Ngaba iinkophe zomntwana wakho zinolu hlobo lotshintsho? Masifunde nge (Blepharophimosis Syndrome)!

Ngamanye amaxesha usenokuba uqaphele ukuba iinkophe zeentsana ezincinci zibekwe ngendlela engaqhelekanga. Mhlawumbi ukuvulwa kwamehlo kuncinci, okanye iinkophe zibonakala zigobile. Ukubona into efana nale kunokukwenza woyike kancinci njengomama. Ngamaxesha anjalo, kubaluleke kakhulu ukuba uqaphele le meko siza kuthetha ngayo, oko kukuthi, i-Blepharophimosis Syndrome.

Yintoni i-Blepharophimosis Syndrome? Ngamafutshane...

Le yimeko yemfuza echaphazela indlela ezakheka ngayo iinkophe zakho. Cinga ngayo, iinkophe zethu zezona zinto zibalulekileyo ezikhusela iliso. Ngoko ke, ukuvulwa kwamehlo omntu onesi sifo, oko kukuthi, umsantsa phakathi kwamehlo, kuncinci kunomntu oqhelekileyo. Kwakhona, inkophe ephezulu ibonakala ngathi ziinkophe ezigobileyo . Enye into kukuba ngaphakathi kweliso, oko kukuthi, kwicala lempumlo, ungabona ulusu oluncinci oluvela kwinkophe esezantsi ukuya kwinkophe engentla.

Isizathu soku kukutshintsha kwejini ebizwa ngokuba yi-'FOXL2', okanye njengoko oogqirha beyibiza njalo , utshintsho . Enye into ebalulekileyo kukuba ama-ovari abasetyhini abane-'Blepharophimosis Syndrome' nawo anokuchaphazeleka.

Kukho elinye igama elide elisetyenziswa ngoogqirha kule nto, elithi `Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome`. Ikwabizwa ngokuba yi`BPES` ngamafutshane. Abanye banokuthiwa yi``small eye opening syndrome``. Le yimeko yokuzalwa , nto leyo ethetha ukuba umntwana unokuzibona ezi mpawu xa ezalwa.

Igama elithi "blepharophimosis" libizwa ngokuba yi "bleph-a-ro-phi-mo-sis." Livakala linzima kancinci, akunjalo? Kodwa kulungile oko, masithi nje `BPES` ukuze kube lula.

Ngaba kukho iintlobo zezi? (Iintlobo zeBPES)

Ewe, zimbini iintlobo eziphambili zezi `BPES`. Ziyi -Type I kunye ne -Type II .

Kukho iimpawu ezifanayo kuzo zombini ezi ntlobo:

• Imingxuma yamehlo emincinci kuneqhelekileyo (i-blepharophimosis) .
• Iinkophe ezigobileyo (i-ptosis) .
• Amehlo abekwe kude kakhulu kunesiqhelo (telecanthus) .
• Ulusu olugoqekayo oluya phezulu kwicala elingaphakathi lejwabu elisezantsi, oko kukuthi, ngasempumlweni (epicanthus inversus) .

Ngoku makhe sibone ukuba zeziphi izinto ezahlukeneyo phakathi kwezi ntlobo zimbini.

Uhlobo lwe-BPES I

Ukuba une-BPES type I, inokubangela imeko ebizwa ngokuba yi -Primary Ovarian Insufficiency (POI) . Abanye abantu bakubiza oku ngokuthi "ukusilela kwe-ovarian ngaphambi kwexesha." Ngamafutshane, kuxa ii-ovaries zomfazi ziyeka ukusebenza ngaphambi kwexesha elilindelekileyo.

Uhlobo lwe-BPES II (Uhlobo lwe-BPES II)

Kodwa ukuba uneBPES type II, ayibangeli naziphi na ezinye iingxaki zomzimba wakho, oko kuthetha ezinye iingxaki ezinkulu ezichaphazela umzimba wonke. Iimpawu ezibonakala kakhulu zezo zinxulumene namehlo.

