So wunim Alport Syndrome ho asɛm? Momma yɛnka ho asɛm!

So woahyɛ no nsow pɛn sɛ mogya kakra wɔ wo nsu mu? Anaasɛ ɛtɔ da bi a wote nka sɛ w’aso yɛ mmerɛw kakra, anaasɛ w’ani so yɛ soronko kakra? Eyinom yɛ nneɛma a ɛtɔ mmere bi a yɛmfa yɛn adwene nsi so kɛse wɔ yɛn da biara da asetra mu. Nanso ɛtɔ mmere bi a, ebia tebea bi wɔ sɛnkyerɛnne nketenkete yi akyi, te sɛ Alport Syndrome . Enti ɛnnɛ yɛbɛka eyi ho asɛm wɔ ɔkwan tiawa bi so a wubetumi ate ase.

Dɛn ne Alport Syndrome?

Sɛ yɛbɛka no tiawa a, Alport syndrome yɛ awosu mu tebea a w’asaabo ntumi nyɛ Type IV collagen protein ahorow sɛnea ɛsɛ.

Susuw ho hwɛ, saa ``Type IV collagen'' yi yɛ collagen nkɔnsɔnkɔnsɔn abiɛsa (alpha nkɔnsɔnkɔnsɔn) a wɔakyinkyim no te sɛ hama. Wɔfrɛ saa nkɔnsɔnkɔnsɔn yi alfa 3, alfa 4, ne alfa 5. Afei, sɛ wo nipadua no antumi annye nkɔnsɔnkɔnsɔn yi mu biara a, abien a aka no ntumi nkabom. Ɛno ne bere a Alport yare no ho sɛnkyerɛnne a emu yɛ den sen biara no ba.

Ɛtɔ da bi a, nkɔnsɔnkɔnsɔn yi nyinaa yɛ wo nipadua mu, nanso sɛ emu biako anhyehyɛ yiye a, ɛtɔ da bi a nkɔnsɔnkɔnsɔn no ntumi nkabom, anaasɛ sɛ ɛka bom mpo a, ɛnyɛ adwuma yiye. Wɔ tebea horow yi mu no, ebia sɛnkyerɛnne ahorow no so bɛtew kakra.

Saa protein yi a wɔfrɛ no ``Type IV collagen'' no ho hia yiye ma ntini a ɛsesa wɔ w'asaabo mu, ``glomerular basement membranes anaa GBM''. Saa ``(GBM)'' yi ne deɛ ɛsepa wo mogya, ɛtetew awuduru ne nneɛma foforɔ a nipadua no nhia na ɛboa ma ɛyɛ nsuo. Ɛboa nso ma nneɛma te sɛ mogya mu nkwammoaa ne protein a ɛwɔ mogya no mu kɔ so tra mogya no mu sen sɛ ɛbɛkɔ nsu mu.

Afei, sɛ saa `(GBM)` yi ntumi nyɛ adwuma yiye a, mogya anaa protein betumi akɔ wo nsu mu. Bere kɔ so no, tumi a w’asaabo tumi yi nsu mu no nso so tew. Eyi ma asiane a ɛwɔ hɔ sɛ asaabo bedi huammɔ no yɛ kɛse.

Nanso eyi nka asaabo no nko. Saa ``Type IV collagen'' yi nso wɔ w'aso ne w'ani mu. Enti, asaabo mu haw akyi no, obi a ɔwɔ Alport syndrome nso betumi anya anisoadehu ne aso mu haw.

Yɛyɛ dɛn nya eyi fi awo mu?

Alport yare no awosu mu nneɛma atitiriw abiɛsa na ɛwɔ hɔ. Momma yɛnhwɛ nea wɔyɛ.

Alport yare a ɛne X wɔ abusuabɔ (XLAS) .

