So wo ba kumaa no wɔ saa yare a ɛyɛ nwonwa yi? - ma yensua Lesch-Nyhan Syndrome ho ade

So wo ba kumaa no pira ne ho? So woahu sɛ ɔreka n’ano, aka ne nsateaa, anaa wabɔ ne ti wɔ baabi pɛn? Sɛ ɛba saa a, ɛyɛ ade a ɛfata sɛ wo, sɛ ɛna anaa agya, bɛte ehu ne dadwen kɛse nka. Ɛnnɛ yɛrebɛka tebea a emu yɛ den saa, nanso ɛntaa nsi koraa a wɔfrɛ no Lesch-Nyhan Syndrome ho asɛm. Mewɔ anidaso sɛ sɛ wokenkan eyi wie a, wubenya eyi ho ntease a emu da hɔ.

Dɛn ne Lesch-Nyhan Yare no? Momma yɛnte ase kɛkɛ!

Sɛ yɛbɛka no tiawa a, Lesch-Nyhan Syndrome (LNS) yɛ tebea a ɛntaa nsi koraa a ɛba bere a wɔawo no . Ɛka abofra amemene ne ne nneyɛe titiriw. Sɛnea yɛadi kan aka no, yare yi ho sɛnkyerɛnne titiriw ne nea emu yɛ den sen biara no mu biako ne abofra no a obepira ne ho a ontumi nni so. Ɛno kyerɛ nneɛma te sɛ wɔn anofafa a wɔbɛka, wɔn nsateaa a wɔbɛka, anaasɛ wɔn ti a wɔbɛbɔ wɔ nneɛma te sɛ ɔfasu ho. Wo de susuw sɛnea abofra kumaa bi te yaw kɛse bere a wɔyɛ saa no ho hwɛ.

Saa yare yi ma uric acid a ɛyɛ nwura a ɛwɔ yɛn nipadua mu a ɛwɔ abɔde mu no kɔ soro . Nhwehwɛmufo susuw sɛ LNS nso ka nnuru a ɛyɛ ɔbɔfo dopamine a ɛho hia na ama amemene no ayɛ adwuma yiye no dodow.

Mmofra a wɔwɔ saa tebea yi, LNS, betumi anya ntini mu yare a emu yɛ den a ɛyɛ yaw a wɔfrɛ no gout . Ebia wɔwɔ dystonia ne adwene mu yare nso.

Nea ɛyɛ awerɛhow no, wonni aduru biara a wɔde sa Lesch-Nyhan yare no. Nkɔmhyɛ no nyɛ papa. Nanso, sɛ wɔsa wo ba no yare a ɛfata a, wotumi siw yare no ho sɛnkyerɛnne so, nsɛnnennen no so tew, na asetra pa betumi atu mpɔn akodu baabi.

Hena na onya Lesch-Nyhan Syndrome?

Lesch-Nyhan yare no yɛ nipadua mu nneɛma a ɛsakra a wonya fi awo mu. Mpɛn pii no, efi ɛna hɔ kɔ ɔba nkyɛn. Ɛntaa nsi koraa wɔ mmeawa mu.

Nanso, ɛtɔ da bi a, sɛ mpo obiara nni abusua no mu nnyaa saa awosu mu yare yi pɛn a, saa `LNS` tebea yi nso betumi aba esiane nsakrae a ɛba mpofirim `(mutation)` wɔ awosu mu abɔde pɔtee bi `(HPRT1 gene)` mu bere a abofra no renyin wɔ awotwaa mu no nti. `Awosu mu nhwehwɛmu` betumi ahu sɛ ebia obi wɔ saa awosu mu nkwaadɔm mu nsakrae yi fi awo mu anaasɛ ɔyɛ foforo.

So tebea afoforo bi wɔ hɔ a ɛte sɛ Lesch-Nyhan yare (LHS)?

