So wo ba no wɔ saa yare a ɛntaa nsi yi? Momma yensua Shwachman-Diamond syndrome (SDS) ho ade .

So wo ba kumaa no yare bere nyinaa? Ɛnyɛ sɛ wobɛma wo mu duru akɔ soro? Anaasɛ worehu nsakrae bi wɔ wɔn nnompe mu? Ɛtɔ mmere bi a, eyi betumi afi Shwachman-Diamond syndrome (SDS), awosu mu tebea bi a ɛntaa nsi a ɛka mmofra no. Momma yɛnka eyi ho asɛm wɔ ɔkwan tiawa bi a wubetumi ate ase so.

Dɛn ne Shwachman-Diamond yare (SDS)?

Sɛ yɛbɛka no tiawa a, Shwachman-Diamond syndrome (SDS) yɛ awosu mu yare a ɛntaa nsi a ɛka mmofra dwensɔtwaa, nnompe mu ntini, ne nnompe titiriw. Wɔtaa hu no ansa na abofra adi afe biako. Nanso, ɛtɔ mmere bi a wotumi hu wɔ mmerante ne mmabaa a wɔadu mpanyin afe so mu.

SDS yɛ yare a ɛyɛ den sɛ wobehu na wɔasa efisɛ ebetumi de sɛnkyerɛnne ahorow aba. Ebia abofra bi benya saa sɛnkyerɛnne ahorow yi biako, pii, anaa ne nyinaa. Sɛ nhwɛso no, ebia abofra biako behyia ɔhaw wɔ dwensɔtwaa ne nnompe ho, bere a abofra foforo nso betumi anya ɔhaw wɔ nnompe mu ntini ne nnompe nkutoo ho.

Ɛyɛ yare a wontumi nhu nea ɛbɛba nso . Mmofra yare no ho sɛnkyerɛnne betumi ayɛ nea emu nyɛ den anaasɛ emu yɛ den. Saa sɛnkyerɛnne ahorow yi betumi asesa bere a bere kɔ so no. Esiane sɛ mmofra a wɔwɔ SDS wɔ aduruyɛ mu haw ahorow nti, mmofra pii hia mmoa a efi nnuruyɛfo kuw bi hɔ . Ɛwom sɛ mmofra a wɔwɔ saa tebea yi behia ayaresa wɔ wɔn nkwa nna nyinaa mu de, nanso mpɛn pii no wobetumi atra ase sɛnea ɛsɛ. Nanso, mmofra ne mpanyimfo nkumaa binom betumi anya mogya mu kokoram a ɛde wɔn nkwa to asiane mu (Acute Myeloid Leukemia) anaa mogya mu yare a emu yɛ den (Myelodysplasia).

So eyi yɛ tebea a abu so?

Ɛyɛ den sɛ yɛbɛka no yiye. Nnuruyɛfo bu Shwachman-Diamond yare no sɛ tebea a ɛntaa nsi. Nanso akontaabu a ɛyɛ mmerɛw nkutoo na ɛwɔ hɔ a ɛkyerɛ mmofra dodow a wɔwɔ tebea no. Akontaabu bi kyerɛ sɛ tebea no yɛ awo 75,000 biara mu biako . Nea enti a wobu akontaa a ɛyɛ den yi ne sɛ mmofra betumi anya yare no ho sɛnkyerɛnne a emu nyɛ den anaasɛ emu yɛ den, ɛnyɛ mmofra nyinaa na wɔwɔ sɛnkyerɛnne koro, na sɔhwɛ biako biara nni hɔ a ɛyɛ pintinn a wɔde hu tebea no.

So mpanyimfo nso nya Shwachman-Diamond syndrome (SDS)?

Nea ɛnte sɛ mmofraberem aduruyɛ mu haw ahorow bi no, Shwachman-Diamond yare no nkɔ bere a mmofra nyin no. Ebia yare no ho sɛnkyerɛnne ne ayaresa bɛsakra bere a bere kɔ so no, nanso mmofra a wɔwɔ saa tebea yi behia ayaresa a wɔde wɔn nkwa nna nyinaa hwɛ .

