So wo ba no ani so wɔ nsakrae a ɛte sɛɛ? Momma yensua (Blepharophimosis Syndrome) ho ade!

Ɛtɔ da bi a, ebia woahyɛ no nsow sɛ nkokoaa nkumaa aniwa anim no si hɔ wɔ ɔkwan a ɛyɛ nwonwa so. Ebia aniwa a abue no sua, anaasɛ ɛte sɛ nea aniwa no ano ahwe ase. Sɛ wuhu biribi a ɛte sɛɛ a, ebetumi ama woasuro kakra sɛ ɛna. Wɔ mmere a ɛte saa mu no, ɛho hia yiye sɛ yehu tebea a yɛrebɛka ho asɛm yi, kyerɛ sɛ, Blepharophimosis Syndrome.

Dɛn ne Blepharophimosis Syndrome? Sɛ yɛbɛka no tiawa a...

Eyi yɛ awosu mu tebea a ɛka ɔkwan a w’aniwa yɛ no. Susuw ho hwɛ, yɛn aniwa anim ne ade a ɛho hia sen biara a ɛbɔ aniwa no ho ban. Enti, obi a ɔwɔ saa yare yi aniwa a wobue, kyerɛ sɛ, ɔkwan a ɛda aniwa ntam no yɛ teateaa sen obi a ɔte ase. Afei nso, aniwa a ɛwɔ soro no te sɛ aniwa a ahwe ase . Ade foforo nso ne sɛ, wɔ aniwa no mu, kyerɛ sɛ, hwene no fã no, wubetumi ahu honam ani fã ketewaa bi a wɔabobɔw afi aniwa no ase akosi aniwa no atifi.

Nea enti a ɛte saa ne nsakrae a ɛba awosu mu abɔde a wɔfrɛ no `FOXL2`, anaa sɛnea nnuruyɛfo frɛ no no , nkwaadɔm mu nsakrae . Ade foforo a ɛho hia ne sɛ mmea a wɔwɔ saa `Blepharophimosis Syndrome` yi awotwaa nso betumi aka.

Edin tenten foforo bi wɔ hɔ a nnuruyɛfo de di dwuma ma eyi, a ɛne `Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome`. Wɔsan frɛ no `BPES` tiawa. Ebinom nso betumi afrɛ no ``small eye opening syndrome.`` Eyi yɛ awo mu tebea , a ɛkyerɛ sɛ akokoaa no tumi hu saa sɛnkyerɛnne ahorow yi wɔ awo mu.

Wɔbɔ asɛmfua "blepharophimosis" no "bleph-a-ro-phi-mo-sis." Ɛte sɛ nea ɛyɛ den kakra, ɛnte saa? Nanso ɛnyɛ hwee, momma yɛnka sɛ `BPES` kɛkɛ sɛnea ɛbɛyɛ a ɛbɛyɛ mmerɛw.

So eyi ahorow bi wɔ hɔ? (BPES ahorow) .

Yiw, saa `BPES` yi ahorow atitiriw abien na ɛwɔ hɔ. Wɔn ne Type I ne Type II .

Su ahorow bi wɔ hɔ a ɛtaa ba wɔ ahorow abien no nyinaa mu:

• Aniwa a ɛbue a ɛyɛ nketewa sen sɛnea ɛte daa (blepharophimosis) .
• Aniwa a ɛrehwe ase (ptosis) .
• Aniwa a ɛda nsow kɛse sen sɛnea ɛte daa (telecanthus) .
• Wora a ɛbobɔw kɔ soro wɔ aniwa no ase fã a ɛwɔ mu, kyerɛ sɛ, ɛkɔ hwene no ho (epicanthus inversus) .

Afei ma yɛnhwɛ nsonsonoe pɔtee a ɛda saa ahorow abien yi ntam.

BPES Ɔkwan a wɔfa so yɛ I

Sɛ wowɔ BPES type I a, ebetumi ama woanya tebea bi a wɔfrɛ no Primary Ovarian Insufficiency (POI) . Nnipa binom nso frɛ eyi " ovarian failure ntɛm." Sɛ yɛbɛka no tiawa a, ɛyɛ bere a ɔbea bi mmadwoa gyae adwumayɛ ansa na bere a wɔhwɛ kwan no adu.

BPES Ɔkwan II (BPES Ɔkwan II) .

Nanso sɛ wowɔ BPES type II a, ɛmma nhyehyɛe mu haw foforo biara mma wo nipadua no mu, a ɛkyerɛ ɔhaw atitiriw afoforo a ɛka nipadua no nyinaa. Nsɛnkyerɛnne a wohu titiriw ne nea ɛfa aniwa ho nkutoo.