Yiw, nokwarem no, tebea afoforo pii wɔ hɔ a ɛkyerɛ sɛnkyerɛnne a ɛte sɛ `LNS`. Sɛ nhwɛso no, `autism spectrum disorder` ne `cerebral palsy` nyinaa wɔ sɛnkyerɛnne a ɛte sɛ `LNS`.Enti, ɛho hia paa sɛ wubehu yare no pɛpɛɛpɛ sɛnea ɛbɛyɛ a wo ba no betumi anya ayaresa a ɛfata.

Tebea afoforo bi a ɛte sɛ `LNS` ni:

• Cornelia de Lange syndrome - Eyi nso yɛ nkɔso mu ɔhaw.
• Abusua mu dysautonomia a ɛyɛ mmerɛw.
• Fragile X a ɛyɛ mmerɛw.
• Glucose 6-phosphate dehydrogenase (G6PD) a enni nipadua mu - Eyi yɛ awosu mu tebea a ɛka mogya mu nkwammoaa kɔkɔɔ.
• `Awosu mu nkate mu ntini mu yare`.
• Huntington yare no.
• Phosphoribosyl pyrophosphate (PRPP) synthetase hyperactivity - Eyi nso ma wɔyɛ uric acid boro so.
• `Rett ɔyare mmoawa`.
• `Tourette yareɛ a ɛyɛ hu`.

So Lesch-Nyhan yare (LHS) ahorow ahorow wɔ hɔ?

Yare no a abu so sen biara a wɔfrɛ no Classic Lesch-Nyhan syndrome (LNS) no mu yɛ den yiye . Ɛde nipadua, adwene, ne nneyɛe ho haw ahorow ba. Nanso, yare no ahorow afoforo wɔ hɔ a emu nyɛ den . Mmofra a wɔwɔ saa ahorow yi nnya yare no ho sɛnkyerɛnne kakraa bi. Afei nso, ɛnyɛ den koraa sɛ wobepira wɔn ho na wɔanya kankyee mu haw ahorow.

Nneɛma a ɛyɛ mmerɛw a ɛte saa ne:

• `HPRT1-a ɛfa ntini mu dwumadi (HND)`.
• `HPRT1-fam hyperuricemia (Kelley–Seegmiller syndrome)` (HPRT1-fam hyperuricemia - Kelley–Seegmiller syndrome) - Eyi ne ɔkwan a ɛyɛ mmerɛw sen biara.

Edin afoforo bɛn na wɔde frɛ Lesch-Nyhan syndrome (LHS)?

Wɔde din afoforo pii nso frɛ saa yare yi. Wɔne:

• `Choreoathetosis ankasa a wɔtwitwa ho yare`
• `Hypoxanthine-guanine phosphoribosyltransferase a enni hɔ koraa`
• `Mmofra gout`
• `Mmofra hyperuricemia yare`
• `Kelley-Seegmiller yare no ho asɛm`
• `Lesch Nyhan yareɛ (LND)`
• `Hyperuricemia yare a edi kan`
• `HPRT a enni hɔ nyinaa`
• `X-a ɛbata hyperuricemia ho`

Lesch-Nyhan Syndrome (LHS) abu so dɛn?

Lesch-Nyhan yare no yɛ tebea a ɛntaa nsi koraa . Ɛka nnipa bɛyɛ 380,000 biara mu biako . Ɛtaa ba mmarimaa nso so kɛse. Wodii kan huu yare no wɔ 1964 mu.

Dɛn na ɛde Lesch-Nyhan Syndrome (LHS) ba?

Ade titiriw nti a ɛte saa neNsakrae, anaa nkwaadɔm mu nsakrae, wɔ awosu mu abɔde pɔtee bi a wɔfrɛ no `HPRT1 awosu mu abɔde` mu. Saa `HPRT1` gene yi yɛ enzyme a ɛho hia paa a wɔfrɛ no `HPRT`. Enzyme yɛ protein bi a ɛma nnuru (metabolism) yɛ adwuma ntɛmntɛm wɔ yɛn nipadua mu na ɛboa ma nipadua no yɛ adwuma.