Eyi ne wo X chromosome no wɔ abusuabɔ. X chromosome no yɛ wo nna mu nkwaadɔm abien (X ne Y) no mu biako. Ɛwɔ gene a ɛma alpha 5 nkɔnsɔnkɔnsɔn `(COL4A5)`.

Afei, hwɛ, ɔbarima bi wɔ X chromosome biako ne Y chromosome biako. Ɔbea wɔ X chromosome abien. Esiane sɛ mmarima wɔ X chromosome biako pɛ a asɛe nti, ɛda adi sɛ wobenya yare no ho sɛnkyerɛnne a emu yɛ den. Esiane sɛ mmea wɔ X chromosome biako a asɛe ne X chromosome biako a ɛte apɔw nti, wɔn yare no ho sɛnkyerɛnne taa yɛ mmerɛw.

Ɔbarima bi de ne Y chromosome ma ne mmabarima. Enti, wontumi mfa `(XLAS)` mma wɔn mmabarima. Nanso, ɔbarima bi de ne X chromosome no kɔma ne mmabea nyinaa. Enti, ne mmabea nyinaa betumi anya Alport syndrome.

Ɔbea de ne X chromosome abien no biako ma ne ba, ɛmfa ho sɛ abofra no yɛ abarimaa anaa abeawa. Enti, ɔwɔ hokwan 50% sɛ ɔde `(XLAS)` bɛma abofra biara.

Saa `(XLAS)` yi ne Alport syndrome a ɛtaa ba. Alport syndrome ayarefo nyinaa mu 60% kɔsi 80% yɛ saa ɔkwan yi mufoɔ.

Alport yare a ɛma obi ho kyere no (ARAS) .

"Autosomal" kyerɛ autosomal awosu mu nkwaadɔm abien abien abien no. "Autosomal recessive" kyerɛ agyapadeɛ ho nhwɛsoɔ. Sɛ ɔwofo biako wɔ autosomal recessive su bi a, wɔrenkyerɛ yare no ho sɛnkyerɛnne. Sɛ wɔde bɛma wɔn mma a, ɛsɛ sɛ awofo baanu no nyinaa kura su no. Nanso, esiane sɛ wonni yare no ho sɛnkyerɛnne biara nti, wonnim mpo sɛ wɔwɔ bi.

Wɔ Alport syndrome mu no, awosu mu nkwaadɔm a ɛkyerɛw alpha 3 (COL4A3) ne alpha 4 (COL4A4) protein ahorow no wɔ chromosome 2. "Recessive" kyerɛ sɛ nsakrae a ɛba awosu mu nkwaadɔm abien no nyinaa mu ho hia na ama yare no aba.

Enti, wɔ `(ARAS)` mu no, nsakrae bi wɔ awosu mu nkwaadɔm a ɛkyerɛw alpha 3 anaa alpha 4 protein ahorow a ɛwɔ chromosome 2. `(ARAS)` nnyina ɔbarima ne ɔbea nna so, enti agyapade ne sɛnea sɛnkyerɛnne ahorow no mu yɛ den no yɛ pɛ ma obiara.

Sɛ wowɔ `(ARAS)` a, wo mma wɔ hokwan 50% sɛ wɔde saa awosu mu nkwaadɔm a ɛdi mfomsoɔ yi mu baako bɛma. Mpɛn pii no, eyi mma obi nnya Alport yare no. Nanso, hokwan 25% wɔ hɔ sɛ wode awosu mu nkwaadɔm abien no nyinaa a mfomso wɔ ho bɛma wo mma. Sɛ eyi ba a, wo ba no benya `(ARAS)`.

(ARAS) yɛ ayarefo a wɔwɔ Alport syndrome no mu bɛyɛ 15%.

Alport yare a ɛma nipadua no tumi yɛ adwuma (ADAS) .

