So ɛsono wo ba nnadewa ne ne nkotodwe? So ebetumi ayɛ Nail-Patella Syndrome?

So woahu nsakrae bi wɔ wo ba ketewa no nnadewa anaa ne nkotodwe mu? Ɛtɔ mmere bi a eyinom betumi ayɛ awosu mu tebea bi a wɔfrɛ no Nail-Patella Syndrome ho sɛnkyerɛnne. Ebia eyi bɛyɛ te sɛ nea ɛyɛ hu, nanso mma ɛnhaw wo. Momma yɛnka ho asɛm nkɔ akyiri na yɛnka ho asɛm tiawa. Eyi betumi aka sɛnea abofra no nnadewa, ne nnompe, n’ani, ne n’asaabo afã horow bi te ne sɛnea ɛyɛ adwuma.

Dɛn ne tebea yi ho sɛnkyerɛnne? Woyɛ dɛn hu no?

Abofra a ɔwɔ Nail-Patella Syndrome nipadua no afã horow bi betumi ayɛ soronko anaasɛ ɛyɛ adwuma wɔ ɔkwan soronko so sen sɛnea wɔhwɛɛ kwan. Momma yɛnhwɛ nea ɛyɛ sɛnkyerɛnne ahorow yi:

Nnadewa a wɔde yɛ

Ebia wo ba no nnadewa bɛyɛ tiaa paa, anaasɛ ɛyera mpo. Ebia wubehu sɛ nnadewa no mu ayɛ amena, ayɛ amena, anaasɛ ne kɔla asakra. Mpɛn pii no, nsateaa nnadewa na ɛka kɛse sen nansoaa nnadewa. Saa nsakrae yi da adi titiriw wɔ nsateaa kɛse ne nsateaa a wɔde kyerɛ ade no so.

Kotodwe (Patella) .

Nkotodwe no, anaa nea nnuruyɛfo frɛ no ``Patella'' no betumi ayɛ ketewaa, ayɛ soronko, anaasɛ ayera mpo. Ɛtɔ mmere bi a, wobetumi de saa kotodwe yi asi soro kakra anaasɛ akɔ nkyɛnkyɛn sen sɛnea ɛte daa. Eyi betumi ama abofra no kotodwe ayɛ no yaw, ate nka sɛ ontumi nnyina, anaasɛ ontumi nkotow anaa nteɛteɛ ne kotodwe no yiye (range of motion). Patella a ɛpaapae yɛ ade a ɛtaa ba wɔ tebea yi mu. Fa no sɛ, bere a wo ba no redi agoru no, ɔkyere ne kotodwe mpofirim na ofi ase su, na ontumi nnantew.

Abatwɛ

Ebia nnompe a ɛwɔ wo ba abasa mu no rennyin yiye sɛnea wɔhwɛ kwan no. Afei nso, ɛtɔ mmere bi a wubetumi ahu honam ani hwɛbea foforo (te sɛ ntini a ɛka bom) wɔ nsateaa no ho. Ebia nsakrae ahorow yi bɛma obi atumi adan ne nsa no, atrɛw mu, na wabɔ ne nsateaa no ano.

Asen nnompe

Ebia wo ba no wɔ nnompe nketenkete a ɛpuepue (nnuruyɛfo frɛ eyinom `iliac horns`) wɔ wɔn asen nnompe so. Wɔtaa wɔ asen dompe no afã abien no nyinaa. Ɛtɔ da bi a, wotumi fa abofra no honam ani te nka, nanso mpɛn pii no ɛnyɛ ɔhaw kɛse.

Ani

Nhyɛso a ɛwɔ abofra no aniwa mu no betumi ayɛ kɛse (ocular hypertension). Awiei koraa no, eyi betumi abɛyɛ tebea bi a wɔfrɛ no glaucoma. Ɛwom sɛ mpɛn pii no, mfiase no sɛnkyerɛnne biara nni hɔ de, nanso mmofra binom betumi anya tiyɛ, halo ahorow a atwa akanea ho ahyia, anaasɛ wɔn ani nhu ade yiye.