Ixhaphake kangakanani i-blepharophimosis syndrome?

Ehlabathini lonke, le `Blepharophimosis Syndrome` ibonwa ngesantya esimalunga nomntu omnye kwabangama-50,000 abazalwayo . Oku kuthetha ukuba yimeko engaqhelekanga.

Ziziphi iimpawu ze-blepharophimosis syndrome?

Iimpawu zale `Blepharophimosis Syndrome` zichaphazela kakhulu indlela amehlo akho abonakala ngayo. Khumbula iimpawu ezine eziphambili esithethe ngazo ngaphambili:

• Iimbobo ezincinci zamehlo.
• Iinkophe ezigobileyo ( i-Ptosis ).
• Amehlo abekwe ngokubanzi (iTelecanthus).
• Ulusu olugoqekayo olugoqekayo kwiinkophe zangaphakathi ezisezantsi (Iinkophe zangaphakathi ezigoqekayo - Epicanthus Inversus).

Khawucinge nje, ezi mpawu zinokutshintsha kancinci indlela obubonakala ngayo ubuso bomntwana. Kuqhelekile ukuba abazali bakhathazeke xa bebona oku. Kodwa ungakhathazeki, kukho izinto ezinokwenziwa ngale nto.

Ukongeza kwezi mpawu ziphambili, ezinye iimpawu zinokubonwa:

• I-Ectropion (ukujika iliso libheke ngaphandle).
• I-Strabismus, ekwaziwa ngokuba "ngamehlo anqamlezileyo ", yimeko apho amehlo anqamlezileyo.
• I-Amblyopia , ebangelwa kukugoba kwejwabu elivalekileyo elithintela umbono. Ngokuchanekileyo, ijwabu lithintela umbono.
• Iindlebe ezixineneyo , ezikwaziwa ngokuba "ziindlebe zekomityi" okanye "ziindlebe ezigobileyo," zithetha ukuba imiphetho yeendlebe inokuba nemibimbi okanye igoqwe.
• Iindlebe ezisezantsi.
• Ibhulorho ebanzi yempumlo.
• Umsantsa ophakathi kwempumlo nomlebe ongentla mncinci kunesiqhelo.
• Abantu abanohlobo lokuqala bane -primary ovarian insufficiency (POI).

Kutheni oku kusenzeka? Zithini izizathu? (Yintoni ebangela i-blepharophimosis syndrome?)

Eyona nto ibangela le `Blepharophimosis Syndrome` kukutshintsha okanye ukuguqulwa kwezakhi zofuzo ezibizwa ngokuba yi`FOXL2`. Oku kudluliselwa ngeezakhi zofuzo ngendlela elawulayo ye-autosomal .

Ngamafutshane, oku kuthetha ukuba nokuba ngumzali omnye kuphela one-gene etshintshileyo (eguquliweyo), umntwana unokuyifumana njengelifa.Nangona kunjalo, abanye abantu banokuba nale meko okokuqala ngaphandle kokuyifumana njengelifa kubazali babo. Kwiimeko ezinjalo, oogqirha bathi yinguqu "entsha" okanye entsha yemfuza, oko kuthetha ukuba ayizange ifunyanwe njengelifa kumzali ochaphazelekileyo.

Ezinye iingxaki ezinokubakho ngenxa yoku (Zithini iingxaki ze-blepharophimosis syndrome?)

I-blepharophimosis inokuchaphazela umbono wakho . Usengozini enkulu yokuba neempazamo zokungahoyi , ezinokubangela ukulahleka kombono xa ukude okanye kufutshane.

Ngokukodwa, iintsana nabantwana abancinci abane-ptosis enzima (imeko ebizwa ngokuba yi -lazy eye) banokukhula kwimeko ebizwa ngokuba yi-amblyopia . Oku kungenxa yokuba iinkophe ziyayivala imbono yazo, zithintele ingqondo ekufumaneni imiqondiso evela kwelo liso. Ukuba oku akunyangelwa ngokukhawuleza, umbono kwelo liso unokuphazamiseka ngonaphakade.

