So wo ba kumaa no wɔ saa sɛnkyerɛnne ahorow yi? Momma yensua Sanfilippo Syndrome ho ade

So worehu nsakrae bi a aba wo ba kumaa no suban, ne kasa, anaa ne honam ani hwɛbea mu a ɛyɛ den ma wo sɛ wobɛte ase? Ɛtɔ da bi a, yennim nyarewa bi a ɛka mmofra nkumaa ho nsɛm pii, enti yefi ase susuw nneɛma bi ho. Ɛnnɛ, yɛbɛka tebea bi a ɛyɛ den kakra, nanso ɛsɛ sɛ obiara hu ho asɛm. Wɔfrɛ eyi Sanfilippo yare . Mma ɛnhaw wo, yɛbɛka ho asɛm akɔ akyiri na yɛayɛ no tiawa.

Dɛn ne Sanfilippo Yare no?

Sɛ yɛbɛka no tiawa a, Sanfilippo yare no yɛ awosu mu yare a wonya fi awo mu . Ɛyɛ nyarewa kuw bi ankasa. Ɛka wo ba no ntini a ɛwɔ mfinimfini , a ɛyɛ amemene ne n’akyi berɛmo no titiriw. Eyi betumi de sɛnkyerɛnne ahorow aba abofra no adwene, ne nneyɛe, ne ne nipadua mu. Nea ɛyɛ awerɛhow no, bere kɔ so no, saa sɛnkyerɛnne ahorow yi taa mu yɛ den, na saa tebea yi betumi ama mmofra nkwa nna ayɛ tiaa.

Edin foforo a wɔde frɛ eyi ne mucopolysaccharidosis type III (MPS III) .

Susuw ho hwɛ, wɔ yɛn nkwammoaa mu no, "mmeae a wɔtow nwura gu" nketewa wɔ hɔ. Wɔfrɛ eyinom lysosomes . Eyinom ne nea ɛpaapae na eyi nneɛma a wɔmpɛ, anaa "nwura" a ɛboaboa ano wɔ nkwammoaa no mu no fi hɔ. Abofra a ɔwɔ Sanfilippo yare no nni enzyme anan a ehia na ama wɔabubu carbohydrate a ɛyɛ den a wɔfrɛ no heparan sulfate ( wɔsan frɛ no glycosaminoglycan ) no mu biako. Esiane sɛ saa enzyme yi ntumi nyɛ adwuma yiye nti, ade a wɔfrɛ no heparan sulfate no boaboa ano wɔ abofra no nkwammoaa, ntini, ne akwaa mu. Saa nneɛma a ɛboaboa ano yi sɛe wɔn. Eyi ne nea yɛfrɛ no lysosomal storage disorder .

So Sanfilippo Syndrome ahorow bi wɔ hɔ?

Yiw, eyi ahorow atitiriw anan na ɛwɔ hɔ. Enzyme soronko bi a enni hɔ na ɛde ɔkwan biara so ba.

• Ɔkwan A: Enzyme sulfamidase a enni hɔ.
• Ɔkwan B: Enzyme alpha-N-acetylglucosaminidase a enni hɔ.
• Ɔkwan C: Enzyme heparan acetyl CoA: alpha-glucosaminide N-acetyltransferase a enni hɔ.
• Ɔkwan D: Enzyme N-acetylglucosamine 6-sulfatase a enni hɔ.

Eyinom mu no, type A ne subtype a abu so sen biara wɔ wiase nyinaa , bere a type D na ɛnyɛ nea ɛtaa ba.

Saa tebea yi abu so dɛn?

Sanfilippo syndrome yɛ tebea a ɛntaa nsi koraa.. Sɛnea nhwehwɛmufo kyerɛ no, eyi ka nnipa bɛyɛ 50,000 kosi 250,000 biara mu biako. Enti wubetumi ahu sɛnea eyi ho yɛ na.

Dɛn ne Sanfilippo Syndrome ho sɛnkyerɛnne ahorow?