"Dominant" kyerɛ sɛ yare bi betumi afi mutation a ɛba awosu mu abɔde biako pɛ mu wɔ awosu mu nkwaadɔm abien mu. Wɔ ADAS mu no, nsakrae bi wɔ awosu mu nkwaadɔm a ɛkyerɛw protein COL4A3 anaa COL4A4 a ɛwɔ chromosome 2 so no biako mu.

ADAS nnyina ɔbarima ne ɔbea nna so, enti sɛnea wonya yare no fi awo mu ne sɛnea emu yɛ den no yɛ pɛ ma obiara.

Sɛ wowɔ ADAS a, ɛyɛ 50% sɛ wo mma no de saa awosu mu abɔde a ɛtɔ sin yi bɛma wɔn na wɔanya ADAS.

(ADAS) yɛ ayarefoɔ a wɔwɔ Alport syndrome no mu 25% kɔsi 35%.

Henanom na eyi ka wɔn? Ɛtaa ba dɛn?

Alport syndrome betumi aka obiara. Ɛyɛ tebea a wonya fi awo mu, a ɛkyerɛ sɛ awofo biako anaa wɔn baanu nyinaa de ma wɔn ba. Nanso, wɔ bɛyɛ 15% mu no, sɛ awofo baanu no nyinaa nni awosu mu abɔde a wɔayɛ no foforo no mpo a, ebetumi aba.

Nnuruyɛfo susuw sɛ Alport yare no yɛ tebea a ɛntaa nsi.Nhwehwɛmufo ka sɛ nnipa a wɔwɔ United States no nnu 200,000 na wɔwɔ bi. Wɔ wiase nyinaa no, nea abu so no bɛyɛ mmofra a wɔawo wɔn a wɔte ase 50,000 biara mu biako. Nanso, bere a nhwehwɛmufo kɔ so sua eyi ho ade no, wɔrehu nnipa a wɔn yare no ho sɛnkyerɛnne kakraa bi. Enti ebia Alport yare no abu so sen sɛnea wonim mprempren no.

Ɔkwan bɛn so na Alport yare no ma asaabo yɛ adwuma yiye?

Sɛ wowɔ Alport syndrome a, glomerular basement membranes a madi kan aka ho asɛm no ntumi yiyi mu yiye. Enti mogya ne protein ahorow tu kɔ nsu no mu. Ɛnyɛ ɛno nko, na mmom nkwammoaa a ɛwɔ saa ntini ahorow no afã abien no nyinaa nnya mmoa a ɛfata. Afei saa nkwammoaa no bo fuw na ɛyɛ hyew . Saa nkwammoaa a wɔfrɛ no podocytes yi na ɛyɛ GBM no. Sɛ nkwammoaa a atwa ho ahyia no ho hyew a, saa podocytes yi bɔ mmɔden sɛ wɔde type IV collagen pii bɛhyɛ GBM no mu. Sɛ ɛba saa a, GBM no yɛ kɛse na ɛnyɛ nhyehyɛe. Eyi ne nea ɛma protein tu kɔ nsu mu (proteinuria).

Bere kɔ so no, bere a protein pii kɔ nsu no mu no, GBM no yɛ den, na akuru ntini (fibrosis) betumi ayɛ. Ne saa nti, w’asaabo fi ase hwere tumi a ɛde tew wo mogya ho no. Wɔfrɛ eyi asaabo mu yare a enni sabea (CKD). Bere a akuru no mu ntini pii dɔɔso no, asaabo no dwumadi sɛe, na awiei koraa no asaabo no gyae adwumayɛ (asaabo a entumi nyɛ adwuma yiye).

Dɛn ne Alport yare no ho sɛnkyerɛnne atitiriw?

Nsɛnkyerɛnne no betumi ayɛ soronko a egyina ko a wowɔ no so. Nsɛnkyerɛnne titiriw a ɛkyerɛ ne sɛ:

• Mogya a ɛwɔ nsu mu a wuntumi nhu (microscopic hematuria).
• Protein a ɛwɔ nsu mu (proteinuria).
• Asaabo mu yare a enni sabea (CKD) anaa asaabo a entumi nyɛ adwuma yiye.
• Aso a ɛyɛ mmerɛw.
• Aniwa ho haw ahorow.