Susuw nea ɛba bere a saa `HPRT` enzyme yi ntumi nyɛ adwuma yiye no ho hwɛ. Wɔ Lesch-Nyhan syndrome mu no, nipadua no ntumi mfa nnuru a wɔfrɛ no `purines` nni dwuma yiye . Sɛ wɔamfa saa purines yi nni dwuma yiye a, ɛdan `uric acid`. Eyi yɛ ade a wɔsɛe no wɔ yɛn mogya mu.

Mpɛn pii no, saa `uric acid` yi mu dodow no ara fa asaabo no mu na ɛkɔ nsu mu. Nanso, wɔ Lesch-Nyhan yare no mu no, `uric acid` (uric acid) boaboa ano wɔ nipadua no mu boro so (hyperuricemia) .

Saa uric acid a ɛboro so yi kɔ honam ani, nsa, ne anan mu sɛ abo nketewa, anaa urate ahwehwɛ. Saa ahwehwɛ yi betumi asɛe nkwaa no na ɛde tebea bi a wɔfrɛ no gout aba.

Afei nso, abo nketewa yi betumi ayɛ asaabo anaa akisikuru no mu, na asiw nsu a ɛsen no kwan na ɛde ɛyaw aba. Wɔ tebea horow bi a emu yɛ den mu no, asaabo abien no nyinaa betumi agyae adwumayɛ (adwene a entumi nyɛ adwuma yiye).

Dɛn ne Lesch-Nyhan Syndrome (LHS) ho sɛnkyerɛnne ahorow?

Nsɛnkyerɛnne a ɛwɔ mmofra a wɔwɔ Lesch-Nyhan yare no mu no ka wɔn adwene tumi, wɔn kankyee, ne wɔn nneyɛe . Mmerewa a ɛba wɔ ntini a ɛhwɛ so ne nkɔso a ɛkyɛ no ka tebea no ho sɛnkyerɛnne a edi kan no ho.

Nkokoaa binom betumi anya ahwehwɛ a ɛyɛ borɔdɔma wɔ wɔn mpaboa mu sɛ uric acid pii wɔ wɔn nipadua mu a. Nanso, nkokoaa dodow no ara a wɔwɔ saa tebea yi nkyerɛ yare no ho sɛnkyerɛnne biara a ɛda adi kosi sɛ wobedi bɛyɛ asram 4.

Nsɛnkyerɛnne pii wɔ hɔ a awofo ne nnuruyɛfo tumi hu. Momma yɛnhwɛ wɔn mmiako mmiako:

Obi ne afoforo a obepira

Nnipa a wɔhyɛ wɔn ma wopira wɔn ho no yɛ Lesch-Nyhan yare, tebea a ɛba bere a abofra afi ase retu ne sẽ akyi no agyiraehyɛde. Mpɛn pii no, nea ɛka saa suban yi ho ne:

• Wo ti anaa wo akwaa a wobɛbɔ wɔ baabi.
• Anofafa, nsateaa, ne afono a wɔkeka.
• Aniwa mu a ɛyɛ yaw.

Ɛtɔ da bi a, mmofra a wɔwɔ saa tebea yi bɔ mmɔden sɛ wobepira afoforo. Ebia wɔbɛka afoforo ayayade, akyere wɔn, abɔ wɔn, aka wɔn, anaa wɔbɛteɛteɛ wɔn . Ɛbɛyɛ sɛ ɛyɛ awerɛhow na wontumi nyɛ hwee sɛ ɛna anaa agya behu eyi, ɛnte saa?