Asaabo a ɛma obi nya asaabo

Nnipa du biara mu bɛyɛ baanan a wɔwɔ Nail-Patella syndrome no benya asaabo mu yare, wɔ mmofraase anaa mpanyin afe so. Eyi betumi afi nea emu nyɛ den so kosi nea ɛde nkwa to asiane mu so. Asaabo mu yare a emu nyɛ den mpo betumi ayɛ den, nkakrankakra anaa mpofirim.

Nsɛnkyerɛnne afoforo

Nnipa binom a wɔwɔ Nail-Patella syndrome nso betumi anya sɛnkyerɛnne afoforo te sɛ:

• Sɛ obi nantew wɔ nansoaa so esiane sɛ Achilles ntini no mu ayɛ den nti.
• Ntini a ɛwɔ nsa ne nan mu a ɛso tew.
• Akisikuru ne/anaasɛ dwensɔtwaa a ɛyɛ abufuw.
• Nnompe mu mineral density a ɛso tew.
• Nsa ne nan a ɛtɔ mmere bi a ɛyɛ mmerɛw, ɛyɛ mmerɛw, anaasɛ ɛyera.
• Nse a ɛyɛ mmerɛw anaasɛ ɛnyɛ den sɛ ebebubu anaasɛ sẽ mu ntini a ɛyɛ teateaa.
• Akyi berɛmo no a ɛyɛ kurukuruwa a ɛnteɛ (scoliosis).

Nhwehwɛmufo da so ara rebɔ mmɔden sɛ wɔbɛte sɛnea ɔhaw ahorow yi abu so wɔ nnipa a wɔwɔ Nail-Patella syndrome mu no ase ankasa.

Dɛn nti na nnadewa-patella yare yi ba?

Sɛ yɛbɛka no tiawa a, nsakrae a ɛba wo ba no awosu mu nkwaadɔm mu (gene variants) na ɛde Nail-Patella Syndrome ba. Mpɛn pii no , wohu nsakrae yi wɔ awosu mu abɔde bi a wɔfrɛ no LMX1B mu wɔ nnipa a wɔwɔ saa tebea yi mu. Saa LMX1B awosu mu abɔde yi ne nea ɛkyerɛ abofra sɛnea ɔbɛhyehyɛ nneɛma te sɛ ne nsa, ne nan, n’ani, ne ne asaabo yiye bere a ɔwɔ awotwaa mu no.

Saa awosu mu nkwaadɔm ahorow yi ma LMX1B protein no ntumi nyɛ adwuma sɛnea wɔhwɛɛ kwan no. Ne saa nti, abofra no nipadua afã horow ntumi nhyehyɛ sɛnea ɛsɛ, na ɛde Nail-Patella syndrome ho sɛnkyerɛnne ahorow ba.

Nanso, ɛntaa mma koraa sɛ nnipa binom betumi anya Nail-Patella syndrome ho sɛnkyerɛnne a wonni nsakrae biara wɔ LMX1B awosu mu abɔde mu. Nhwehwɛmufo susuw sɛ ebia awosu mu nkwaadɔm afoforo ka ho, na wɔda so ara reyɛ nhwehwɛmu.

So wɔde yare yi fi awo ntoatoaso so kɔ awo ntoatoaso so?

Yiw, Nail-Patella Syndrome yɛ tebea a efi awo ntoatoaso so kɔ awo ntoatoaso so (wɔ ``autosomal dominant pattern`` mu). Eyi kyerɛ sɛ sɛ abofra nya awosu mu nkwaadɔm a ɛyɛ soronko yi biako fi ɔwofo no mu biara hɔ a, ɛda adi sɛ abofra no benya saa yare yi.

Sɛ yɛbɛka no tiawa a, sɛ wowɔ Nail-Patella syndrome a, wo mma wɔ hokwan 50% sɛ wobenya tebea no fi awo mu. Saa asiane yi yɛ ade koro wɔ nyinsɛn biara mu. Na sɛ woyɛ abeawa anaa abarimaa a, ɛnyɛ hwee.