Alport yare no ho sɛnkyerɛnne a edi kan ne mogya a ɛba nipadua no mu a wotumi hu ade ketewaa bi. Eyi kyerɛ sɛ wo GBM a asɛe no rema mogya mu nkwammoaa kɔkɔɔ akɔ wo nsu mu. Eyi nyɛ nea aniwa nkutoo nhu, nanso wobetumi ahu wɔ afiri a wɔde hwɛ nneɛma nketenkete mu nkutoo. Mmarima a wɔwɔ XLAS ne obiara a ɔwɔ ARAS betumi anya mogya a ɛyɛ ketewaa bi fi awo mu. Mmea pii a wɔwɔ XLAS no nya mogya a ɛyɛ ketewaa bi bere kɔ so no. Ɛnyɛ obiara a ɔwɔ ADAS na onya mogya mu ntini nketenkete.

Asaabo mu yare a enni sabea (CKD) ba bere a asaabo dwumadi fi ase brɛ ase no. Nnipa pii nkyerɛ CKD ho sɛnkyerɛnne kosi sɛ wontumi nyɛ wɔn asaabo oprehyɛn.

Nsɛnkyerɛnne a ɛkyerɛ sɛ asaabo ntumi nyɛ adwuma yiye:

• Ɔhonhon (edema), titiriw wɔ nsa anaa nansoaa ho.
• Ɔbrɛ a ɛtra so.
• Akisikuru ne ɔfe.
• Ntini mu akisikuru.

Aso a ɛyɛ mmerɛw abu so wɔ mmarima a wɔwɔ XLAS ne ARAS mu. Nanso ebetumi ato obiara a ɔwɔ Alport yare no. Aso a ɛyɛ mmerɛw no ba nkakrankakra. Nnipa pii nhu kosi sɛ ɛbɛkyɛ dodo. Ɛyɛ den ma nnipa pii sɛ wɔbɛte nnyigyei a ano yɛ den, na awiei koraa no ebinom betumi ahwere aso nyinaa. Ebia awiei koraa no, ebehia sɛ wode mfiri a wɔde boa aso di dwuma. Wɔ tebea horow a emu yɛ den mu no, ebia wobɛhwere w’aso koraa mpo (asotiw).

Ɔhaw ahorow nso wɔ aniwa no ho. Nnipa binom taa nya ani a ɛyɛ mmerɛw, na egye bere tenten ansa na ayɛ yiye. Eyi betumi ama aniwa ayɛ nsu na ayɛ yaw, nanso mpɛn pii no ɛmma aniwa nhu ade yiye. Nnipa binom wɔ ɔhaw ahorow wɔ aniwa no fã a emu da hɔ, ahwehwɛ a ɛboa ma wohu ade yiye no ho, na awiei koraa no wobetumi anya aniwa a ɛyɛ mmerɛw.

Sɛ wowɔ Alport syndrome na worehyia aso anaa aniwa mu haw a, kɔ oduruyɛfo nkyɛn ntɛm ara.

Dɛn na ɛde Alport yare no ba?

Sɛ yɛbɛka no tiawa a, nsakrae a ɛba wo collagen awosu mu nkwaadɔm mu na ɛde eyi ba.

So eyi yɛ ɔyare mmoawa?

Dabi, Alport yare no nyɛ yare a ɛde ɔyare mmoawa ba. Ɛnyɛ nea efi onipa biako hɔ kɔ foforo mu denam nkitahodi a emu yɛ den so. Ɛyɛ tebea a wonya fi awo mu.

Wobɛyɛ dɛn ahu eyi?