Ntini ne kankyee ho haw ahorow

Nsɛnkyerɛnne afoforo a ɛtaa ba ne ɔhaw ahorow a ɛfa ntini ahorow a wɔde di dwuma ho. Eyinom bi ne:

• Ballismus yɛ nsa anaa anan a wɔde tu mpɛn pii wɔ ɔkwan koro no ara so.
• Ɛyɛ den sɛ wode wo nsa bɛwea, wobɛnantew, anaa wobɛdidi.
• Ɛyɛ den sɛ ɔbɛmene (dysphagia).
• Hyperreflexia a ɛma obi yɛ ade tra so.
• Akyi berɛmo a wɔkotow esiane ntini a ɛtwetwe `(opisthotonos)` nti.
• Nneɛma a wɔde keka wɔn ho a wɔmpɛ (dystonia) anaasɛ nsakrae a ɛba wɔn anim yɛbea mu.
• Nneɛma a wɔde twitwiw, twitwiw, ne twitwiw a wɔmpɛ (choreoathetosis).
• Nneɛma a ɛma obi ho popo mpofirim (chorea).
• Kankyee a ɛnkɔ yiye esiane ntini a ɛyɛ den anaasɛ ɛyɛ den (spasticity) nti.
• Nsɛmfua a ɛyɛ mmerɛw anaa kasa a wɔka brɛoo (dysarthria).

Akwahosan ho haw ahorow

Mmofra a wɔwɔ Lesch-Nyhan syndrome betumi anya akwahosan ho haw ahorow bi esiane `uric acid` a ɛboaboa ano wɔ nipadua no mu nti. Eyinom bi ne:

• Abo a ɛwɔ akisikuru mu.
• Asaabo a entumi nyɛ adwuma yiye.
• Asaabo mu abo.
• Gout.
• Megaloblastic anemia a vitamin B12 a enni nipadua mu na ɛde ba.
• Ɔfe a wɔtaa fa.

Adesua mu haw ahorow

Mmofra nso betumi anya ɔhaw ahorow te sɛ:

• Adesua mu dɛmdi ahorow.
• Adwene mu haw ahorow te sɛ nkae a wontumi nkae anaasɛ adwene a ɛso tew.
• Ɛyɛ den sɛ wɔbɛyɛ nneɛma a ɛyɛ den ho nhyehyɛe.

Ɔkwan bɛn so na wohu sɛ obi anya Lesch-Nyhan Syndrome (LHS)?

Ebia wubehu sɛnkyerɛnne ahorow wɔ wo ba no ho. Anaasɛ, ebia oduruyɛfo bi behu nneyɛe a ɛyɛ soronko bere a wɔreyɛ nhwehwɛmu a wɔyɛ no daa no. Akwahosan ho adwumayɛfo de nipadua mu nhwehwɛmu hu Lesch-Nyhan yare no .

Wobebisa wo ba no yare no ho sɛnkyerɛnne ne n’abusua aduruyɛ ho abakɔsɛm nso. Wɔbɛhwehwɛ nsɛnkyerɛnne te sɛ:

• Nkɔso a ɛkyɛ.
• Mogya anaa nsu mu nhwehwɛmu bɛma woahu sɛ wo uric acid dodow akɔ soro anaa.
• Suban ahorow a epira wɔn ho.

Nhwehwɛmu afoforo bɛn na ɛboa ma wohu yare no?

Ebia wo duruyɛfo bɛkamfo akyerɛ sɛ wɔnyɛ mogya mu nhwehwɛmu ne awosu mu nhwehwɛmu mfa nkyerɛ sɛ wɔahu yare no na wɔayi tebea afoforo afi hɔ. Awosu mu nhwehwɛmu hwehwɛ sɛ wogye mogya ketewaa bi. Sɛ wɔyɛ awosu mu nhwehwɛmu wie a, awosu ho ɔfotufo bi ne wo bɛkasa afa nea ebefi mu aba no ho.

Sɛ obi wɔ w’abusua mu wɔ Lesch-Nyhan syndrome, na woanyinsɛn a, wo ne wo duruyɛfo nka ho asɛm. Ebia wo duruyɛfo bɛkamfo akyerɛ sɛ wɔnyɛ nhwehwɛmu ansa na wɔawo, titiriw sɛ wunim sɛ wo ba no yɛ abarimaa a. Saa nhwehwɛmu a wɔyɛ ansa na wɔawo yi betumi ayɛ:

• Amniocentesis a ɛma nipadua no yɛ adwuma.
• Chorionic villus a wɔde yɛ nhwɛso.

