njani umzimba womntwana?

Ngenxa yokuba ukhakhayi lomntwana lukhula ngokukhawuleza ngexesha lokukhulelwa, usenokuba neengxaki ezahlukeneyo. Ezinye zazo ziquka:

• I-Hydrocephalus: Oku kwenzeka xa ulwelo olufana namanzi luqokelelana lujikeleze ingqondo, lunyusa uxinzelelo ngaphakathi kwentloko.
• Iingxaki zamazinyo: ezinje ngokugaywa nokuqiniswa kwamazinyo.
• Ukulahlekelwa kukuva.
• Ubunzima bokuhamba ngenxa yokuba amalungu angasebenzi kakuhle.
• Ukuphelelwa ngamandla xa ulele.
• Ubunzima bokuphefumla ngempumlo (ukuvaleka komoya).
• Iingxaki zokubona.

Ezi ngxaki zifuna unyango olukhawulezileyo kunye nolawulo olude.

Yintoni ebangela iPfeiffer Syndrome?

Isizathu esiyintloko sale meko kukutshintsha, okanye utshintsho, kwijini.Oku kubangela ukuba ijini ekubhekiselwa kuyo iyeke ukusebenza kakuhle. Ngokuqhelekileyo, olu tshintsho lwenzeka kwijini ebizwa ngokuba yi-`FGFR2 (i-fibroblast growth factor receptor)`. Nangona kunjalo, lunokubangelwa lutshintsho kwijini ebizwa ngokuba yi-`FGFR1`. Kwimeko enye, utshintsho olufanayo lufunyenwe nakwijini ye-`FGFR3`.

Ngamafutshane, olu tshintsho lwemfuza luphazamisa unxibelelwano phakathi kweeproteni ezinceda iiseli zikhule (ii-fibroblast growth factors) kunye nee-receptors zazo. Ngenxa yoko, ngexesha lesigaba somntwana osandul’ ukuzalwa, ngaphambi kokuba ingqondo yomntwana ikhule ngokupheleleyo, imithungo phakathi kwamathambo entloko iyavaleka. Emva koko, njengoko ingqondo ikhula, amathambo entloko avaliweyo ayatyhalana, etshintsha imo yawo, aze abangele ukukhula okungaqhelekanga kwiindawo ezahlukeneyo zomzimba.

Olu tshintsho lwemfuza lunokufunyanwa ngomnye wabazali (i-autosomal dominant). Okanye, lunokuba lutshintsho olutsha, olungalindelekanga kwi-DNA yomntwana (i-de novo mutation). Kuye kwabonwa ukuba olu tshintsho olungalindelekanga luqheleke kancinci ukuba utata uneminyaka engaphezu kwama-40-45 ubudala ngexesha lokuzalwa komntwana.

Ichaphazela bani le meko?

I-Pfeiffer Syndrome yimeko engaqhelekanga kakhulu, kodwa inokwenzeka nakubani na. Ayisiyonto enokubangelwa ngumntu ngabom, kwaye ayisiyonto inokuthintelwa. Ngoko ke, kubalulekile ukukwazi oku.

Ifunyanwa njani iPfeiffer Syndrome?

Le meko inokubonwa nangaphambi kokuba umntwana azalwe. Kukho amaxesha apho iingxaki kwinkqubo yamathambo yomntwana zinokubonwa ngexesha lesigaba somntwana ongekazalwa ngokusebenzisa iiskeni ze-ultrasound zokukhulelwa okanye uvavanyo lwe-magnetic resonance imaging (MRI).

Nangona kunjalo, ukuxilongwa kudla ngokuqinisekiswa emva kokuba umntwana ezelwe. Ugqirha unokwenza uvavanyo lomzimba lomntwana aze enze i-computed tomography scan (CT scan) okanye i-MRI ukujonga iingxaki ekhayeni nakwamanye amathambo. Uvavanyo lwe-genetic, olujonga utshintsho kwi-FGFR1 kunye ne-FGFR2 genes, lunokuqinisekisa ukuxilongwa.

Ziziphi iindlela zonyango lwePfeiffer Syndrome?

Unyango lwale meko lusekelwe kwiimpawu. Ugqirha womntwana wakho unokucebisa utyando oluninzi ukulungisa iingxaki zokukhula kwamathambo.

Unyango olukhawulezileyo lutyando lokunciphisa uxinzelelo kwintloko yolusu (craniosynostosis) njengoko ingqondo yomntwana ikhula. Okanye, ukuba ulwelo luqokelelana kwintloko yolusu (hydrocephalus), kufakwa ityhubhu encinci (shunt) entlokweni ukuze kukhutshwe ulwelo. Olu tyando ludla ngokwenziwa ngaphambi kokuba umntwana abe neenyanga ezi-4 ubudala.

Kunyaka wokuqala womntwana, oogqirha banokucebisa ukuba atyandwe ukuze kuvulwe ukhakhayi ukuze ingqondo ikhule.

Emveni kwalonto,Utyando lokulungisa ubuso nolwenziwe ngobuchule lwenziwa ukuze kulungiswe ukungalingani kobuso, kuvulwe imigudu yomoya, kwaye kubuyiselwe imo yentloko.

Into ebalulekileyo kukuba, phantsi kweliso likagqirha womntwana, uninzi lwabantwana abanePfeiffer Syndrome banokuncedwa ukuba bafikelele kwisakhono sabo esipheleleyo.

Ziziphi iindlela zonyango ezikhoyo zokunciphisa iingxaki zePfeiffer Syndrome?

Ukongeza kotyando, kukho unyango lokunciphisa iingxaki zale meko.

