So wo ba kumaa no ti nhwi yɛ kurukuruwa a ɛyɛ nwonwa? Momma yensua Menkes Yare no ho ade!

So woahyɛ no nsow pɛn sɛ wo ba ketewa no ti nhwi yɛ nwonwa yiye, ɛyɛ kurukuruwa te sɛ waya, ne kɔla yɛ hare, na ɛnyɛ den sɛ ebebubu? Anaasɛ wo ba no nipadua te nka sɛ ɛho ayɛ hare na awɔw wom paa? Ɛwom sɛ eyinom yɛ nneɛma a ɛtɔ mmere bi a yɛmfa yɛn adwene nsi so kɛse de, nanso ebetumi ayɛ nyarewa bi a wɔntaa nhu ho sɛnkyerɛnne a edi kan. Sɛ nhwɛso no, yare bi a ebetumi aba nkokoaa so, nanso wɔnka ho asɛm pii no, wɔfrɛ no Menkes Yare. Momma yɛnka eyi ho asɛm nkɔ akyiri kakra nnɛ.

Dɛn ne Menkes Yare? Sɛ yɛbɛka no tiawa a...

Menke yare no yɛ awosu mu tebea . Ɛkyerɛ sɛ wɔde no wo akokoaa. Nea ɛba wɔ eyi mu ne sɛ nipadua no ntumi mfa aduannuru a ɛho hia a ɛyɛ kɔbere no nni dwuma yiye . Afei ebia woredwen ho sɛ, "Dɛn na kɔbere yɛ?" Nokwarem no, kɔbere yɛ biribi a ɛboa nhyehyɛe ahorow pii a ɛho hia wɔ yɛn nipadua mu ma ɛyɛ adwuma yiye. Susuw ho hwɛ:

• Ɛsɛ sɛ yɛn ntini nhyehyɛe (kyerɛ sɛ, amemene ne ntini a ɛkɔ nipadua no mu nyinaa) yɛ adwuma yiye.
• Ma yɛn nnompe nyɛ den.
• Ɛmmra sɛ yɛn ti nhwi ne yɛn honam ani nyɛ papa.
• Ɛsɛ sɛ yɛn mogya ntini (beae a mogya kɔ) yɛ adwuma yiye.

Kɔbere ho hia ma eyinom nyinaa. Enti, esiane sɛ akokoaa a ɔwɔ Menkes Yare no nipadua mfa kɔbere yi nni dwuma yiye nti, ebetumi asɛe ade kɛse, titiriw ntini ahorow no. Eyi ma akokoaa no nyin yɛ mmerɛw na nipadua no yɛ mmerɛw. Awerɛhosɛm ne sɛ, yare yi betumi de nkwa ato asiane mu .

Wɔ saa yare yi mu no, akokoaa no ti nhwi yɛ kurukuruwa wɔ ɔkwan a ɛyɛ nwonwa so na ɛte sɛ waya, enti nnipa binom frɛ no "kinky hair disease."

Nea ɛho hia ne sɛ wonnya nnyaa eyi ho aduru a edi mũ. Nanso, sɛ wofi ase de kɔbere sa yare wɔ adapɛn anan a edi kan wɔ akokoaa no awo akyi a, wobetumi atew sɛnkyerɛnne ahorow no so na wɔatrɛw akokoaa no nkwa nna mu kakra. Enti, sɛ wobehu yare no ntɛm a, ɛho hia yiye.

Menkes Yare no abu so dɛn?

Wɔ wiase nyinaa no, kan no na wosusuw sɛ mmofra a wɔawo wɔn foforo 100,000 biara mu bɛyɛ biako betumi anya saa yare yi. Ɛno bɛyɛ ɔpepem abien ne fã biara mu biako.

Nanso, nhwehwɛmu foforo bi a wɔyɛe wɔ afe 2020 mu a wɔde nsɛm a efi Genome Aggregation Database mu dii dwuma no kyerɛe sɛ dodow yi betumi akɔ soro kɛse. Nea ɛne eyi hyia no, wɔka sɛ ebia mmofra mmarima 8,664 biara mu biako a wɔwɔ United States nkutoo, anaasɛ nkokoaa bɛyɛ 225 afe biara, anya saa yare yi.