So aduru bi wɔ hɔ a wɔde sa Lesch-Nyhan Syndrome (LHS)?

Nea ɛyɛ awerɛhow no, wonni aduru biara a wɔde sa Lesch-Nyhan yare no, na ayaresa a wobetumi apaw no sua. Nanso, akwahosan ho adwumayɛfo betumi aboa wo ne wo ba ma woadi yare no ho sɛnkyerɛnne ahorow ho dwuma na woanya asetra pa.

Henanom na wɔbɛka me ba Lesch-Nyhan Syndrome (LHS) ayaresa kuw no ho?

Sɛ wo ba wɔ Lesch-Nyhan yare no a, mpɛn pii no, animdefo ne akwahosan ho adwumayɛfo kuw bi bɛka yare no ho sɛnkyerɛnne ahorow no nyinaa ho asɛm. Ebia kuw yi bi ne:

• Awosu ho ɔbenfo.
• Asaabo ho ɔbenfo (nephrologist).
• Ntini ho ɔbenfo bi.
• Adwuma ho ɔyaresafo.
• Mmofra oduruyɛfo.
• Apɔw-mu-teɛteɛ ho ɔyaresafo.
• Asetra mu nsɛm ho dwumayɛni.
• Ɔkasa ne kasa mu ɔyare ho ɔbenfo.
• Oduruyɛfo a ne ho akokwaw wɔ nsu a wɔde fa nsu mu (urologist).

Ɔkwan bɛn so na wɔsa Lesch-Nyhan Syndrome (LHS) yare no?

Lesch-Nyhan yare no ayaresa gyina wo ba no yare no ho sɛnkyerɛnne ne sɛnea emu yɛ den so.

Ebia mmofra a wɔawo wɔn foforo ne mmofra nkumaa behia ɔhwɛ ne mmoa foforo wɔ aduan a wɔde ma ho .

Ebia w’akwahosan ho ɔyaresafo bɛkamfo nneɛma te sɛ:

• Nnuru a wɔde siw uric acid dodow a ɛkɔ soro ano anaasɛ wɔde yi suban ho haw ahorow fi hɔ.
• Mmoa a wɔde ma wɔ aduan a wɔde ma anaasɛ wɔmene ho.
• Mfiri a ɛboa, te sɛ mmubuafo akongua, na ama ayɛ mmerɛw sɛ wobɛkɔ baabiara.
• Apɔw-mu-teɛteɛ ne adwuma mu ayaresa.
• Mfiri a wɔde bɔ wɔn ho ban te sɛ ahama anaa ano aduru a wɔde siw kankyee a wɔmpɛ te sɛ nsateaa a wɔbɛka ano.
• Akwan a wɔfa so yɛ te sɛ shockwave lithotripsy anaa laser lithotripsy a wɔde bubu asaabo anaa akisikuru mu abo.

So metumi atew asiane a ɛwɔ hɔ sɛ me ba benya Lesch-Nyhan Syndrome (LHS) no so?

Nokwarem no, ɔkwan biara nni hɔ a wɔbɛfa so asiw Lesch-Nyhan yare no ano. Ɛnam awosu mu nsakrae (mutations) a ɛba bere a akokoaa no renyin wɔ awotwaa mu no mu. Biribiara nni hɔ a wobɛyɛ a ebetumi de yare yi aba. Kae saa asɛm no. Wɔ tebea horow bi mu no, wobetumi ayɛ nhwehwɛmu ansa na wɔawo de ahu awosu mu nsakrae no.

Dɛn ne abofra a ɔwɔ Lesch-Nyhan yare (LHS) no anidaso?