• Unyango lwamazinyo kunye nonyango lwamazinyo kwizinto ezinje ngokuxinana kwamazinyo kunye nekhala eligobileyo.
• Unyango lwamehlo olujongene nokuphazamiseka kokubona.
• Ukusetyenziswa kwezixhobo zokuncedisa ukuva kubantu abanengxaki yokuva.

Konke oku kwenzelwa ukunceda umntwana aphile ubomi obuqhelekileyo kangangoko kunokwenzeka.

Ngaba ikho indlela epheleleyo yokunyanga oku?

Ngelishwa, okwangoku akukho nyango lwePfeiffer Syndrome. Utyando kunye nezinye iindlela zonyango zijolise ekunciphiseni iimpawu zomntwana kunye nokumnceda akhule kakuhle.

Yintoni omele uyilindele njengomzali womntwana onePfeiffer Syndrome?

I-Pfeiffer Syndrome yimeko ehlala ubomi bonke engenakunyangeka. Ugqirha womntwana wakho uza kwenza isicwangciso sonyango ukunceda ukulawula iimpawu. Oku kungabandakanya utyando oluninzi.

• Ukuba umntwana wakho une-Type 1 Pfeiffer syndrome, ubomi bakhe bunokuba yinto eqhelekileyo.
• Nangona kunjalo, abantwana abane-Type 2 okanye i-Type 3 Pfeiffer syndrome banokuba neengxaki ezininzi kwaye baphile ubomi obufutshane ukuba abanyangwa .

Ngoko ke, kubaluleke kakhulu ukusa umntwana wakho rhoqo kuhlolo lwempilo yakhe ukuze azi naziphi na iingxaki zempilo okanye zophuhliso anazo njengoko ekhula.

Ngaba ndingayinciphisa ingozi yokuba nomntwana onePfeiffer Syndrome?

Ukuba ulindele umntwana, thetha nogqirha wakho malunga neengcebiso zofuzo kunye novavanyo lwemfuza. Ukuba wena okanye iqabane lakho ninotshintsho lwemfuza lwe-FGFR1 okanye i-FGFR2, kukho umngcipheko we-50% wokuba umntwana wakho uza kulufumana njengelifa. Oku kuthetha ukuba ukuba unomntwana, kukho amathuba angama-50-50 okuba aza kuba nale meko okanye angabi nayo.

Nangona kunjalo, ukuba bobabini abazali abanayo le meko, umngcipheko wokuba umntwana wesibini afumane le meko uphantsi kakhulu. Nangona kunjalo, akunakuthiwa akukho nto ipheleleyo, kuba utshintsho olungaqhelekanga lwemfuza olukhankanyiweyo ngaphambili (de novo mutations) lunokwenzeka.

Ndifanele ndimbone nini ugqirha womntwana wam?

Ukuba umntwana wakho unePfeiffer Syndrome, qaphela oku kulandelayo:

• Ukuba umntwana unengxaki yokuphefumla.
• Ukuba indawo yotyando ayipholi kakuhle, itshintshile umbala, idumbile, okanye inobovu (oku kunokuthetha usulelo).
• Ukuba umntwana akafikeleli kwimigangatho yophuhliso efanelekileyo ngokweminyaka yakhe.
• Ukuba abaphenduli kwimiyalelo elula nethethwayo okanye ukuba bafumana usulelo lweendlebe rhoqo.

Ukuba ubona into efana nale, bonana nogqirha ngokukhawuleza.

Ndingayibuza yiphi imibuzo ugqirha wam?

Kulungile ukubuza imibuzo efana nale:

• Loluphi unyango olufanelekileyo kumntwana wam?
• Ziziphi iingozi ezinxulumene notyando lokunyanga le meko?
• Ukuba ndinomnye umntwana, ngaba kukho umngcipheko wokuba naye afumane esi sifo?

Ukongeza kule mibuzo, buza ugqirha nantoni na ocinga ngayo.

Ngaba umntwana kaPrince naye wayenePfeiffer Syndrome?

Ewe, esi sisiganeko esaziwayo. Kwincwadi yakhe ka-2017, ethi The Most Beautiful: My Life with Prince, uMayte Garcia, umfazi womculi odumileyo uPrince, uchaze indlela umntwana abamfumene ngayo ngo-1996 owayenesifo sePfeiffer syndrome type 2. Ngelishwa, umntwana wasweleka esengumntwana ngenxa yeengxaki ezinzima ezivela kwesi sifo. UGarcia ucacisa ukuba yena noPrince babengenaso esi sifo semfuza, kwaye kukholeleka ukuba umntwana wayesifumene ngenxa yotshintsho olutsha lwemfuza. Oku kubonisa indlela esinzulu ngayo esi sifo kwaye ngamanye amaxesha sinokungaqikeleli.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Pfeiffer Syndrome yimeko yemfuza engaqhelekanga neyinkimbinkimbi. Ingadinga utyando oluninzi ukuze kuncitshiswe iimpawu. Nangona kunjalo, ngonyango olufanelekileyo kunye nolawulo olufanelekileyo lwezonyango, umntwana wakho unokukhula aze afunde njengabanye abantwana. Nangona kunjalo, kukho iingxaki ezithile ekufuneka uzazi.

Ukuba kukho umntu kusapho lwakho onePfeiffer Syndrome, kwaye ulindele umntwana, kubaluleke kakhulu ukufumana ingcebiso ngemfuza. Oku kuya kukunceda uchonge ukuba umntwana wakho usemngciphekweni wokuba nale meko.

Ndiyathemba ukuba olu lwazi luza kukunceda. Khumbula, awuwedwa. Kubaluleke kakhulu ukufumana inkxaso koogqirha kunye nosapho xa ujongene neemeko ezinje.

Isifo sePfeiffer , isifo sePfeiffer, izifo zemfuza, ukhakhayi, i-craniosynostosis, impilo yomntwana, i-FGFR gene, utyando