Blepharophimosis syndrome abu so dɛn?

Wɔ wiase nyinaa no, wohu saa `Blepharophimosis Syndrome` yi bɛyɛ awo 50,000 biara mu 1 . Eyi kyerɛ sɛ ɛyɛ tebea a ɛntaa nsi kakra.

Dɛn ne sɛnkyerɛnne ne sɛnkyerɛnne ahorow a ɛkyerɛ sɛ obi anya blepharophimosis syndrome?

Saa `Blepharophimosis Syndrome` yi ho sɛnkyerɛnne no ka w'aniwa hwɛbea titiriw. Kae sɛnkyerɛnne atitiriw anan a yɛadi kan aka ho asɛm no:

• Aniwa nketenkete a wɔde bue.
• Aniwa a ɛrehwe ase ( Ptosis ).
• Aniwa a wɔde asi hɔ kɛse (Telecanthus).
• Wora a ɛyɛ mmerɛw a ɛbobɔw kɔ soro wɔ aniwa a ɛwɔ fam a ɛwɔ mu no so (Inner lower eyelids that fold up - Epicanthus Inversus).

Susuw ho hwɛ, saa sɛnkyerɛnne ahorow yi betumi asesa sɛnea akokoaa no anim te kakra. Ɛyɛ ade a ɛfata sɛ awofo te nka sɛ wɔhaw bere a wohu eyi no. Nanso mma ɛnhaw wo, nneɛma bi wɔ hɔ a wobetumi ayɛ wɔ eyi ho.

Wɔ nneɛma atitiriw yi akyi no, wobetumi ahu nneɛma afoforo bi:

• Ectropion (aniwa no a ɛdannan kɔ abɔnten).
• Strabismus, a wɔsan frɛ no "aniwa a wɔatwa ", yɛ tebea a ɛma aniwa no twam.
• Amblyopia , a ɛnam aniwa a ɛhwe ase a esiw aniwa so na ɛba. Sɛ yɛbɛka no pɛpɛɛpɛ a, aniwa no siw aniwa no kwan.
• Constricted ears , a wɔsan frɛ no "cup ears" anaa "lop ears," kyerɛ sɛ ebia aso no anoano ayɛ nsensanee anaasɛ wɔabobɔw akɔ fam.
• Aso a ɛba fam a wɔde ahyɛ mu.
• Hwene no mu bridge a ɛtrɛw.
• Ɔkwan a ɛda hwene ne anofafa a ɛwɔ soro ntam no sua sen sɛnea ɛte daa.
• Nnipa a wɔwɔ type I no wɔ primary ovarian insufficiency (POI).

Dɛn nti na eyi ba? Dɛn na ɛde ba? (Dɛn na ɛde blepharophimosis syndrome ba?)

Nea ɛde saa `Blepharophimosis Syndrome` yi ba titiriw ne nsakrae anaa nsakrae a ɛba awosu mu abɔde bi a wɔfrɛ no `FOXL2` mu. Eyi nam awosu mu nkwaadɔm so na ɛba wɔ ɔkwan a ɛyɛ autosomal dominant so.

Sɛ yɛbɛka no tiawa a, eyi kyerɛ sɛ sɛ ɔwofo biako pɛ na ɔwɔ saa awosu mu abɔde a wɔasesa (wɔasakra no) yi mpo a, abofra no betumi anya bi.Nanso, nnipa binom tumi nya tebea no nea edi kan a wonnya bi mfi wɔn awofo hɔ. Wɔ tebea horow a ɛtete saa mu no, nnuruyɛfo ka sɛ ɛyɛ awosu mu nsakrae "foforo" anaa foforo, a ɛkyerɛ sɛ wɔannya amfi ɔwofo a ɔyare no aka no hɔ.

Ɔhaw afoforo a ebetumi aba esiane eyi nti (Dɛn ne nsɛnnennen a ɛba wɔ blepharophimosis syndrome mu?)

Blepharophimosis betumi aka w'ani so . Wowɔ asiane kɛse mu sɛ wubenya refractive errors , a ebetumi ama woahwere w’ani so wɔ akyirikyiri anaa baabi a ɛbɛn hɔ.

Titiriw no, nkokoaa ne mmofra nkumaa a wɔwɔ ptosis a emu yɛ den (tebea a wɔfrɛ no aniwa a ɛyɛ ɔkwasea) betumi anya tebea bi a wɔfrɛ no amblyopia . Nea enti a ɛte saa ne sɛ aniwa no siw wɔn ani so, na ɛmma amemene no nnya nsɛnkyerɛnne a efi saa aniwa no hɔ no. Sɛ wɔansa eyi ntɛm a, saa aniwa no mu anisoadehu betumi asɛe koraa.