Ɔkwan bɛn so na saa tebea yi ka me ba nipadua?

Shwachman-Diamond yare no betumi de aduruyɛ mu haw ahorow bi aba, nanso nkɛntɛnso atitiriw abiɛsa na ɛwɔ hɔ:

1. Exocrine pancreatic a ɛnyɛ adwuma yiye:Wo ba no dwensɔtwaa yɛ akwaa bi a ɛwɔ yafunu no akyi. Nkwammoaa bi a wɔfrɛ no acinar nkwammoaa na ɛwɔ mu. Saa nkwammoaa yi yɛ enzyme ahorow a ɛboa ma wɔyam aduan. Saa enzymes yi bubu aduannuru ne srade a ɛwɔ aduan mu no mu ma nipadua no betumi atwe. Wɔ mmofra a wɔwɔ SDS mu no, dwensɔtwaa no ntumi nyɛ saa enzymes yi sɛnea ɛsɛ. Ne saa nti, abofra no nnya aduannuru a ohia no.

2. Nnompe mu ntini a entumi nyɛ adwuma yiye: Wo ba no nnompe ma mogya mu nkwammoaa kɔkɔɔ, mogya mu nkwammoaa fitaa, ne mogya mu nkwammoaa kɔkɔɔ ba. Wɔ mmofra a wɔwɔ SDS mu no, nnompe mu ntini no nyɛ saa nkwammoaa yi kakraa bi sen sɛnea ɛte daa. Titiriw no, ɛnyɛ mogya mu nkwammoaa fitaa bi a wɔfrɛ no neutrophils a ɛdɔɔso . Neutrophils yɛ nkwammoaa a mpɛn pii no ɛbɔ nipadua no ho ban fi ntua te sɛ mmoawa ho. Mmofra bi a wɔwɔ SDS nni neutrophils a ɛdɔɔso a ɛbɛko atia mmoawa a wɔtow hyɛ wɔn so yi. Wɔfrɛ saa tebea yi neutropenia . Mmofra a wɔwɔ neutropenia taa nya ɔyare mmoawa te sɛ ahurututu mu yare, aso mfinimfini yare, anaa honam ani yare.

3. Nnompe a ɛnyɛ ne kwan so: Mmofra a wɔwɔ SDS betumi anya tebea horow te sɛ scoliosis, nnompe a ɛyɛ tiaa wɔ wɔn nsa ne wɔn nan mu wɔ ɔkwan a ɛnteɛ so (chondrodysplasia), anaasɛ wɔn koko a ɛyɛ teateaa a ɛte sɛ dɔn a ɛnyɛ ne kwan so (thoracic dystrophy).

Dɛn ne nsɛnnennen a ɛwɔ Shwachman-Diamond syndrome (SDS) mu?

Nnipa a wɔwɔ saa tebea yi wɔ asiane kɛse mu sɛ wobenya mogya nkwammoaa a ɛnteɛ (`(myelodysplasia)`) . Akyiri yi eyinom betumi abɛyɛ mogya mu kokoram a wɔfrɛ no `(acute myeloid leukemia)` .

Dɛn ne Shwachman-Diamond syndrome (SDS) ho sɛnkyerɛnne ahorow?

Saa tebea yi betumi aka abofra no nipadua afã horow pii. Nanso sɛnkyerɛnne a ɛtaa ba no fa dwensɔtwaa, nnompe mu ntini, ne nnompe nhyehyɛe ho. Ebia nnipa binom behu yare no ho sɛnkyerɛnne wɔ wɔn awo mu, wɔ mmofraase, anaa wɔn mmofraase. Nnipa kakraa bi betumi anya yare no ho sɛnkyerɛnne wɔ wɔn mpanyin afe so.