Sɛ wɔyɛ akwan a wɔfa so hwehwɛ mmofra a wɔawo wɔn foforo mu daakye a, wobesi akontaabu ahorow yi so dua bio na wobetumi ahu yare no ntɛm na wɔafi ase sa yare.

Hena na ɛda adi sɛ obenya saa yare yi?

Menkes Yare no abu so wɔ mmarimaa mu.Ɛno na ɛka no kɛse. Nanso ebetumi aka abusuakuw biara, mmusuakuw biara.

Dɛn ne Menkes Yare no ho sɛnkyerɛnne?

Ɛtɔ mmere bi a wobetumi awo nkokoaa a wɔwɔ Menkes Yare no ntɛm . Ebia ɛbɛyɛ te sɛ nea wɔtaa nya apɔwmuden wɔ awo mu.

Nanso, sɛnkyerɛnne a edi kan no fi ase da adi bɛyɛ asram 2 kosi 3 . Eyinom ne:

• Kinky hair yɛ ti nhwi bi a ɛyɛ kurukuruwa, ɛyɛ nhama, na ɛyɛ asorɔkye. Saa ti nhwi yi kɔla yɛ hare yiye, ɛtɔ mmere bi a ɛyɛ fitaa anaa fitaa. Ɛsan nso bubu ntɛmntɛm.
• Ntini mu ahoɔden a ɛso tew (Hypotonia): Eyi kyerɛ sɛ akokoaa no nipadua yɛ mmerɛw kɛse. Ɛte sɛ nea nkwa nnim.
• Nipadua mu hyew a ɛba fam (Hypothermia): Akokoaa no nipadua te awɔw nka bere nyinaa.
• Anim no yɛ te sɛ nea ɛrehwe ase .
• Akisikuru ho sɛnkyerɛnne (akisikuru/akisikuru) , kyerɛ sɛ, tebea horow a ɛte sɛ akisikuru.
• Onyin nkakrankakra ne nkɔso a ontumi nyɛ yiye: Akokoaa no nnyin yiye na ne mu duru nyɛ kɛse .
• Wora ne aniwa a ɛyɛ kɔkɔɔ (jaundice).

Saa sɛnkyerɛnne ahorow yi nna adi wɔ akokoaa biara mu bere koro mu. Ɛtɔ mmere bi a, ɛwom sɛ ɛntaa mma koraa de, nanso saa sɛnkyerɛnne ahorow yi betumi ada adi akyiri yi wɔ mmofraase anaa mpo wɔ mmerantebere ne mmabaabere mu.

Dɛn ne nsɛnnennen a ebetumi afi Menkes Syndrome mu aba?

Menkes Syndrome yɛ ntini mu yare a ɛma ntini mu yare no sɛe nkakrankakra . Eyi kyerɛ sɛ bere kɔ so no, adwene mu haw ahorow sɔre wɔ amemene no ne nsusuwii mu. Mmofra ne mpanyimfo a wɔwɔ saa yare yi betumi anya nsɛnnennen te sɛ:

• Ɔhaw ahorow te sɛ amemene mu mogya a ɛtɔ (subdural hematomas) .
• Diverticulosis yɛ nkotoku nketewa a epue fi dwensɔtwaa anaa akisikuru no afasu mu a ɛba.
• Nnompe nketewa a ɛboro so (Wormian nnompe) a ɛba wɔ ti nhwi no mu.
• Nkwammoaa mu ahoɔden a wɔhwere .
• Nnompe mu yare yɛ tebea a ɛma nnompe yɛ mmerɛw na ɛyɛ mmerɛw, na ɛma ɛyɛ mmerɛw sɛ ebebubu.
• Ntini mu ntini a ɛyɛ kurukuruwa .