Sɛ wowɔ mogya a ɛyɛ mmerɛw a wotumi hu anaa asaabo mu yare a enni sabea a, ebia oduruyɛfo bi besusuw sɛ Alport yare no. Sɛ obi wɔ w’abusua mu wɔ Alport syndrome a, nhwehwɛmu betumi ahu. Sɛ obiara nni w’abusua mu a ɔwɔ bi a, oduruyɛfo betumi agyina w’ayaresa ho abakɔsɛm ne nhwehwɛmu afoforo a woayɛ so ahu wo.

Oduruyɛfo no bɛhwehwɛ wo yare no ho sɛnkyerɛnne mu na wabisa w’abusua aduruyɛ ho abakɔsɛm. Nhwehwɛmu ahorow nso betumi aboa ma wɔahu eyi. Saa sɔhwɛ ahorow yi bi ne:

• Nsu mu nhwehwɛmu: Eyi hwehwɛ sɛnea wo nsu no te, sɛnea ɛyɛ adwuma, ne sɛnea wotumi hu nneɛma nketenkete no hwɛ. Etumi hu sɛ mogya anaa protein wɔ nsu no mu anaa.
• Creatinine clearance test anaa cystatin C mogya mu nhwehwɛmu: Saa nhwehwɛmu yi kyerɛ sɛnea creatinine ne cystatin C, ade a wɔsɛe no, dodow a ɛwɔ wo mogya mu no te. Eyi betumi akyerɛ sɛnea w’asaabo reyɛ wo mogya no yiye.
• Estimated glomerular filtration rate (eGFR): Eyi yɛ bo a oduruyɛfo bu ho akontaa fi creatinine anaa cystatin C. Ɛkyerɛ sɛnea w’asaabo retew wo mogya ho yiye.
• Asaabo mu nhwehwɛmu: Oduruyɛfo bi fa w’asaabo mu ntini nketenkete paa kakraa bi na ɔde afiri a wɔde hwɛ nneɛma nketenkete hwehwɛ mu wɔ afiri a wɔde yɛ nhwehwɛmu mu. Saa nhwɛsode ahorow yi kyerɛ akwan horow a ɛreka w’asaabo. Wɔ Alport syndrome mu no, ɛte sɛ nea GBM ahorow a asɛe no yɛ teateaa, nanso ebia mmeae bi nso wɔ hɔ a ɛyɛ den. Sɛ yare no mu yɛ den a, ebetumi akyerɛ sɛ akuru wɔ filtering units ne supporting structures no so.
• Awosu mu nhwehwɛmu: Eyi betumi ahu nsakrae a aba wo collagen awosu mu nkwaadɔm mu. Eyi bɛhwehwɛ sɛ wɔkɔ ayaresabea titiriw bi a wɔhwɛ awosu mu nneɛma so. Oduruyɛfo de mogya mu nhwehwɛmu anaa nnompe bɛyɛ eyi.
• Aso mu nhwehwɛmu (audiogram): Sɛ oduruyɛfo bi susuw sɛ Alport syndrome a, wobetumi ahyɛ sɛ wɔnyɛ aso mu nhwehwɛmu. Ɛsɛ sɛ obiara a ɔwɔ Alport syndrome yɛ nhwehwɛmu yi. Ɛsɛ sɛ wɔyɛ sɔhwɛ yi mfe kakraa biara de hwɛ sɛ ebia aso a ɛyɛ mmerɛw no so retew anaasɛ ɛreyɛ kɛse anaa.
• Aniwa mu nhwehwɛmu: Ɛsɛ sɛ aniwa ho ɔbenfo a ne ho akokwaw wɔ aniwa mu nyarewa a wohu na ɔsa mu na ɔyɛ nhwehwɛmu yi. Wɔbɛhwehwɛ w’aniwa mu na wɔahwɛ w’ani (cornea), w’aniwa ahwehwɛ, ne w’ani akyi (retina) ahwɛ sɛ ebia Alport syndrome aka w’ani so anaa. Ebia wɔbɛyɛ mfoninitwa sɔhwɛ bi a wɔfrɛ no optical coherence tomography (OCT) nso.