Nsɛnkyerɛnne a ɛtaa ba:

• Nkɔso a entumi nyɛ yiye: Eyi kyerɛ sɛ wo ba no mu duru nyɛ kɛse. Wɔ SDS fam no, ebia eyi fi aduan a wɔmfa nni dwuma yiye.
• Ɔbrɛ: Akokoaa a wabrɛ betumi ayɛ abufuw na wabrɛ.
• Nsu a ɛsõ a srade wom na ɛyɛ huam: Ebia wo ba no nsu yɛ kɛse soronko, srade wom, na ne hua yɛ fĩ.
• Nyarewa a emu yɛ den a ɛsan ba: Sɛ ɔyare mmoawa kɔ so ba a, ebetumi ayɛ SDS ho sɛnkyerɛnne.
• Nsakrae a wotumi hu wɔ nsa ne anan nnompe mu: Nkokoaa nsa ne wɔn nan betumi ayɛ tiaa sɛ wɔde toto wɔn nipadua ho a.

Dɛn na ɛde Shwachman-Diamond yare (SDS) ba?

Mmofra a wɔwɔ SDS no mu bɛyɛ 90% wɔ nkwaadɔm mu nsakrae wɔ `SBDS` awosu mu abɔde mu . Nhwehwɛmu ahorow ada no adi sɛ wobetumi anya saa nkwaadɔm mu nsakrae yi afi awofo baanu no nyinaa hɔ (`(autosomal recessive manner)`) anaasɛ efi ɔwofo biako hɔ na nkwaadɔm mu nsakrae foforo ba. Nhwehwɛmufo da so ara nnim nea enti a nkwaadɔm mu nsakrae a ɛba `SBDS` awosu mu abɔde mu no de SDS ba ankasa.

Ɔkwan bɛn so na nnuruyɛfo hu saa tebea yi?

Nnuruyɛfo bɛyɛ nipadua mu nhwehwɛmu de ahwɛ sɛnea wo ba no nyinaa te. Wɔbɛsusu wo ba no tenten ne ne mu duru na wɔde atoto mmofra afoforo a wɔn mfe akɔ anim nyin ho. Wobetumi nso ayɛ sɔhwɛ ahorow a edidi so yi:

• Mogya dodow a edi mũ (CBC) a nsonsonoe wom: Eyi kan abofra no mogya mu nkwammoaa, titiriw mogya mu nkwammoaa fitaa nyinaa.
• Pancreas dwumadi ho nhwehwɛmu: Nnuruyɛfo betumi ayɛ wo ba no nsu mu nhwehwɛmu anaasɛ wɔbɛyɛ mfonini ho nhwehwɛmu te sɛ computed tomography (CT) scans.
• Mogya mu nhwehwɛmu de hwɛ sɛnea vitamin dodow te.
• X-ray: Wobetumi ayɛ X-ray de ahwɛ sɛ nnompe mu haw bi wɔ hɔ, titiriw wɔ abofra no asen anaa ne nan mu.
• Awosu mu nhwehwɛmu: Nea ɛbɛyɛ na nnuruyɛfo ahu awosu mu nsakrae a ɛde SDS ba no, wɔhwehwɛ abofra no mogya, ne honam ani, ne ti nhwi, anaa ne ntini mu nhwɛsode ahorow mu hwɛ sɛ ebia abofra no wɔ tebea no anaa.

Ɔkwan bɛn so na wɔsa tebea yi?

Shwachman-Diamond syndrome betumi aka wo ba wɔ akwan pii so. Sɛ nhwɛso no, ebia abofra rentumi nwe aduan esiane ɔhaw ahorow a ɛwɔ dwensɔtwaa mu nti, nanso ebia wɔn nnompe mu ntini no bɛyɛ adwuma sɛnea ɛsɛ. Nsɛnkyerɛnne no betumi ayɛ nea emu nyɛ den anaasɛ emu yɛ den. Nnuruyɛfo gyina sɛnea tebea no mu yɛ den so sa nsakrae yi.

Sɛ wopɛ dwensɔtwaa mu exocrine a ɛnnɔɔso a:

Nnuruyɛfo betumi akyerɛw wo ba no anom dwensɔtwaa mu enzymes anaa vitamin ahorow a ɛtumi nwura srade mu na aboa wo ba no nipadua ma watwe aduannuru ne srade.