Tebea yi ho sɛnkyerɛnne ne sɛnea emu yɛ den no betumi ayɛ soronko wɔ abofra biara mu, na egyina yare ko a ɔwɔ so nso. Nsɛnkyerɛnne a edi kan a wobetumi ahu wɔ mmofra a wɔawo wɔn foforo ne mmofra nkumaa mu no bi ne:

• Anim a ɛyɛ mmerɛw .
• Aniwa nhwi a emu da hɔ na ɛtrɛw.
• Nipadua mu nhwi a ɛboro nea ɛfata (hirsutism) a obi wɔ no so tew bere kɔ so no.
• Ɛsõ sen ti kɛse a ɛfata (macrocephaly).
• Dae mu haw, nna a ɛyɛ den sɛ wobɛda.
• Ɔhome mu haw, sɛ nhwɛso no, aso ne/anaasɛ hwene a ɛyɛ den, ahome a ɛyɛ den.
• Yafunu mu yaw a emu yɛ den ne osu (nsɛm a ɛte sɛ akisikuru).
• Atiridiinini a ɛtaa ba.

Ebia worenhu saa nsɛnkyerɛnne a edi kan yi ntɛm ara. Bere a wo ba no nyin no, sɛnkyerɛnne afoforo a ɛfa Sanfilippo yare no ho befi ase ada adi. Mpɛn pii no saa sɛnkyerɛnne ahorow yi da adi wɔ mfe 1 kosi 4 ntam .

Su ahorow a ɛfa ntini ne nneyɛe ho:

• Ɔkasa ne kasa ho nimdeɛ a ɛkyɛ (mpɛn pii no ɛyɛ sɛnkyerɛnne a edi kan).
• Abofra nkɔso kyɛ a biribiara nni hɔ a ɛde ba (non-specific developmental delay).
• Adwene mu tumi so tew bere kɔ so.
• Suban a ɛyɛ basabasa anaasɛ ɛsɛe ade .
• Nneɛma a wɔyɛ no boro so.
• Suban a asɛyɛde nnim, abufuw a ɛpae mpofirim (abufuw a ɛyɛ den).
• Nneɛma a asiane wom a wonsuro.
• Mpɛn pii a ɔbɛka, atetew, anom nufu, anaa ɔbɛmene (hyperorality).
• Ahomegye a wonni.
• Dae ho haw - suro a wosuro se wobeda, parasomnias, nna mu ahomegye.
• Nsakrae a ɛba wɔ nantew mu, sɛ nhwɛso no, nansoaa a wɔde nantew .
• Nipadua a ɛyɛ den, spasticity.
• Akisikuru a ɛma obi ho kyere no.

Aso, hwene, ne menewa mu sɛnkyerɛnne:

• Aso a ɛyɛ mmerɛw.
• Aso mu yare a ɛtaa ba (otitis).
• Anom a ɛyɛ den bere nyinaa.
• Ɛho hia sɛ woyi adenoids ne tonsils no (adenotonsillectomy) ntɛm sen mmofra a wɔte apɔw.

Nsɛnkyerɛnne afoforo:

• Akisikuru anaa akisikuru a ɛtra hɔ kyɛ.
• Ayamtim.
• Yafunu mu a ɛyɛ yaw.
• Koma mu nnyigyei a ɛnkɔ so pɛpɛɛpɛ (arrhythmia).
• Koma ntini mu yare (cardiomyopathy).
• Nkwaa a ɛyɛ den.
• Scoliosis a ɛma obi ho kyere no.

Dɛn na ɛde Sanfilippo Syndrome ba?

Sɛnea yɛadi kan aka no, Sanfilippo yare no yɛ Lysosomal Storage Disease (LSD).Ɛyɛ awosu mu yare a ɛka kuw a wɔfrɛ no no ho. Nnipa a wɔwɔ saa yare yi boaboa nneɛma a awuduru wom ano wɔ wɔn nipadua mu nkwammoaa mu. Nea enti a ɛte saa ne sɛ enzyme ahorow bi a ɛwɔ wɔn nipadua mu no nyɛ adwuma yiye anaasɛ enni hɔ . Sɛ saa enzymes yi nni hɔ a, yɛn nipadua no ntumi nsɛe nneɛma bi mfi hɔ. Ɛyɛ bere a wɔboaboa ano wɔ nipadua no mu na ɛbɛyɛ nea epira.