Ɔkwan bɛn so na wohu eyi? (Ɔkwan bɛn so na wohu blepharophimosis syndrome?)

Ebia wo duruyɛfo besusuw sɛ wowɔ Blepharophimosis Syndrome bere a wahu ayaresabea sɛnkyerɛnne atitiriw anan a yɛadi kan aka ho asɛm no na wayɛ aniwa mu nhwehwɛmu akyi. Aniwa ho ɔbenfo betumi ayɛ nhwehwɛmu ahorow yi bi anaa ne nyinaa:

• Visual acuity test: Nea ɛka eyi ho ne sɛ wobɛka akyerɛ wo sɛ kenkan nkyerɛwde a ɛwɔ nhyehyɛe bi so. Saa nhwehwɛmu yi betumi aboa wo duruyɛfo ma wahu sɛ ebia wowɔ mfomso ahorow a ɛma wotumi hu ade, te sɛ nea wutumi hu ade yiye anaasɛ wutumi hu ade akyirikyiri anaa.
• Nhwehwɛmu a wɔyɛ de hu aniwa a ɛyɛ ɔkwasea (Amblyopia) ne strabismus .
• Mogya mu nhwehwɛmu a wɔyɛ de hu awo mu ahoɔdennuru dodow (titiriw sɛ wosusuw sɛ ɛyɛ ɔkwan a edi kan a).
• Awosu mu nhwehwɛmu : Eyi betumi asi so dua sɛ ebia nkwaadɔm mu nsakrae bi wɔ `FOXL2` awosu mu nkwaadɔm no mu anaa.

Dɛn ne ayaresa ahorow no? (Ɔkwan bɛn so na wɔsa blepharophimosis syndrome?)

Wɔtaa de oprehyɛn sa Blepharophimosis Syndrome wɔ mmofraase . Wɔ mfe 3 kosi 5 ntam no, wɔyɛ oprehyɛn de siesie tebea horow a wɔfrɛ no epicanthus inversus (aniwa a ɛwɔ mu no honam ani a wɔbobɔw) ne telecanthus (aniwa a ɛne ne ho ntam kwan ware) no. Afei, bɛyɛ afe akyi no, oduruyɛfo bi yɛ oprehyɛn foforo de siesie aniwa a ahwe ase (ptosis). Ɛtɔ mmere bi a, wobetumi ayɛ oprehyɛn ahorow yi nyinaa bere koro mu, nanso eyi ntaa mma.

Ɛnyɛ sɛ wɔyɛ oprehyɛn ahorow yi na ama aniwa no ayɛ fɛ nko, na mmom wɔde boa abofra no anisoadehu nso. Efisɛ sɛ wɔto aniwa no mu a, anisoadehu renkɔ so yiye.

Sɛ wowɔ BPES type I, a ɛkyerɛ Primary Ovarian Insufficiency a, ebia wo duruyɛfo bɛkyerɛ sɛ wɔmfa hormone replacement therapy , titiriw estrogen a wɔde ka ho. Nanso, ɛho hia sɛ yɛkae sɛ saa ayaresa ahorow yi ntumi nni awo a wontumi nwo ho dwuma . Ɛsɛ sɛ wo ne awo akwahosan ho ɔbenfo bi susuw eyi ho.

So ɔkwan bi wɔ hɔ a wɔbɛfa so asiw eyi ano? (Mɛyɛ dɛn atumi atew asiane a ɛwɔ hɔ sɛ menya blepharophimosis syndrome no so?)

Ɔkwan pɔtee biara nni hɔ a wɔbɛfa so asiw Blepharophimosis Syndrome ano, efisɛ ɛyɛ awosu mu tebea. Nanso, sɛ obi a ɔwɔ w’abusua mu wɔ saa yare no a, ɛbɛyɛ papa sɛ wususuw awosu mu afotu ho ansa na woawo. Saa kwan yi so no, wubetumi asua ho ade pii na woaka asiane a ɛwɔ hɔ sɛ wo ba no benya afi awo mu no ho asɛm.

Sɛ mewɔ blepharophimosis syndrome a, dɛn na metumi ahwɛ kwan?

Sɛ wowɔ Blepharophimosis Syndrome a, ɛho behia sɛ woyɛ w’ani mu nhwehwɛmu daa . Eyi betumi aboa ma woahwɛ sɛ w’aniwa yɛ yiye anaa, na sɛ ɔhaw afoforo bi wɔ hɔ anaa.

Sɛ wowɔ type I a, ɛsɛ sɛ wo ne endocrinologist anaa awo akwahosan ho ɔbenfo kasa fa hormone ne awo ho nsɛm ho.