So wobetumi asa Alport yare no? Dɛn ne ayaresa ahorow no?

Aduru biara nni hɔ a wɔde sa Alport yare no. Nhwehwɛmufo reyɛ awosu mu ayaresa a ɛsiesie awosu mu nkwaadɔm a asɛe no ho adwuma, nanso ennya nyɛɛ yiye. Sɛ wɔyɛ awosu mu ayaresa a edi mu mpo a, ebegye mfe pii ansa na yɛanya bi. Nanso, ayaresa ahorow bi wɔ hɔ a ebetumi ama asaabo no dwumadi so atew na ama asaabo a entumi nyɛ adwuma yiye no akyɛ.

Oduruyɛfo bi betumi akyerɛw nneɛma te sɛ:

• Angiotensin-converting enzyme (ACE) inhibitors: Eyinom ma wo mogya so tew, ɛtew protein a ɛwɔ wo nsu mu, na ɛboa ma wobɔ w’asaabo ho ban. Ɛsɛ sɛ mmarima a wɔwɔ (XLAS) ne obiara a ɔwɔ (ARAS) fi ase nom nnuru a esiw ACE ano bere a wɔahu sɛ ɔwɔ bi awie no. Ɛsɛ sɛ mmea a wɔwɔ (XLAS) anaa (ADAS) fi ase nom nnuru a esiw ACE ano bere a wofi ase hu protein wɔ wɔn nsu mu ara pɛ, anaa bere a wɔahu sɛ wɔwɔ bi no.
• Angiotensin II receptor blockers (ARBs): ARBs te sɛ ACE inhibitors na ɛwɔ mfaso koro no ara.
• Sodium-glucose transported type 2 (SGLT-2) inhibitors: Sɛ wowɔ CKD anaa Alport syndrome a, SGLT-2 inhibitors betumi aboa ma asiane a ɛwɔ hɔ sɛ asaabo bedi huammɔ no so atew. Ebia wo duruyɛfo de eyinom bɛka wo ACE inhibitor anaa ARB ho. Ɛnyɛ nnuru a esiw SGLT-2 ano nyinaa na wɔapene so sɛ wɔmfa nsa CKD. Ebia wo duruyɛfo remma wo eyinom sɛ wo eGFR sua koraa a.
• Aduan a sodium ahyɛ mu ma: Sɛ woto nkyene ne sodium dodow a ɛwɔ w’aduan mu ano hye a, ebetumi aboa ma mogya mmoroso so atew na ama asaabo ne koma akwahosan akɔ so atra hɔ.

So asaabo a wɔde ma obi betumi asa Alport yare no?

Yiw ne dabi. Sɛ wɔde asaabo si ananmu a, wunya asaabo a ``Type IV collagen'' a ɛfata ne filtration membranes wom. Enti, Alport syndrome rensan mma bio wɔ asaabo foforo no mu.

Nanso, asaabo a wɔde bɛma obi foforo no remmoa wɔ sɛnkyerɛnne afoforo te sɛ aso a ɛyɛ mmerɛw ne aniwa mu haw ho.

Yɛbɛyɛ dɛn atumi asiw eyi ano?

Wontumi nsiw Alport syndrome ano. Nanso, sɛ wuhu w’abusua abakɔsɛm a, ebetumi aboa wo ma woahu ntɛm. Ebetumi nso aboa wo ma wo mma no amfa ankɔ.

Sɛ wohu Alport yare no ntɛm na wofi ase de ACE inhibitors/ARBs ne SGLT-2 inhibitors sa yare no ne ɔkwan a eye sen biara a wɔbɛfa so akyɛ asaabo a entumi nyɛ adwuma yiye.