Wɔ Sanfilippo yare no mu no, enzyme anan a ɛboa ma ade bi a wɔfrɛ no heparan sulfate bubu no mu biako nni hɔ. Afei heparan sulfate boaboa ano wɔ nkwammoaa mu na ɛsɛe wɔn. Saa nneɛma a ɛboaboa ano yi ka abofra no amemene mu nkwammoaa kɛse .

Saa enzyme a enni hɔ yi fi awosu mu nsakrae , titiriw nsakrae a ɛba awosu mu nkwaadɔm te sɛ SGSH awosu mu nkwaadɔm mu .

Abofra no nya awosu mu nsakrae yi fi awofo baanu no nyinaa hɔ. Wɔfrɛ eyi sɛ autosomal recessive nhyehyɛe a ɛfa agyapade ho. Eyi kyerɛ sɛ ɛsɛ sɛ awofo baanu no nyinaa yɛ awosu mu abɔde a wɔasesa no kurafo. Nanso, mpɛn pii no, obi a ɔwɔ saa awosu mu abɔde yi nkyerɛ yare no ho sɛnkyerɛnne.

Wobɛyɛ dɛn ahu yare yi pɛpɛɛpɛ?

Esiane sɛ Sanfilippo yare no ho yɛ na na ne sɛnkyerɛnne te sɛ tebea afoforo a ɛtaa ba nti , mpɛn pii no wobetumi akyɛ sɛ wobehu yare no. Ebia nnuruyɛfo behu tebea no wɔ ɔkwan a ɛnteɛ so sɛ ɛyɛ nkɔso a ɛkyɛ, Attention-Deficit/Hyperactivity Disorder (ADHD) , anaa autism .

Wo ba no oduruyɛfo bɛyɛ nipadua mu nhwehwɛmu ne ntini mu nhwehwɛmu. Wobebisa wo ba no yare no ho sɛnkyerɛnne ne n’ayaresa ho abakɔsɛm nso. Ebia wɔbɛhyɛ sɛ wɔnyɛ sɔhwɛ ahorow nso de yi tebea afoforo afi hɔ.

Nhwehwɛmu ahorow a ɛboa ma wohu sɛ obi anya Sanfilippo yare no ne:

• GAG nsu mu nhwehwɛmu: Wɔhwɛ sɛ abofra no nsu mu nsu bi wɔ hɔ anaa sɛ ebia biribi a wɔfrɛ no glycosaminoglycans (GAG) .
• Enzyme nhwehwɛmu: Wɔsusuw enzyme ahorow a ɛfa ho no dwumadi wɔ mogya mu.
• Awosu mu nhwehwɛmu: Saa nhwehwɛmu yi betumi ahwɛ awosu mu nsakrae (nsakrae) a wonim sɛ ɛne Sanfilippo yare no wɔ abusuabɔ anaa.

Nea ɛka ho no, oduruyɛfo no betumi akamfo akyerɛ sɛ wɔnyɛ nhwehwɛmu afoforo de hwɛ sɛ ebia biribi asɛe abofra no akwaa anaa ne ntini ahorow anaa. Nhwɛsoɔ:

• Amemene mu MRI mfoninitwa.
• Aniwa mu nhwehwɛmu.
• Nsɔhwɛ a wɔde yɛ aso.
• Koma mu nhwehwɛmu - te sɛ echocardiogram ne electrocardiogram (EKG) .
• Nna ho adesua.
• X-ray nhwehwɛmu ahorow.

Nhwehwɛmu a wɔyɛ ansa na wɔawo

Sɛ obi a ɔwɔ w’abusua mu anya Sanfilippo yare no a, ebia wo duruyɛfo bɛkamfo akyerɛ sɛ ɔnsɔ wo ba a ɔhyɛ yafunu mu no nhwɛ tebea no mu bere a wanyinsɛn no. Wobetumi ayɛ eyi denam sɔhwɛ ahorow te sɛ amniocentesis anaa chorionic villus sampling so .

Dɛn ne ayaresa a wɔde sa Sanfilippo Syndrome?

