Ingabe izinkophe zengane yakho zinalolu hlobo loshintsho? Ake sifunde nge-(Blepharophimosis Syndrome)!

Ngezinye izikhathi kungenzeka ukuthi uke waphawula ukuthi izinkophe zezingane ezincane zibekwe ngendlela engavamile. Mhlawumbe ukuvulwa kwamehlo kuncane, noma izinkophe zibonakala zigobile. Ukubona into efana nale kungakwenza wesabe kancane njengomama. Ngezikhathi ezinjalo, kubaluleke kakhulu ukuqaphela lesi simo esizokhuluma ngaso, okungukuthi, i-Blepharophimosis Syndrome.

Iyini i-Blepharophimosis Syndrome? Kalula nje...

Lesi yisimo sofuzo esithinta indlela amajwabu akho akheka ngayo. Cabanga ngakho, amajwabu ethu ayingxenye ebaluleke kakhulu evikela iso. Ngakho-ke, ukuvulwa kwamehlo omuntu onalesi sifo, okungukuthi, igebe eliphakathi kwamehlo, kuncane kunomuntu ojwayelekile. Futhi, ijwabu eliphezulu libukeka njengamajwabu alengayo . Enye into ukuthi ngaphakathi kweso, okungukuthi, ohlangothini lwekhala, ungabona ukugoqana okuncane kwesikhumba kusukela ejwabu elingezansi kuya ejwabu elingaphezulu.

Isizathu salokhu ushintsho ku-gene olubizwa ngokuthi 'FOXL2', noma njengoba odokotela bekubiza kanjalo , ukuguquka kwezakhi zofuzo . Enye into ebalulekile ukuthi ama-ovari abesifazane abanale 'Blepharophimosis Syndrome' nawo angathinteka.

Kukhona elinye igama elide odokotela abalisebenzisayo kulokhu, elithi `Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome`. Libizwa nangokuthi `BPES` ngamafuphi. Abanye bangase bakubize nangokuthi ``small eye opening syndrome.`` Lesi yisimo sokuzalwa , okusho ukuthi ingane ingazibona lezi zimpawu lapho izalwa.

Igama elithi "blepharophimosis" libizwa ngokuthi "bleph-a-ro-phi-mo-sis." Kuzwakala kuyinkimbinkimbi kancane, akunjalo? Kodwa kulungile lokho, ake sithi nje `BPES` ukuze kube lula.

Ingabe zikhona izinhlobo zalokhu? (Izinhlobo ze-BPES)

Yebo, kunezinhlobo ezimbili eziyinhloko zalezi `BPES`. Ziyi -Type I kanye ne -Type II .

Kunezinye izici ezifanayo zazo zombili izinhlobo:

• Izimbobo zamehlo ezincane kunezivamile (i-blepharophimosis) .
• Amajwabu amehlo alengayo (i-ptosis) .
• Amehlo aqhelelene kakhulu kunokujwayelekile (telecanthus) .
• Isikhumba esigoqekayo esigoqekayo phezulu ohlangothini olungaphakathi lwejwabu leso elingezansi, okungukuthi, ngasekhaleni (i-epicanthus inversus) .

Manje ake sibone ukuthi yimiphi umehluko oqondile phakathi kwalezi zinhlobo ezimbili.

Uhlobo lwe-BPES I

Uma une-BPES type I, ingabangela isimo esibizwa ngokuthi i-Primary Ovarian Insufficiency (POI) . Abanye abantu bakubiza nangokuthi "ukwehluleka kwe-ovarian ngaphambi kwesikhathi." Kalula nje, yilapho ama-ovarian wesifazane eyeka ukusebenza ngaphambi kwesikhathi esilindelekile.

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

Kodwa uma une-BPES type II, ayibangeli ezinye izinkinga zomzimba emzimbeni wakho, okusho ezinye izinkinga ezinkulu ezithinta umzimba wonke. Izimpawu kuphela ezibonakala kakhulu yilezo ezihlobene namehlo.

Ivame kangakanani i-blepharophimosis syndrome?