Nnipa du biara mu bɛyɛ akron a wɔwɔ Nail-Patella syndrome no wɔ wɔn awofo mu biako a ɔwɔ yare no. Nanso, ebia nnipa du biara mu biako nni abusua muni bi a ɔwɔ yare no. Eyi kyerɛ sɛ mmofra binom na wodi kan wɔ wɔn abusua mu a wɔwo wɔn a wɔwɔ yare no.

Nsɛnnennen afoforo bɛn na eyi betumi de aba?

Nail-Patella Syndrome betumi de nsɛnnennen bi aba. Wɔne:

• Osteoarthritis (nkwaa mu yaw) a ɛwɔ wo ba no nkotodwe ne/anaasɛ ne nsateaa mu betumi aba bere a osua sen sɛnea na wɔhwɛ kwan no.
• Glaucoma betumi ama obi nhu ade yiye sɛ wɔansa no yiye a.
• Asaabo a entumi nyɛ adwuma yiye.

Ebia nnipa binom a wɔwɔ Nail-Patella syndrome behia dialysis anaasɛ wɔde asaabo foforo ma esiane asaabo a entumi nyɛ adwuma nti.

Afei nso, sɛ obi a ɔwɔ Nail-Patella syndrome nyinsɛn a, asiane wɔ hɔ sɛ obenya tebea bi a wɔfrɛ no ``preeclampsia`` wɔ nyinsɛn mu. Nnuruyɛfo hwɛ nnuru so na wɔyɛ nsakrae sɛnea ɛho hia wɔ nyinsɛn mu na ama asiane yi so atew.

Ɔkwan bɛn so na wohu yare yi pɛpɛɛpɛ?

Nnuruyɛfo bɛyɛ nhwehwɛmu ahorow yi mu biako anaa nea ɛboro saa de ahu tebea yi:

• Nipadua mu nhwehwɛmu : Hwehwɛ nneɛma te sɛ nsakrae a ɛba nnadewa mu ne nnompe mu nsakrae.
• Mfoninitwa nhwehwɛmu titiriw : Wɔde X-ray, CT scan, ne MRI di dwuma de hwehwɛ nnompe no mu yiye.
• Mogya ne/anaasɛ nsu mu nhwehwɛmu : Hwɛ sɛnea asaabo no reyɛ adwuma.
• Kidney biopsy : Woyi ntini ketewaa bi fi asaabo no mu na wɔhwɛ sɛ ntini mu nsakrae bi aba Nail-Patella syndrome pɔtee bi mu anaa.
• Awosu mu nhwehwɛmu : Eyi sɔ awosu mu nkwaadɔm a ɛsono emu biara hwɛ.

Nnuruyɛfo ne wo bɛkasa na wɔabisa wo ba no abusua aduruyɛ ho abakɔsɛm. Sɛ nhwɛso no, wobebisa sɛ ebia obi wɔ w’abusua mu a wanya Nail-Patella syndrome anaa awosu mu yare foforo bi anaa. Saa nsɛm yi bɛboa wɔ sɛnea wobehu yare no mu. Ebia wɔbɛkamfo awosu mu nhwehwɛmu nso ama wo anaa abusua no mufo afoforo.

Nail-Patella syndrome ho sɛnkyerɛnne taa da adi wɔ mmofraase. Nanso, wɔ nnipa binom fam no, ebia wɔrenhu tebea no mfe pii, esiane sɛ yare no ho sɛnkyerɛnne no nyɛ den koraa anaasɛ esiane sɛ yare no ho sɛnkyerɛnne no nna adi kɛse nti. Nnuruyɛfo betumi ahu tebea no wɔ mmofra ne mpanyimfo a wɔadi mfe ahorow nyinaa mu.

Nnuruyɛfo bɛn na wɔbɛsa me ba no yare na wɔahu yare no?

Ebia wo ba no behia nnuruyɛfo kuw bi a wɔn ho akokwaw wɔ nipadua no afã horow a Nail-Patella Syndrome aka no ho. Nhwɛsoɔ:

• Nnompe ho oduruyɛfo boa wɔ nnompe mu haw ahorow ho.
• Nephrologist bi hwɛ sɛnea abofra no asaabo yɛ adwuma.
• Aniwa ho ɔbenfo bi na ɔhwɛ abofra no aniwa so.