Wobetumi asa Blepharophimosis Syndrome, nanso wontumi nsa. Ɛne sɛ, ɛwom sɛ oprehyɛn betumi ama aniwa no asan ayɛ fɛ na ayɛ adwuma akodu baabi de, nanso entumi nsakra awosu mu ade a ɛde ba no.

Nsɛmmisa bɛn na ɛsɛ sɛ mibisa m’akwahosan ho ɔyaresafo?

Ɛyɛ papa sɛ wubebisa wo duruyɛfo nsɛm te sɛ eyinom:

• Mpɛn ahe na ɛsɛ sɛ mehwɛ m’ani?
• So wokamfo awosu ho afotu kyerɛ?
• Nyansahyɛ bɛn na wubetumi de ama de adi awo ho haw ahorow ho dwuma?
• Tebea bɛn mu na ebehia sɛ wokɔ baabi a wɔhwɛ wɔn a wɔwɔ ayaresa a egye ntɛmpɛ mu esiane tebea yi nti?

Nsonsonoe bɛn na ɛda Blepharophimosis adwene mu dɛmdi ne eyi ntam?

Eyi nso yɛ basaa kakra, enti eye sɛ yɛbɛma emu ada hɔ. Nnipa a wɔwɔ tebea horow a wɔfrɛ no `Blepharophimosis intellectual disability syndromes` nso tumi hu aniwa a ɛrehwe ase ne aniwa a ɛyɛ nketewa sen sɛnea ɛte daa. Nanso, wonhu `telecanthus` (aniwa a wɔde asi hɔ akyirikyiri) anaa `epicanthus inversus` (honam ani a wɔabɔ no mu).

Adeɛ a ɛho hia paa ne sɛ nnipa a wɔwɔ `Blepharophimosis intellectual disability syndromes` no adwene mu nkɔsoɔ yɛ brɛoo.Eyi ho nhwɛso ahorow bi ne tebea horow a wɔfrɛ no `Ohdo syndrome` ne `Say-Barber-Biesecker-Young-Simpson syndrome.` Nyansahufo bu akontaa sɛ nnipa a wɔwɔ saa adwene mu dɛmdi ahorow yi nnu 1,000 wɔ United States.

Nanso, wɔn a wɔwɔ `Blepharophimosis Syndrome (BPES)` a yɛreka ho asɛm no nni adwene mu dɛmdi. Eyi ne nsonsonoe titiriw no.

Blepharophimosis Syndrome, anaa BPES, yɛ tebea a ɛntaa nsi a ɛba bere a wɔawo no. Wo ne w’aduruyɛfo kuw no betumi adi tebea yi ho dwuma yiye. Mpɛn pii no, oprehyɛn a wɔyɛ de siesie aniwa no ho haw ahorow no yɛ ayaresa nhyehyɛe no fã.

Nkrasɛm a Wɔde Kɔ Fie

Okay, enti, ɛfiri deɛ yɛaka ho asɛm no mu no, mewɔ anidasoɔ sɛ woanya adwene pa wɔ `Blepharophimosis Syndrome` ho. Kae:

• Eyi yɛ awosu mu tebea , a ɛka aniwa anim titiriw.
• Nsɛnkyerɛnne titiriw ne aniwa nketenkete a ɛbue, aniwa a ɛhwe ase, aniwa a ɛkɔ akyirikyiri, ne honam ani a ɛyɛ mmerɛw wɔ mu.
• Nneɛma abien na ɛwɔ hɔ (`Type I` ne `Type II`) . Wɔ `Type I` mu no, ovaries nso betumi anya nkɛntɛnso.
• Eyi mma adwene mu dɛmdi mma.
• Oprehyɛn betumi ama aniwa no ayɛ fɛ na ayɛ adwuma yiye.
• Aniwa mu nhwehwɛmu a wɔyɛ no daa ne sɛ ɛho hia a, hormone ayaresa ho hia.

Ɛyɛ ade a ɛfata sɛ wobɛte ehu ne dadwen nka bere a wuhu sɛ wo ba no wɔ saa tebea yi no. Nanso kae sɛ ɛnyɛ wo nko ara. Ɛdenam nnuruyɛfo ne ayaresa a ɛfata mmoa so no, nnipa pii atumi adi tebea yi ho dwuma na wɔabɔ wɔn bra sɛnea ɛsɛ. Enti, kɔ so nyɛ den na hwehwɛ aduruyɛ mu afotu a ɛho hia.

` Blepharophimosis, BPES, Aniwa anim, Awosu mu Nyarewa, Ptosis, Epicanthus Inversus, Aniwa Akwahosan