Sɛ nnompe mu ntini a entumi nyɛ adwuma yiye a:

Esiane sɛ tebea yi ka abofra no nnompe mu ntini nti, nnompe no ntumi mma neutrophils a ɛdɔɔso. Mpɛn pii no, nnuruyɛfo nsa nnompe mu yare, gye sɛ abofra no anya ɔhaw ahorow a emu yɛ den. Ebia ayaresa no bi ne:

• Mogya a wɔde ma: Ɛma mogya mu nkwammoaa dodow kɔ soro.
• Nkwammoaa a wɔde ma: Ɛma mogya mu nkwammoaa dodow kɔ soro na ɛboa ma mogya tu ho haw ahorow.
• Granulocyte-colony stimulating factor (G-CSF) : Saa ayaresa yi ma neutrophils dodow a ɛwɔ abofra no mogya mu nkwammoaa fitaa mu no yɛ kɛse.
• Stem cell transplantation: Nnipa binom a wɔwɔ SDS nya mogya mu kokoram anaa mogya mu yare a emu yɛ den. Nnuruyɛfo betumi de ntini mu nkwammoaa a wɔde ma obi foforo asa tebea horow yi.

Sɛ wopɛ nnompe nhyehyɛe a ɛnteɛ a:

Nnuruyɛfo taa hwɛ nnompe mu haw ahorow a SDS de ba no so. Ebia mmofra binom behia sɛ wɔyɛ wɔn nnompe oprehyɛn sɛ wɔwɔ ɔhaw ahorow a emu yɛ den a.

Henanom ne nnuruyɛ ho abenfo a wɔsa saa tebea yi?

Wohia animdefo kuw bi a wɔbɛsa Shwachman-Diamond yare no. Ebia wo ba no ayaresa kuw no bi ne:

• Mmofra ho animdefo: Nnuruyɛfo yi sa mmofra a wɔawo wɔn foforo, mmofra, ne mpanyimfo nkumaa yare. Ɛda adi sɛ wo ba no mmofra oduruyɛfo bɛkamfo akyerɛ sɛ wɔnyɛ nhwehwɛmu mfa nkyerɛ sɛ SDS wɔ hɔ anaa.
• Endocrinologists: Eyinom yɛ nnipa a wɔn ho akokwaw wɔ endocrine nhyehyɛe a ɛka abofra nyin no ho.
• Mogya ho animdefo: Eyinom yɛ nnipa a wɔn ho akokwaw wɔ mogya mu nyarewa, a ɔhaw ahorow a ɛka abofra mogya mu nkwammoaa ka ho.
• Yafunu mu yafunu ho animdefo: Nnuruyɛfo yi betumi aboa ma wɔasa wo ba no aduan mu haw ahorow.
• Awosu ho animdefo: Shwachman-Diamond yare no yɛ awosu mu yare. Saa nnuruyɛfo yi, anaa awosu ho afotufo, bɛyɛ nhyehyɛe a wɔde bɛyɛ awosu mu nhwehwɛmu de akyerɛ sɛ wo ba no tebea no te. Ebia wɔbɛsɔ wo ne wo ba no mogya abusuafo binom nso ahwɛ.
• Nnompe ho animdefo: Sɛ wo ba no wɔ nnompe mu haw a ɛsɛ sɛ wɔyɛ no oprehyɛn a, ɛho behia sɛ wokɔ nnompe ho ɔbenfo nkyɛn.

So metumi asiw eyi ano?

Shwachman-Diamond yare no yɛ tebea a wonya fi awo mu . Sɛ wunim sɛ wowɔ yare no a, ɛbɛyɛ papa sɛ wo ne awosu ho ɔbenfo bɛkasa. Sɛ wowɔ mmofra a wɔwɔ yare no a, ebia wobɛpɛ sɛ wususuw ho sɛ wobɛyɛ awosu mu nhwehwɛmu ahwɛ sɛ ebia wo mma no wɔ awosu mu nsakrae a ɛde SDS ba no anaa.

So wobetumi asa Shwachman-Diamond yare (SDS) no koraa?