Emhlabeni wonke, lesi 'Sifo se-Blepharophimosis' sibonakala ngesilinganiso sokuzalwa okungu-1 kwabangu-50,000 . Lokhu kusho ukuthi kuyisimo esingavamile.

Yiziphi izimpawu ze-blepharophimosis syndrome?

Izimpawu zalesi 'Blepharophimosis Syndrome' zithinta kakhulu ukubukeka kwamehlo akho. Khumbula izimpawu ezine eziyinhloko esikhulume ngazo ngaphambili:

• Izimbobo ezincane zamehlo.
• Amajwabu amehlo alengayo ( i-Ptosis ).
• Amehlo abekwe kabanzi (iTelecanthus).
• Isikhumba esigoqekayo esigoqekayo emajwabu amehlo angaphansi angaphakathi (Amajwabu amehlo angaphansi angaphakathi agoqekayo - i-Epicanthus Inversus).

Cabanga nje, lezi zimpawu zingashintsha ukubukeka kobuso bomntwana kancane. Kuvamile ngabazali ukuzizwa bekhathazekile uma bebona lokhu. Kodwa ungakhathazeki, kunezinto ezingenziwa ngalokhu.

Ngaphezu kwalezi zici eziyinhloko, ezinye izici zingabonakala:

• I-Ectropion (ukuphendula inhlamvu yeso ngaphandle).
• I-Strabismus, eyaziwa nangokuthi "amehlo ahlanganisiwe ", yisimo lapho amehlo ehlanganiswa khona.
• I-Amblyopia , ebangelwa yijwabu eligobile elivimba umbono. Uma sikhuluma iqiniso, ijwabu livimba umbono.
• Izindlebe ezicijile , ezaziwa nangokuthi "izindlebe zendebe" noma "izindlebe ezigobile," zisho ukuthi imiphetho yezindlebe ingase ibe nemibimbi noma igoqwe phansi.
• Izindlebe eziphansi.
• Ibhuloho elibanzi lekhala.
• Isikhala esiphakathi kwekhala nodebe olungaphezulu sincane kunesijwayelekile.
• Abantu abanohlobo lokuqala bane -primary ovarian insufficiency (POI).

Kungani lokhu kwenzeka? Ziyini izimbangela? (Yini ebangela i-blepharophimosis syndrome?)

Imbangela eyinhloko yalesi 'Blepharophimosis Syndrome' ukushintshashintsha noma ukuguquka kwezakhi zofuzo okuthiwa 'FOXL2'. Lokhu kudluliswa ngamazakhi zofuzo ngendlela elawulayo ye-autosomal .

Kalula nje, lokhu kusho ukuthi noma ngabe umzali oyedwa kuphela onalesi sakhi sofuzo esishintshiwe (esiguquliwe), ingane ingasizuza njengefa.Kodwa-ke, abanye abantu bangaba nalesi simo okokuqala, noma ngabe abazange basithole njengefa kubazali babo. Ezimweni ezinjalo, odokotela bathi kuyinguquko "entsha" noma entsha yezakhi zofuzo, okusho ukuthi asizange sitholwe njengefa kumzali othintekile.

Ezinye izinkinga ezingase zivele ngenxa yalokhu (Yiziphi izinkinga ze-blepharophimosis syndrome?)

I-blepharophimosis ingathinta umbono wakho . Usengozini enkulu yokuthola amaphutha okubona , angabangela ukulahlekelwa umbono kude noma eduze.

Ikakhulukazi, izinsana nezingane ezincane ezine-ptosis enzima (isimo esibizwa ngokuthi i-lazy eye) zingaba nesimo esibizwa ngokuthi i-amblyopia . Lokhu kungenxa yokuthi izinkophe zivimba ukubona kwazo, zivimbele ubuchopho ekutholeni izimpawu ezivela kulelo liso. Uma lokhu kungelashwa ngokushesha, ukubona kulelo liso kungaphazamiseka unomphela.

Kuhlonzwa kanjani lokhu? (Ihlonzwa kanjani i-blepharophimosis syndrome?)