Nea ɛyɛ awerɛhow no, mprempren wonni ayaresa anaa aduru biara a ɛsakra yare a wɔde sa Sanfilippo yare no . Ayaresa no twe adwene si sɛnkyerɛnne ahorow a wɔhwɛ so ne ɔhwɛ a ɛma obi ho dwo so titiriw . Esiane sɛ tebea no ka abofra akwahosan afã horow pii nti, nnuruyɛfo kuw a wɔyɛ adwuma ahorow pii ho hia na wɔasa abofra no yare. Ebia kuw yi bi ne:

• Mmofra nnuruyɛfo.
• Mmofra ntini ho animdefo.
• Apɔw-mu-teɛteɛ ho animdefo.
• Adwuma mu ayaresa ho animdefo.
• Ɔkasa ne kasa mu nyarewa ho animdefo.
• Otolaryngologists (aso, hwene, ne menewa ho animdefo).
• Mmofra adwene ho animdefo.
• Asetra mu nsɛm ho adwumayɛfo.
• Akyerɛkyerɛfo titiriw.

Saa animdefo yi kamfo nnuru, ayaresa, ne mfiri a wɔde boa a wɔayɛ ama abofra no ahiade kyerɛ. Botae atitiriw a ɛwɔ ayaresa mu ne sɛ wɔbɛma abofra no apɔw-mu-teɛteɛ akɔ so ayɛ adwuma, ama ne tumi ayɛ kɛse, na wɔakura asetra a ɛkorɔn sen biara mu.

Ebia wo ba nso benya hokwan de ne ho ahyɛ ayaresabea sɔhwɛ bi mu . Bisa wo ba no aduruyɛ kuw no eyi ho asɛm. Mprempren nhwehwɛmufo reyɛ ayaresa pɔtee a wɔde sa Sanfilippo yare no ho ade. Nhwɛsoɔ:

• Enzyme a wɔde si ananmu ayaresa.
• Stem cell a wɔde si ananmu.
• Gene therapy.

Wɔ yare no fã a edi akyiri mu no, nea ɛho hia wɔ ayaresa mu ne sɛ wɔbɛkɔ so akura asetra pa mu na wɔasiw nsɛnnennen ano.

Sɛ me ba no wɔ Sanfilippo Syndrome a, dɛn na ɛsɛ sɛ mehwɛ kwan?

Sɛ wo ba wɔ Sanfilippo syndrome a, ɛda adi sɛ wobɛtaa akɔ ayaresabea na wɔayɛ nhwehwɛmu. Ebetumi ayɛ den sɛ yɛbɛte tebea a emu yɛ den yi ase prɛko pɛ. Nanso kae sɛ wo ba no aduruyɛ kuw no ka wo ho wɔ anammɔn biara a wobɛtu. Esiane sɛ ɛsono sɛnea Sanfilippo yare no ka abofra biara nti, wo ba no aduruyɛ kuw no betumi atu wo fo yiye wɔ nea ɛbɛba wo ba ne w’abusua daakye ho.

Wɔ Sanfilippo yare no fã a edi akyiri mu no, wo ba no betumi anya nea edidi so yi mpɛn pii:

• Nkitahodi a ɛda wɔne nneɛma a atwa wɔn ho ahyia ntam no so tew.
• Adwene mu yare .
• Ntini a ɛma nipadua no yɛ adwuma te sɛ nantew, kasa, ne adidi a ɛyera.

Akwahosan ho haw ahorow yi mu yɛ den bere a bere kɔ so no, na awiei koraa no, ebetumi akowie owu mu. Ɔhome mu yare, titiriw ahurututu mu yare , na ɛtaa ma obi wuwu.

Dɛn ne obi a ɔwɔ Sanfilippo Syndrome nkwa nna?

Wɔ nhwehwɛmu bi a wɔyɛe wɔ ayarefo 113 a wɔwɔ Sanfilippo yare no ho mu no, sɛ wɔkyekyem pɛpɛɛpɛ a, na wɔn nkwa nna yɛ:

• Ɔkwan A: Wɔadi fi mfe 11 kosi 19.
• Ɔkwan B: Odi mfe 12 kosi 16.
• Ɔkwan C: Wɔadi mfe 14 kosi 32.

Type D ho yɛ na koraa, enti nsɛm a ɛdɔɔso nni hɔ a ɛfa ho.