Nnuruyɛfo ntumi nsa saa tebea yi koraa. Sɛ wo ba no wɔ saa tebea yi a, obehia ayaresa ne nkwa nna nyinaa.

Sɛ obi wɔ Shwachman-Diamond syndrome (SDS) a, ɛte dɛn?

Ɔkwan bi so no, Shwachman-Diamond yare no yɛ tebea a enni sabea . Sɛ wo ba no wɔ saa tebea yi a, ɛho behia sɛ wɔyɛ no nhwehwɛmu ne nhwehwɛmu daa.

• Mogya dodow a edi mũ (CBC) ne mogya mu nkwammoaa fitaa dodow, mogya nkwammoaa dodow: Nnuruyɛfo betumi ayɛ nhwehwɛmu ahorow yi asram abiɛsa kosi asia biara.
• Nnompe mu ntini mu nhwehwɛmu: Mogya ho animdefo betumi ayɛ nhwehwɛmu ahorow yi pɛnkoro afe biara kosi pɛnkoro wɔ mfe abiɛsa biara mu.
• Mogya mu nhwehwɛmu a wɔyɛ de hwehwɛ vitamin: Nnuruyɛfo betumi asusuw vitamin dodow a ɛwɔ abofra mogya mu de ahwɛ sɛ dwensɔtwaa mu enzyme ayaresa reyɛ adwuma anaa.
• Bone densitometry: Nnuruyɛfo betumi asɔ nnompe mu duru ahwɛ ansa na wɔadu mpanyin afe so ne bere a wɔreyɛ no.
• X-ray: Wobetumi ayɛ X-ray de ahwɛ sɛ ɔhaw bi wɔ wo ba no asen ne ne nkotodwe mu, titiriw wɔ mmere a onyin ntɛmntɛm no mu.
• Nkɔso mu nhwehwɛmu: Mmofra binom a wɔwɔ SDS betumi anya nkɔso ho haw ahorow, te sɛ adwene a wɔde si biribi so (ADD). Nnuruyɛfo betumi ahwɛ sɛnea obi nyin asram asia biara fi awo mu kosi mfe 6, ne onyin asram asia biara.
• Ntini mu adwene mu sɔhwɛ ne nhwehwɛmu: SDS betumi de tebea horow te sɛ adwene a wɔde si biribi so (ADD) anaasɛ nkɔso mu ɔhaw a ɛtrɛw (PDD) aba. Nnuruyɛfo betumi akamfo akyerɛ sɛ wɔnyɛ nhwehwɛmu daa bere a wɔadi mfe 6-8, 11-13, ne 15-17.

Mɛyɛ dɛn aboa me ba ma wagyina tebea yi ano?

Mmofra a wɔwɔ saa tebea yi betumi anya aduruyɛ mu haw ahorow. Ebia wobehia ayaresa a ɛbɛboa wɔn ma wɔatwe aduannuru ne srade. Ɛda adi sɛ wobenya ɔyare mmoawa. Ebia wɔn nnompe nso yɛ nea ɛnteɛ a ɛma wɔyɛ soronko wɔ afoforo ho.

Ɛmfa ho sɛnea sɛnkyerɛnne ahorow no te biara no, mmofra a wɔwɔ saa tebea yi betumi anya ade koro a ɛhaw wɔn – sɛ wɔyɛ soronko wɔ afoforo ho . Ebia wobehia ayaresa a ɛbɛma wɔatwe wɔn ho afi sukuu ne dwumadi afoforo ho. Ebia wɔn honam ani hwɛbea bɛsakra. Bere a wo ba no nyin no, nsakrae yi betumi ama ne bo afuw na wayɛ basaa. Sɛ wo ba no te saa nkate horow yi ase a, ebetumi aboa ma wadi ne nkate horow ho dwuma. Mmofra binom betumi anya mfaso sɛ wɔne adwenemyare ho ɔbenfo bɛkasa. Sɛ sɛnea wo ba no regyina ne tebea no ano ho asɛm haw wo a, bisa wo duruyɛfo ma ɔnkamfo wo.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Sɛ wo ba wɔ Shwachman-Diamond syndrome a, ɛsɛ sɛ wobɔ mmɔden sɛ wubehu nsakrae a aba wo ba no nipadua mu . SDS ho sɛnkyerɛnne taa sesa bere a bere kɔ so no. Wɔ tebea horow bi mu no, nsakrae yi betumi ayɛ nsɛnnennen a emu yɛ den ho sɛnkyerɛnne, a mogya mu kokoram ka ho.