Udokotela wakho angase asole ukuthi une-Blepharophimosis Syndrome ngemva kokubona izimpawu ezine eziyinhloko zezokwelapha esixoxe ngazo ekuqaleni nokwenza ukuhlolwa kwamehlo. Uchwepheshe wokunakekelwa kwamehlo angenza ezinye noma zonke lezi zivivinyo:

• Ukuhlolwa kokubona kahle: Lokhu kuhilela ukukucela ukuthi ufunde izinhlamvu eshadini. Lokhu kuhlolwa kungasiza udokotela wakho ukuthi anqume ukuthi unamaphutha okuqonda, njengokubona eduze noma ukubona kude.
• Ukuhlolwa kwamehlo avilaphayo (i-Amblyopia) kanye ne -strabismus .
• Ukuhlolwa kwegazi kwamazinga ama-hormone okuzala (ikakhulukazi uma kusolwa uhlobo I).
• Ukuhlolwa kwezakhi zofuzo : Lokhu kungaqinisekisa ukuthi kukhona yini ukuguquka kwezakhi zofuzo ze-`FOXL2`.

Yiziphi izindlela zokwelapha? (Iphathwa kanjani i-blepharophimosis syndrome?)

I-Blepharophimosis Syndrome ivame ukwelashwa ngokuhlinzwa ebuntwaneni . Phakathi kweminyaka engu-3 no-5, kwenziwa ukuhlinzwa ukuze kulungiswe izimo ezibizwa ngokuthi i-epicanthus inversus (ukugoba kwesikhumba sangaphakathi sejwabu) kanye ne-telecanthus (amehlo aqhelelene kakhulu). Bese kuthi, cishe ngemva konyaka, udokotela ohlinzayo enze olunye ukuhlinzwa ukuze alungise ijwabu eligobile (i-ptosis). Ngezinye izikhathi zonke lezi zinqubo zokuhlinzwa zingenziwa ngesikhathi esisodwa, kodwa lokhu akuvamile.

Lokhu kuhlinzwa akwenziwa nje kuphela ukuthuthukisa ukubukeka kwamehlo, kodwa futhi nokusiza umbono wengane ukuthi ukhule. Ngoba uma izinkophe zivaliwe, umbono ngeke ukhule kahle.

Uma une-BPES type I, okusho ukuthi i-Primary Ovarian Insufficiency, udokotela wakho angase asikisele ukwelashwa kokufaka ama-hormone esikhundleni sawo , ikakhulukazi izithasiselo ze-estrogen. Kodwa-ke, kubalulekile ukukhumbula ukuthi lezi zindlela zokwelapha azixazululi ukungabi nabantwana . Kufanele uxoxe ngalokhu nochwepheshe wezempilo yokuzala.

Ingabe ikhona indlela yokuvimbela lokhu ukuthi kungenzeki? (Ngingayinciphisa kanjani ingozi yami yokuthola i-blepharophimosis syndrome?)

Ayikho indlela ethile yokuvimbela i-Blepharophimosis Syndrome, njengoba kuyisimo sofuzo. Kodwa-ke, uma othile emndenini wakho enalesi sifo, kungumqondo omuhle ukucabangela ukwelulekwa ngofuzo ngaphambi kokuba ube nomntwana. Ngale ndlela, ungafunda kabanzi ngaso futhi ukhulume ngengozi yokuthi ingane yakho isithole njengefa.

Yini engingayilindela uma ngine-blepharophimosis syndrome?

Uma une-Blepharophimosis Syndrome, kuzodingeka uhlolwe amehlo njalo . Lokhu kungasiza ekuhloleni ukuthi umbono wakho uphilile yini nokuthi kukhona yini ezinye izinkinga.

Uma unesifo sohlobo I, kufanele ukhulume nodokotela we-endocrinologist noma uchwepheshe wezempilo yokuzala mayelana nezinkinga zama-hormone kanye nokuzala.