Mpɛn pii no, mmofra a wɔwɔ Lesch-Nyhan yare no ho anidaso nyɛ papa . Mpɛn pii no wontumi nnantew na wohia mmubuafo akongua. Pii nkwa nna yɛ tiaa . Esiane yare no mu nsɛnnennen nti, ɛntaa mma sɛ nnipa bɛtra ase aboro mfe 20. Nanso, ayaresa kuw bi betumi aboa wo ne wo ba no ma moadi yare no ho sɛnkyerɛnne ahorow ho dwuma na aboa wo ba no ma ne ho atɔ no na wayɛ nnam sɛnea wobetumi.

Bere bɛn na ɛsɛ sɛ mehwehwɛ aduruyɛ mu afotu ma me ba?

Ɛho hia sɛ wuhu Lesch-Nyhan yare no ntɛm . Akwahosan ho adwumayɛfo betumi ama wo ne wo ba no mmoa a ɛkɔ so ne yare no ho sɛnkyerɛnne ahorow. Wo duruyɛfo ne wo bɛyɛ adwuma de ayɛ ayaresa nhyehyɛe ma ɛne wo ba no ahiade a ɛresakra no ahyia.Ɔyɛ ɔhwɛ nhyehyɛe a ɛfa obiara ho.

Awofo pii te ahodwiriw kɛse nka na wontumi nyɛ hwee bere a wɔahu sɛ wɔwɔ Lesch-Nyhan yare no akyi. Ntease wom sɛ eyi yɛ awosu mu yare a ɛntaa nsi a wonni ano aduru biara. Nanso, sɛ wohu abofra ntɛm na wɔsa no yare a, ebetumi ama n’asetra atu mpɔn kɛse. Wo ne wo duruyɛfo nkasa mfa ayaresa a etu mpɔn a ebetumi ama nsakrae aba bere a wo ba no nyin no ho.

Awiei koraa no, nkrasɛm a wɔde kɔ fie

Okay, enti ɛfiri deɛ yɛaka ho asɛm no mu no, mewɔ anidasoɔ sɛ woanya nhumu bi wɔ Lesch-Nyhan Syndrome ho. Eyi yɛ tebea a ɛntaa nsi koraa, na ɛyɛ den yiye ma abofra ne abusua.

• Eyi yɛ awosu mu yare: ɛtaa fi ɛna hɔ kɔ ɔba mu, anaasɛ ebetumi afi awosu mu nsakrae foforo mu aba.
• Nsɛnkyerɛnne titiriw ne sɛ obi bepira ne ho: ɛde ntini mu haw ahorow, tebea horow te sɛ gout, ne adesua mu dɛmdi nso ba.
• Aduru biara nni hɔ, nanso yebetumi adi sɛnkyerɛnne ahorow no so: sɛ yɛyɛ ayaresa ahorow ne nnuruyɛfo a wɔyɛ adwumaden kuw bi mmoa a, yebetumi abɔ mmɔden sɛ yɛbɛma abofra no asetra ayɛ nea ahotɔ wom sɛnea yebetumi biara.
• Ɛho hia paa sɛ wubehu yare no ntɛm: Sɛ wuhu sɛnkyerɛnne ahorow a, hwehwɛ aduruyɛfo afotu ntɛm ara.
• Ɛnyɛ wo nkutoo: Ebetumi ayɛ den sɛ wobɛkɔ so ayɛ den wɔ w’adwene mu wɔ tebea a ɛte sɛɛ mu. Nanso, hwehwɛ mmoa fi nnuruyɛfo, afotufo, ne w’adɔfo hɔ.

Mewɔ anidaso sɛ saa nsɛm yi bɛboa wo. Sɛ wo ba no wɔ saa sɛnkyerɛnne ahorow yi bi a, yɛsrɛ sɛ kɔ oduruyɛfo a ɔfata nkyɛn ntɛm ara sɛnea wubetumi.

` Lesch-Nyhan Syndrome, LNS, HPRT1 awosu mu abɔde, uric acid, gout, ankasa opira, awosu mu yare, mmofra ayaresa, awosu mu nyarewa, uric acid