Biribi a ɛho hia wɔ hɔ a ɛsɛ sɛ yɛka wɔ ha. Ɛtɔ mmere bi a, sɛ nnuruyɛfo hu sɛ mogya retu akokoaa bi amemene mu anaasɛ ne nnompe abubu a, wobetumi asusuw sɛ wɔayɛ mmofra ayayade. Sɛ wunim sɛ wo ba no wɔ baabi a ahobammɔ wɔ, nanso ɔreda saa sɛnkyerɛnne ahorow yi adi a, hwɛ hu sɛ wo ne wo duruyɛfo bɛkasa na woasusuw sɛnea wɔbɛyɛ nhwehwɛmu a wɔbɛyɛ wɔ Menkes Yare no ho.

Dɛn ne Occipital Horn Syndrome (OHS) a Ɛyɛ Fɛ?

Occipital Horn Syndrome (OHS) yɛ Menkes Yare a emu nyɛ den .Eyi kyerɛ sɛ yare no ho sɛnkyerɛnne no mu nyɛ den saa. Mpɛn pii no, sɛ abofra adi fi mfe 5 kosi 10 a, wohu.

Wɔ Menkes Yare no ho sɛnkyerɛnne a emu nyɛ den akyi no, mmofra a wɔwɔ OHS nso betumi anya:

• Occipital mmɛn: Eyinom yɛ nneɛma a ɛte sɛ abɛn a calcium a ɛwɔ ti nhwi no ase na ɛyɛ.
• Dysautonomia: Ɔhaw a ɛba ntini mu a ɛka nneɛma te sɛ mogya mmoroso ne nipadua kari pɛ.
• Nkwaa ne honam ani a ɛyɛ mmerɛw.
• Ɔhaw nketenkete a ɛfa sɛnea wotumi susuw nneɛma ho.

Dɛn na ɛde Menkes Yare no ba?

Sɛnea yɛadi kan aka no, Menkes Yare yɛ awosu mu yare . Ɛne sɛ, ɛwɔ hɔ wɔ awo mu. Wɔ bɛyɛ nkyem abiɛsa mu abien mu no, awosu mu abɔde a ɛnteɛ a wonya fii ɛna no hɔ na ɛde ba . Wɔ bɛyɛ nkyem abiɛsa mu biako mu no, nsakrae foforo a ɛba awosu mu abɔde a wɔfrɛ no ATP7A mu na ɛde yare no ba.

Awosu mu abɔdeɛ a ɛde saa yareɛ yi ba no, wɔfrɛ no `ATP7A`, a ɛka protein a ɛhwɛ kɔbere dodoɔ a ɛwɔ yɛn nipadua mu so. Enti sɛ saa `ATP7A` gene yi ntumi nyɛ adwuma yiye a, yɛn nipadua no ntumi `mfa` kɔbere yiye.

Mmarimaa taa nya saa awosu mu abɔde yi fi awo mu efisɛ Menkes Syndrome yɛ awosu mu yare a ɛne X wɔ abusuabɔ . Mmarimaa wɔ X chromosome biako. Enti sɛ awosu mu abɔde bi a asɛe wɔ so a, yare no bɛba. Mmabaa wɔ X chromosome abien, enti sɛ obi benya yare no a, ɛsɛ sɛ wonya awosu mu nkwaadɔm a asɛe abien no nyinaa fi awo mu.

Ɔkwan bɛn so na nnuruyɛfo hu Menkes Yare no?

Sɛnea ɛbɛyɛ na oduruyɛfo no ahu Menkes Yare no, obedi kan ahwɛ abofra no mu. Titiriw no, wɔbɛhwɛ ti nhwi a ɛyɛ mmerɛw na ɛyɛ kurukuruwa . Wobebisa yare no ho sɛnkyerɛnne ne abusua aduruyɛ ho abakɔsɛm nso. Wobetumi nso asɔ abofra no ahwɛ sɛ:

• Mogya mu nhwehwɛmu: Wɔfa mogya mu de hwɛ sɛ kɔbere, ceruloplasmin (protein a ɛde kɔbere kɔ), ne catecholamines, hormone ahorow a ɛboa ma wotumi di ntini no kankyee ne nkate so no sua anaa.
• CT scan anaa X-ray: Eyi bɛhwehwɛ nnompe nketenkete a wɔakyinkyim (nwansena nnompe) wɔ abofra no ti nhwi mu. Eyinom fi ɔhaw ahorow a ɛwɔ ntini a ɛka bom no mu a kɔbere a enni hɔ de ba no.
• Skin biopsy: Wɔfa abofra no honam ani fã ketewaa bi na wɔde afiri a wɔde hwɛ nneɛma nketenkete hwɛ sɛnea abofra no nipadua de kɔbere di dwuma yiye.
• Ultrasound: Wɔde eyi hwehwɛ akisikuru no mu. Diverticula a ɛyɛ nkotoku a epue fi akisikuru no mu no yɛ ɔhaw a ɛtaa de Menkes Syndrome ba.
• Nsu mu nhwehwɛmu: Saa nhwehwɛmu yi hwɛ sɛ acid ahorow bi (HVA/VMA) dodow akɔ soro wɔ nsu mu anaa. Ɛsono sɛnea saa acid ahorow yi dodow gyina enzyme bi a egyina kɔbere so dwumadi so.

So me ba no betumi ayɛ awosu mu nhwehwɛmu ahu sɛ ɔwɔ Menkes Yare no?

Nhwehwɛmufo da so ara rebɔ mmɔden sɛ wobenya akwan foforo a wɔbɛfa so ahu Menkes yare no ntɛm. Awosu mu nhwehwɛmu a wɔhwehwɛ mu nsakrae wɔ ATP7A awosu mu nkwaadɔm mu no yɛ ɔkwan biako a wɔfa so yɛ eyi.

Ɔkwan bɛn so na nnuruyɛfo sa Menkes Yare no?

Sɛ ayaresa no bɛyɛ nea etu mpɔn kɛse a, ɛsɛ sɛ wofi ase wɔ nnafua 25 kosi 28 akyi wɔ awo akyi . Ayaresa no nkonimdi gyina sɛnea nkwaadɔm mu nsakrae a ɛwɔ `ATP7A` awosu mu abɔde mu no mu yɛ den no so.

Nnuruyɛfo ma mmofra a wɔwɔ Menkes yare no kɔbere a wɔde si ananmu a wɔfrɛ no kɔbere histidine sɛ nnuru a wɔde twitwiw wɔn honam ani . Saa ayaresa yi botae ne sɛ ɛbɛma kɔbere dodow a ɛwɔ mogya no mu akɔ soro. Ebetumi nso aboa ma ntini a ɛsɛe no so atew, atew tebea horow te sɛ akisikuru so, na ama abofra no nkwa nna akyɛ.

Mɛyɛ dɛn atumi adi me ba no yare no ho sɛnkyerɛnne ahorow ho dwuma?

Esiane sɛ wɔda so ara nni Menkes Yare no ano aduru nti, nnuruyɛfo de wɔn adwene si sɛnea wobedi yare no ho sɛnkyerɛnne ahorow ho dwuma so. Ebia nnuruyɛfo kuw a wɔresa wo ba no yare no bɛyɛ nneɛma te sɛ:

• Nnuru a wɔkyerɛw ma obi de siw akisikuru ano.
• Aduan a ɛwɔ awotwaa mu ne aduan a wɔde fa afiri bi mu de boa abofra no ma ɔtwe aduannuru yiye.
• Apɔw-mu-teɛteɛ anaa adwuma mu ayaresa a wɔkamfo kyerɛ .
• Nnuru a wɔde sa ɛyaw a wɔkyerɛw ma obi .

Dɛn ne nnipa a wɔwɔ Menkes Yare no daakye?

Sɛ wɔamfi ayaresa ase ntɛm a, mmofra a wɔwɔ Menkes Yare no taa tra ase nnu mfe abiɛsa .

Sɛ wɔsa yare mpo a, bere kɔ so no, Menkes Yare no ho sɛnkyerɛnne betumi ayɛ kɛse. Mmarimaa a wɔwɔ yare no mpo betumi atra ase mfe 10 anaa nea ennu saa.

So wobetumi asiw Menkes Yare no ano?