I-Blepharophimosis Syndrome ingelashwa, kodwa ayinakwelapheka. Okusho ukuthi, nakuba ukuhlinzwa kungabuyisela ukubukeka nokusebenza kwamehlo ngezinga elithile, akunakushintsha imbangela yezakhi zofuzo eyisisekelo.

Yimiphi imibuzo okufanele ngiyibuze umhlinzeki wami wezempilo?

Kungumqondo omuhle ukubuza udokotela wakho imibuzo efana nale:

• Kufanele ngihlolwe amehlo kangaki?
• Ingabe uncoma ukwelulekwa ngofuzo?
• Yiziphi iziphakamiso ongazinikeza ukubhekana nezinkinga zokuzala?
• Kungaphansi kwaziphi izimo lapho kuzodingeka uye ekamelweni eliphuthumayo ngenxa yalesi simo?

Uyini umehluko phakathi kwe-blepharophimosis intellectual disability syndrome nalokhu?

Lokhu futhi kuyadida kancane, ngakho-ke kuhle ukucacisa. Abantu abanezimo ezibizwa ngokuthi 'i-Blepharophimosis intellectual disability syndromes' bangabona nezinkophe ezigobile kanye nezimbobo ezincane kunezivamile zamehlo. Kodwa-ke, ababoni 'i-telecanthus' (amehlo aqhelelene kakhulu) noma 'i-epicanthus inversus' (izimbobo zesikhumba sangaphakathi).

Into ebaluleke kakhulu ukuthi abantu abane-'Blepharophimosis intellectual disorder syndromes' bathuthuka kancane ngokwengqondo.Izibonelo zalokhu zifaka phakathi izimo ezibizwa ngokuthi i-'Ohdo syndrome' kanye ne-'Say-Barber-Biesecker-Young-Simpson syndrome.' Ososayensi balinganisela ukuthi kunabantu abangaphansi kwe-1,000 e-United States abanalezi zimpawu zokukhubazeka kwengqondo.

Kodwa-ke, labo abane-'Blepharophimosis Syndrome (BPES)' esikhuluma ngabo abanakho ukukhubazeka kwengqondo. Lona umehluko omkhulu.

I-Blepharophimosis Syndrome, noma i-BPES, yisimo esingavamile esiba khona lapho uzalwa. Wena nethimba lakho lezokwelapha ningasiphatha kahle lesi simo. Ukuhlinzwa ukuze kulungiswe izinkinga zejwabu leso ngokuvamile kuyingxenye yohlelo lokwelashwa.

Umlayezo Wokuya Nawe Ekhaya

Kulungile, ngakho-ke, kulokho esikuxoxile, ngithemba ukuthi unombono omuhle nge-'Blepharophimosis Syndrome'. Khumbula:

• Lesi yisimo sofuzo , esithinta kakhulu amehlo.
• Izimpawu eziyinhloko ukuvuleka kwamehlo amancane, izinkophe ezigobile, amehlo aqhelelene, kanye nokugoqeka kwesikhumba ngaphakathi.
• Kunezinhlobo ezimbili (`Uhlobo I` kanye `Uhlobo II`) . Ku-`Uhlobo I`, ama-ovari nawo angathinteka.
• Lokhu akubanga ukukhubazeka kwengqondo.
• Ukuhlinzwa kungathuthukisa ukubukeka nokusebenza kwamehlo.
• Ukuhlolwa kwamehlo njalo , futhi uma kudingeka, ukwelashwa ngama-hormone kubalulekile.

Kuvamile ukuzizwa wesaba futhi ukhathazekile uma uthola ukuthi ingane yakho inalesi simo. Kodwa khumbula, awuwedwa. Ngosizo lodokotela kanye nokwelashwa okufanele, abantu abaningi bakwazile ukuphatha lesi simo futhi baphile impilo ejwayelekile. Ngakho-ke, hlala uqinile futhi ufune iseluleko sezokwelapha esidingekayo.

I- Blepharophimosis, i-BPES, amajwabu amehlo, izifo zofuzo, i-Ptosis, i-Epicanthus Inversus, impilo yamehlo