Nanso, nea ɛho hia sen biara no, ɛsono abofra biara a ɔwɔ Sanfilippo yare no . Wo ba no aduruyɛ kuw no bɛyɛ onipa a oye sen biara a wɔbɛma woanya sɛnea tebea no bɛka wo ba no akwahosan ho adwene pa.

So wobetumi asiw Sanfilippo Syndrome ano?

Esiane sɛ Sanfilippo yare no yɛ awosu mu yare nti, biribiara nni hɔ a wubetumi ayɛ de asiw ano .

Ansa na wobɛwo ba no, sɛ asiane a ɛwɔ hɔ sɛ wode Sanfilippo yare anaa awosu mu tebea afoforo bɛma wo ba no haw wo a, ɛbɛyɛ papa sɛ wo ne oduruyɛfo bɛkasa na woanya awosu mu afotu .

Sɛ me ba no wɔ Sanfilippo Syndrome a, ɔkwan bɛn so na ɛsɛ sɛ mehwɛ no?

Sɛ wo ba wɔ Sanfilippo syndrome a, ɛho hia yiye sɛ wohwɛ hu sɛ wobenya ayaresa a eye sen biara . Sɛ wokamfo wo ba no kyerɛ a, wubetumi aboa ma wahwɛ ahu sɛ obenya asetra a eye sen biara.

Wo ne w’abusua nso betumi akɔka mmoa kuw bi a mubetumi ahyia nnipa afoforo a wɔanya osuahu a ɛte saa ara. Eyi betumi ayɛ ahoɔden fibea kɛse.

Tebea horow a ɛma ntini ahorow no yɛ mmerɛw nkakrankakra, te sɛ Sanfilippo syndrome, betumi anya wo ne w’abusua adwenemyare ne asetra pa so nkɛntɛnso bɔne kɛse. Awofo ne wɔn a wɔhwɛ mmofra a wɔwɔ Sanfilippo yare no wɔ asiane kɛse mu sɛ wobenya tebea horow te sɛ Post-Traumatic Stress Disorder (PTSD) . Enti, ɛsɛ sɛ wohwɛ w’adwene mu akwahosan nso. Sɛ worehyia adwenemhaw, dadwen, anaa adwennwen a ɛkyɛ a, hwɛ hu sɛ wobɛkɔ adwenemyare ho oduruyɛfo anaa ɔfotufo nkyɛn.

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

Ɛsɛ sɛ woma wo ba no aduruyɛ kuw no hwɛ wɔn daa asram 6 kosi 12 biara (anaasɛ mpɛn pii) na ama wɔahu nsakrae a aba wɔ wɔn adwene mu tumi, wɔn nipadua mu ahoɔden, ne wɔn nneyɛe mu. Sɛ wuhu sɛnkyerɛnne foforo biara, anaasɛ ɛte sɛ nea wo sɛnkyerɛnne no reyɛ kɛse a, wo ne wo ba no aduruyɛ kuw no nkasa ntɛm ara.

Nea etwa to no, nneɛma a ɛsɛ sɛ yɛkae

Ɛyɛ ade a ɛfata sɛ wobɛte nka sɛ woayɛ basaa na wo ho adwiriw wo bere a wote sɛ wɔahu sɛ wowɔ Sanfilippo yare no. Nanso kae sɛ wo ba no aduruyɛ kuw no de nhyehyɛe a edi mũ a ɛfa wo ba no ho bɛma. Ɛho hia sɛ wohwɛ hu sɛ wo, wo ba, ne w’abusua benya mmoa a wohia, na moma w’ani da hɔ wɔ wo ba no akwahosan ho. Wo ba no aduruyɛ kuw no ayɛ krado sɛ wɔbɛboa wo wɔ anammɔn biara a wobɛtu. Mma wo ho nnpopo, fa akokoduru gyina saa asɛnnennen yi ano. Mma ntwentwɛn wo nan ase sɛ wubesua nsɛm a wuhia, abisa nsɛm, na woanya mmoa a wuhia.

` Sanfilippo syndrome, awosu mu nyarewa, mmofra nyarewa, ntini nhyehyɛe, enzymes, mucopolysaccharidosis