Dɛn ne ayaresa ahorow a wɔde sa nnadewa-patella syndrome?

Nail-Patella Syndrome yɛ tebea a ɛkɔ so wɔ nkwa nna nyinaa mu. Aduru biara nni hɔ a wɔde bɛsa. Nanso, ayaresa ahorow bi wɔ hɔ a wobetumi de adi sɛnkyerɛnne ahorow no so na wɔatew asiane a ɛwɔ hɔ sɛ wobenya ɔhaw ahorow no so.

Ayaresa ahorow wɔ hɔ a wɔde sa eyi, na ebia ɛho behia sɛ wɔsa yare bɛboro biako a egyina sɛnea yare no ka wo ba no so. Wo ba no nnuruyɛfo begyina n’ahiade so ayɛ ayaresa ho nhyehyɛe. Ebia saa ahiade ahorow yi bɛsakra bere a bere kɔ so no. Ayaresa ahorow a ebia wobetumi anya no bi ne:

• Apɔw-mu-teɛteɛ a wɔde boa wɔ ɔhaw ahorow a ɛma obi tumi nantew ho.
• Nnuru a wɔde siw nnompe ne ntini mu yaw, mogya mmoroso, anaa aniwa so nhyɛso ano.
• Oprehyɛn a wɔyɛ de siw nnompe a ɛnyɛ ne kwan so, atiridiinini, anaa asaabo mu yare a emu yɛ den (a asaabo a wɔde ma ka ho) ano.

Wo ba no nnuruyɛfo bɛkyerɛkyerɛ mfaso ne ɔhaw ahorow a ɛwɔ ayaresa biara mu akyerɛ wo. Abofra awosu mu tebea a emu yɛ den a wobedi ho dwuma no betumi ate nka sɛ ɛyɛ den. Enti ntwentwɛn wo nan ase sɛ wubebisa nsɛm na woaka nea ɛhaw wo ho asɛm. Saa kwan no so no, wubetumi anya ahotoso wɔ wo ba ayaresa nhyehyɛe no ho.

So tebea yi bɛka abofra no nkwa nna?

Mpɛn pii no, Nail-Patella Syndrome nnya obi nkwa nna so nkɛntɛnso. Nanso, sɛ asaabo mu yare a emu yɛ den ba a, ɛno betumi asesa. Saa ɔhaw yi betumi aka nkɔmhyɛ ne bere tenten a obi tra ase. Ebia nnipa binom mpo behia sɛ wɔde asaabo foforo ma.

Ɛsono sɛnea awosu mu tebea horow te sɛ Nail-Patella syndrome ka abofra biara kakra, enti ɛyɛ den sɛ wobɛka sɛnkyerɛnne ahorow pɔtee a wo ba no benya ne sɛnea ɛbɛyɛ den. Wo ba no nnuruyɛfo betumi aka eyi ho asɛm pii akyerɛ wo.

So wobetumi asiw Nail-Patella yare no ano?

Mprempren wonnim ɔkwan biara a wɔbɛfa so asiw awosu mu tebea yi ano. Sɛ wo anaa wo hokafo wɔ Nail-Patella Syndrome, na woreyɛ nhyehyɛe sɛ wobɛwo ba a, ɛbɛyɛ papa sɛ wo ne awosu ho ɔfotufo bi bɛkasa . Wobetumi aboa wo ma woate hokwan a ɛwɔ hɔ sɛ wo ba no benya ɔyare no afi awo mu no ase.

Bere bɛn na ɛsɛ sɛ me ba no kɔ oduruyɛfo nkyɛn?

Ɛda adi sɛ wo ba no behia sɛ ɔtaa ne nnuruyɛfo ahorow pii kɔ ayaresabea. Wo ba no aduruyɛ kuw no bɛkyerɛ wo bere pɔtee a ɛsɛ sɛ wokɔ ne mpɛn dodow a ɛsɛ sɛ wokɔ.