Ifunyaniswa njani le nto? (Ifunyaniswa njani i-blepharophimosis syndrome?)

Ugqirha wakho unokukrokrela ukuba une-Blepharophimosis Syndrome emva kokubona iimpawu ezine eziphambili zeklinikhi esizixubushile ngaphambili nokwenza uvavanyo lwamehlo. Ingcali yokhathalelo lwamehlo ingenza ezinye okanye zonke ezi vavanyo:

• Uvavanyo lokubona ngamehlo: Oku kuquka ukukucela ukuba ufunde oonobumba kwitshathi. Olu vavanyo lunokunceda ugqirha wakho ukuba abone ukuba uneengxaki zokungajongi kakuhle, ezinje ngokubona kufutshane okanye ukubona kude.
• Uvavanyo lweliso elivilaphayo (i-Amblyopia) kunye ne -strabismus .
• Uvavanyo lwegazi ukuze kujongwe amanqanaba eehomoni zokuzala (ingakumbi ukuba kukho uhlobo lokuQala olurhanelwayo).
• Uvavanyo lwemfuza : Oku kunokuqinisekisa ukuba kukho utshintsho kwimfuza ye-`FOXL2`.

Zithini iindlela zonyango? (Inyangwa njani i-blepharophimosis syndrome?)

I-Blepharophimosis Syndrome idla ngonyango ngotyando ebuntwaneni . Phakathi kweminyaka emi-3 ne-5, kwenziwa utyando lokulungisa iimeko ezibizwa ngokuba yi-epicanthus inversus (ukugoba kolusu lwangaphakathi lweenkophe) kunye ne-telecanthus (amehlo akude kakhulu). Emva koko, malunga nonyaka kamva, ugqirha wenza olunye utyando lokulungisa i-eyelid egobileyo (i-ptosis). Ngamanye amaxesha zonke ezi ntlobo zotyando zinokwenziwa ngaxeshanye, kodwa oku akwenzeki rhoqo.

Olu tyando lwenziwa kungekuphela nje ukuphucula inkangeleko yamehlo, kodwa nokunceda umntwana aphuhle umbono. Kuba ukuba iinkophe zivaliwe, umbono awuyi kukhula kakuhle.

Ukuba une-BPES type I, oko kuthetha ukuba i-Primary Ovarian Insufficiency, ugqirha wakho unokucebisa unyango lokutshintshwa kweehomoni , ingakumbi izongezo ze-estrogen. Nangona kunjalo, kubalulekile ukukhumbula ukuba olu nyango alusombululi ukungabi nabantwana . Kuya kufuneka uxoxe ngale nto nogqirha wezempilo yokuzala.

Ngaba ikho indlela yokuthintela oku ukuba kungenzeki? (Ndingayinciphisa njani ingozi yokuba ne-blepharophimosis syndrome?)

Akukho ndlela ithile yokuthintela i-Blepharophimosis Syndrome, kuba yimeko yemfuza. Nangona kunjalo, ukuba kukho umntu kusapho lwakho onayo le syndrome, kulungile ukuba ucinge ngengcebiso yemfuza ngaphambi kokuba ube nomntwana. Ngale ndlela, ungafunda okungakumbi ngayo kwaye uthethe ngomngcipheko wokuba umntwana wakho ayifumane njengelifa.

Yintoni endinokuyilindela ukuba ndine-blepharophimosis syndrome?

Ukuba une-Blepharophimosis Syndrome, kuya kufuneka uhlolwe amehlo rhoqo . Oku kunokunceda ukujonga ukuba umbono wakho uphilile na kwaye kukho naziphi na ezinye iingxaki.

Ukuba unesifo sohlobo I, kufuneka uthethe nogqirha we-endocrinologist okanye ingcali yezempilo yokuzala malunga neengxaki zehomoni kunye nokuzala.