Mmofra nipadua sakra bere nyinaa bere a wɔrefa nkokoaabere, mmofraberem, mmerantebere ne mmabaabere (titiriw mmerantebere ne mmabaabere), ne mmerantebere ne mmabaabere mu no. Ɛnyɛ bere nyinaa na nsakrae yi yɛ yare foforo anaa tebea a emu yɛ den kɛse ho sɛnkyerɛnne.

Wo ba no kɔ oduruyɛfo nkyɛn daa.Saa nhyiam ahorow a wɔyɛ no daa no ne bere a eye sen biara a ɛsɛ sɛ wubisa nsɛm fa nsakrae a ebetumi ayɛ ɔhaw a emu yɛ den kɛse ho sɛnkyerɛnne ho.

Nsɛm bɛn na ɛsɛ sɛ mibisa me duruyɛfo?

Shwachman-Diamond yare no yɛ tebea a ɛntaa nsi. Ebia wunnim mpo sɛ wowɔ bi. Nsɛmmisa bi a wubetumi abisa wo duruyɛfo ni:

• Dɛn nti na me ba no wɔ saa tebea yi?
• So ɔwɔ saa tebea yi a emu nyɛ den anaa nea emu yɛ den?
• Saa tebea yi ka me ba no dɛn?
• Dɛn ne ayaresa ahorow no?
• So me ba no yare no ho sɛnkyerɛnne bɛkɔ so asɛe?
• So ɛsɛ sɛ wɔyɛ me ba no nuanom afoforo no mu nhwehwɛmu hwɛ sɛ wɔwɔ awosu anaa?
• So ɛsɛ sɛ me ne abofra no awofo foforo a ɔwoo no no yɛ awosu mu nhwehwɛmu?
• Mɛyɛ dɛn aboa me ba ma wadi ayaresa ho dwuma?

Awiei koraa no, ade a ɛho hia sen biara (Take-Home Message) .

Shwachman-Diamond syndrome yɛ tebea a ɛntaa nsi, a wonya fi awo mu a ɛka mmofra nyin, sɛnea ɛyɛ mmerɛw sɛ wobenya ɔyare mmoawa, ne nnompe a ɛnyɛ ne kwan so. Bere a mmofra binom nya yare no ho sɛnkyerɛnne a emu nyɛ den no, mmofra a wɔwɔ yare no nyinaa behia ayaresa a wɔde ma wɔn nkwa nna nyinaa. Sɛ wo ba wɔ Shwachman-Diamond syndrome a, ebia wobɛte nka sɛ nea ɛbɛba daakye a wuntumi nsi pi no ahyɛ wo so. Sɛ wowɔ saa tebea yi mu a, ka nea ɛhaw wo ho asɛm kyerɛ wo ba no nnuruyɛfo. Wɔte sɛnea ɛte sɛ abofra a ɔwɔ yare a emu yɛ den, ɛtɔ mmere bi a wɔnhwɛ kwan ho a wɔbɛhaw no na wɔahwɛ no ase. Ɛnyɛ sɛ wobetumi aboa wo ba no ma wagyina yare no ano nko, na mmom wobetumi aboa no ma watra ase yiye nso. Na wɔn ani gye sɛ wɔbɛboa wo ma woaboa wo ba no. Mma nte nka da sɛ wo nkutoo na wowɔ hɔ, na srɛ mmoa.

` Shwachman-Diamond syndrome, SDS, awosu mu nkwaadɔm a ɛnteɛ, dwensɔtwaa, nnompe mu ntini, nnompe a ɛnteɛ, mmofra nyarewa, neutropenia