Mpɛn pii no, ɛho behia sɛ wo ba no ma wɔhwɛ nneɛma yi mu daa:

• Mogya mmoroso ho nhwehwɛmu.
• Nsu mu nhwehwɛmu, a nea ɛkyerɛ `albumin-creatinine dodow` ka ho.
• Glaucoma ho nhwehwɛmu a wɔyɛ.
• Nnompe a ɛyɛ den ho nhwehwɛmu.

Nnuruyɛfo betumi aboa wo ma woakyerɛkyerɛ hia a nhwehwɛmu ahorow yi ho hia mu akyerɛ wo ba.

Ɛho hia nso sɛ wobɛhwɛ wo ba no adwene mu akwahosan so - ne w’ankasa wo de. Ebia wo ba no ani bewu wɔ ne honam ani hwɛbea ho, anaasɛ obehia mmoa ma wanya ne ho mu ahotoso. Ebia wubesusuw nea wubetumi ayɛ de aboa wɔn ma wɔate nka sɛ wɔn ho ye nso ho.

Wo ne wo ba no nnuruyɛfo nkasa fa sɛnea wo ne mmoa akuw, ayaresa ho animdefo, ne asetra mu nsɛm ho adwumayɛfo bɛbɔ ho. Sɛ wowɔ awofo a wɔn ho akokwaw ne akwahosan ho adwumayɛfo kuw bi a wɔboa w’abusua a, ebetumi ama nsakrae kɛse aba wo da biara da asetra mu.

Nail-patella syndrome ho yɛ na dɛn?

Nhwehwɛmufo bu akontaa sɛ Nail-Patella Syndrome ka nnipa bɛyɛ 50,000 biara mu biako. Nanso, ebia ɛtaa ba efisɛ nnipa a wɔn yare no ho sɛnkyerɛnne nyɛ den koraa no nkɔ so nhu.

So edin afoforo wɔ hɔ a wɔde frɛ eyi?

``Fong yare`` yɛ din foforo a wɔde frɛ Nail-Patella Syndrome. Ná wɔtaa de saa din yi di dwuma bere bi a atwam. Ɛnnɛ, nnipa pii frɛ no Nail-Patella Syndrome.

Edin foforo a wɔde frɛ tebea koro no ara ne ``hereditary onycho-osteodysplasia``. Momma yɛnhwɛ nea edin yi fã biara kyerɛ:

• ``Agyapadeɛ`` kyerɛ sɛ wɔbɛtumi ahunu wɔ mmusua mu.
• ``Onycho`` kyerɛ nnadewa.
• ``Osteo`` kyerɛ nnompe.
• ``Dysplasia'' kyerɛ sɛ nkɔsoɔ anaa nkɔsoɔ mu sintɔ bi a ɛnteɛ wɔ nipadua no fã bi mu.

Enti, nneɛma bɛn na ɛho hia sen biara a ɛsɛ sɛ yɛkae fi nea yɛaka ho asɛm no mu?

Sɛ wo ba no wɔ awosu mu yare bi wɔ ne nkwa nna nyinaa mu te sɛ Nail-Patella Syndrome a, nneɛma betumi ayɛ den kakra. Ebia wo ba no yiyedi, ne daakye ho asɛm haw wo. Ebia woresusuw nea wuhia fi wɔn hɔ nso ho na aboa wɔn ma wɔanyin, wɔadi yiye, na wɔanya asetra a anigye wom. Ɛyɛ adesoa kɛse, nanso ɛnsɛ sɛ wo nkutoo soa. Wo ne wo ba aduruyɛ kuw no nkasa fa akwan a wobɛfa so aboa wo ba no ahiade ho – ne w’ankasa de.

Kae sɛ, sɛ wuhu yare no ntɛm na wodi ho dwuma yiye a, ɛbɛboa kɛse ma waboa wo ba ma watra ase sɛnea ɛsɛ na apɔwmuden wom. Nsuro anaa mma wo ho nnpopo. Nea ɛho hia sen biara ne sɛ wode ɔdɔ ne ntease bedi wo ba no yare bere a odi aduruyɛ mu afotu akyi no.

` Nail-Patella Syndrome, Awosu mu Nyarewa, Nnadewa, Kotodwe, Patella, Asaabo Yare, LMX1B, Fong Yare, Mmofra Akwahosan