Nea ɛyɛ awerɛhow no, wontumi nsiw Menkes Yare no ano . Sɛ wowɔ abusua muni anaa abofra bi a ɔwɔ saa tebea yi a, ɛho hia sɛ wo ne oduruyɛfo kasa na wunya awosu ho afotu .

Ansa na wobɛnyinsɛn no, wobɛtumi ayɛ awosuo mu nhwehwɛmu (Genetic testing / DNA test) de ahunu sɛ wowɔ awosuo mu nkwaadɔm a ɛde Menkes Yareɛ ba anaa. Saa nsɛm yi betumi aboa wo bere a woreyɛ abusua ho nhyehyɛe no.

Bere bɛn na ɛsɛ sɛ wokɔ oduruyɛfo nkyɛn wɔ Menkes Yare no ho?

Sɛ wususuw sɛ wo ba no wɔ Menkes Yare no ho sɛnkyerɛnne a, kɔ oduruyɛfo nkyɛn ntɛm ara . Sɛ wohu mmofra ntɛm a, ebetumi ama mmofra a wɔwɔ saa tebea yi asetra atu mpɔn.

Esiane sɛ wonya Menkes Yare no fi awo mu denam X-chromosome so nti, mmea betumi ayɛ DNA nhwehwɛmu de ahu sɛ ebia wɔwɔ awosu mu abɔde a ɛde yare no ba anaa. Ɛyɛ papa sɛ wo ne wo duruyɛfo bɛkasa afa awosu mu afotu ho ansa na woawo mma.

Sɛ wo ba wɔ Menkes Yareɛ a, wo ne wo duruyɛfoɔ nkasa mfa akwan pa a wobɛfa so adi yareɛ no ho sɛnkyerɛnne ho dwuma na w’asetena atu mpɔn. Ɛwom sɛ wonni Menkes Yare no ano aduru de, nanso nnuruyɛfo reyɛ adwumaden de ahwehwɛ akwan foforo a wɔbɛfa so ahu yare no na wɔasa. Afei nso, sɛ wobɛka akuw a wɔboa mmofra a wɔwɔ Menkes Yare no awofo ho a, ɛyɛ ɔkwan pa a wobɛfa so akyɛ osuahu ahorow na woanya awerɛkyekye.

Nneɛma a ɛho hia sen biara a ɛsɛ sɛ wokae (Take-Home Message) .

Okay, enti momma yɛnbɔ nneɛma bi a ɛsɛ sɛ wokae fi nea yɛaka ho asɛm no mu no mua:

• Menkes Yareɛ yɛ awosu mu yareɛ a ɛma nipadua no mfa kɔbere nni dwuma yie.
• Eyi taa ba mmarimaa so kɛse .
• Sɛ wo ba no ti nhwi ayɛ kurukuruwa wɔ ɔkwan a ɛyɛ nwonwa so, ayɛ kɔla a ɛyɛ hare, ayɛ mmerɛw, anaasɛ onnyin brɛoo a, hwehwɛ aduruyɛfo afotu ntɛm ara.
• Ɛho hia yiye sɛ wuhu yare no na wofi ase sa yare no ntɛm . Sɛ wofi ase sa yare wɔ awo no adapɛn 4 a edi kan no mu a, eye.
• Ɛwom sɛ wonni aduru a edi mũ de, nanso ayaresa ahorow wɔ hɔ a wɔde siw yare no ho sɛnkyerɛnne ahorow so na wɔtrɛw nkwa nna mu .
• Sɛ w’abusua abakɔsɛm wɔ nyarewa yi ho a, nyansa wom sɛ wobɛhwehwɛ awosu mu afotu .

Mewɔ anidaso sɛ saa nsɛm yi bɛboa wo. Sɛ w’adwene mu yɛ wo naa a, ɛnka akyi dodo da sɛ wo ne oduruyɛfo bɛkasa.

` Menkes yareɛ, Kɔbere, Awosu mu nyarewa, Mmofra nyarewa, Ntini, Nwi a ɛyɛ kurukuruwa, ATP7A