I-Blepharophimosis Syndrome inokunyangeka, kodwa ayinakunyangwa. Oko kukuthi, nangona utyando lunokubuyisela ukubonakala nokusebenza kwamehlo kwinqanaba elithile, alunakutshintsha unobangela wemfuza osisiseko.

Yeyiphi imibuzo endifanele ndiyibuze kumboneleli wezempilo wam?

Kungcono ukubuza ugqirha wakho imibuzo efana nale:

• Ndifanele ndihlolwe amehlo kangaphi?
• Ngaba ucebisa iingcebiso ngemfuza?
• Zeziphi iingcebiso onokuzinika ukujongana neengxaki zokuzala?
• Ngaphantsi kwaziphi iimeko apho kuya kufuneka uye kwigumbi likaxakeka ngenxa yesi simo?

Yintoni umahluko phakathi kwe-Blepharophimosis intellectual disability syndrome kunye nale?

Oku nako kuyadida kancinci, ngoko ke kulungile ukucacisa. Abantu abanezi meko ezibizwa ngokuba yi-'Blepharophimosis intellectual disability syndromes' banokubona neenkophe ezigobileyo kunye nokuvuleka kwamehlo okuncinci kunesiqhelo. Nangona kunjalo, ababoni 'telecanthus' (amehlo abekwe kude) okanye 'epicanthus inversus' (izimbobo zesikhumba sangaphakathi).

Eyona nto ibalulekileyo kukuba abantu abane-"Blepharophimosis intellectual disability syndromes" bakhula kancinci ngengqondo.Imizekelo yoku ibandakanya iimeko ezibizwa ngokuba yi-'Ohdo syndrome' kunye ne-'Say-Barber-Biesecker-Young-Simpson syndrome.' Izazinzulu ziqikelela ukuba kukho abantu abangaphantsi kwe-1,000 eMelika abanezi syndromes zokukhubazeka kwengqondo.

Nangona kunjalo, abo bane-`Blepharophimosis Syndrome (BPES)` esithetha ngabo abanazo iziphene zengqondo. Lo ngumahluko ophambili.

I-Blepharophimosis Syndrome, okanye i-BPES, yimeko engaqhelekanga ebakho xa umntwana ezalwa. Wena kunye neqela lakho lezonyango ningayilawula kakuhle le meko. Utyando lokulungisa iingxaki zeliso ludla ngokuba yinxalenye yesicwangciso sonyango.

Umyalezo Wokuya Ekhaya

Kulungile, ngoko ke, ngokwezinto esizithethileyo, ndiyathemba ukuba unoluvo oluhle malunga ne-'Blepharophimosis Syndrome'. Khumbula:

• Le yimeko yemfuza , echaphazela kakhulu iinkophe.
• Iimpawu eziphambili ziimbobo zamehlo ezincinci, iinkophe ezigobileyo, amehlo akude, kunye nolusu olugobileyo ngaphakathi.
• Kukho iintlobo ezimbini (`Uhlobo I` kunye`Uhlobo II`) . Kuhlobo I`, ama-ovari nawo anokuchaphazeleka.
• Oku akubanga ukukhubazeka kwengqondo.
• Utyando lunokuphucula inkangeleko kunye nokusebenza kwamehlo.
• Ukuhlolwa kwamehlo rhoqo , kwaye ukuba kuyimfuneko, unyango lweehomoni lubalulekile.

Kuqhelekile ukuziva usoyika kwaye ukhathazekile xa ufumanisa ukuba umntwana wakho unale meko. Kodwa khumbula, awuwedwa. Ngoncedo loogqirha kunye nonyango olufanelekileyo, abantu abaninzi baye bakwazi ukulawula le meko kwaye baphila ubomi obuqhelekileyo. Ngoko ke, hlala uqinile kwaye ufune iingcebiso zonyango ezifunekayo.

I- Blepharophimosis, i-BPES, iiNkophe, Izifo zeMfuzo, i-Ptosis, i-Epicanthus Inversus, Impilo yamehlo