Sɛ oduruyɛfo ka sɛ mogya wɔ wo nsu mu a, ɛbɛyɛ papa sɛ wobɛyɛ nhwehwɛmu foforo a ɛkyerɛ sɛ wowɔ Alport syndrome, titiriw sɛ w’aso yɛ den anaasɛ w’asaabo dwumadi so atew a.

Sɛ obi a ɔwɔ w’abusua mu wɔ abakɔsɛm a ɛkyerɛ sɛ mogya wɔ wo nsu mu (hematuria) a, ɛsɛ sɛ oduruyɛfo hwɛ wo nsu mu hwɛ sɛ mogya bi wɔ hɔ anaa na ɔyɛ mogya mu nhwehwɛmu de hwɛ sɛnea w’asaabo yɛ adwuma.

Sɛ mewɔ Alport syndrome a, me nkwa nna bɛyɛ dɛn?

Mmarima a wɔwɔ `(XLAS)` ne obiara a ɔwɔ `(ARAS)` taa nya asaabo a entumi nyɛ adwuma yiye na wɔn aso yɛ den ansa na wɔadi mfe 30.

Mmea a wɔwɔ XLAS taa nya nkwa nna a ɛfata. Ebia wowɔ mogya a ɛyɛ mmerɛw a wotumi hu, proteinuria, CKD, anaa asaabo a entumi nyɛ adwuma yiye ne aso a ɛyɛ mmerɛw. Ɛsono sɛnea obiara bua. Nanso mmea 16% benya asaabo a entumi nyɛ adwuma yiye bere a wɔadi mfe 60, na 20% nso benya bere a wɔadi mfe 80.

Nnipa a wɔwɔ `(ADAS)` betumi anya mmuae ahorow, na wobetumi anya nkwa nna a ɛfata. Aso a ɛyɛ mmerɛw ne asaabo a entumi nyɛ adwuma yiye no ntaa mma wɔ `(ADAS)` mu.

Mpɛn pii no, asaabo mu yare a enni sabea (CKD) ne asaabo a entumi nyɛ adwuma yiye no ma nnipa a wɔwɔ Alport yare no nkwa nna yɛ tiaa. CKD ma asiane a ɛwɔ hɔ sɛ komayare ne akisikuru betumi awu no yɛ kɛse. Asaabo a entumi nyɛ adwuma yiye no di awu a wɔmfa dialysis anaa asaabo foforo mma. Sɛ wɔde sa yare mpo a, asaabo a entumi nyɛ adwuma yiye no ma asiane a ɛwɔ hɔ sɛ komayare, akisikuru, ne ɔyare mmoawa betumi awu no yɛ kɛse. Ɛdenam sɛnea asaabo a wɔde ama obi foforo no yɛ adwuma yiye so no, asaabo a wɔde si ananmu betumi aboa wo ma woatra ase sɛnea ɛsɛ.

Mɛyɛ dɛn ahwɛ me ho?

Sɛ wowɔ Alport syndrome a, oduruyɛfo bɛboa wo ma woayɛ ayaresa nhyehyɛe a eye sen biara. Ebia nea ɛka eyi ho ne nnuru ne asetra mu nsakrae.

Aduruyɛ mu ayaresa

• Fa nnuru a esiw ACE ano, ARBs, anaa SGLT-2 inhibitors sɛnea wo duruyɛfo akyerɛ wo no.
• Kwati sɛ wobɛnom nnuru a wɔde kum ɛyaw (nnuru a ɛnyɛ steroid a ɛko tia ɔyare mmoawa - NSAIDs). Eyinom betumi ama asaabo no ayɛ adwuma ntɛmntɛm sɛ wowɔ asaabo no dwumadi a ɛnteɛ anaasɛ Alport syndrome a.
• Hwɛ sɛnea wote asɛm.Sɛ w’aso yɛ den kɛse na wo duruyɛfo kamfo mfiri a wɔde boa aso kyerɛ a, ɛyɛ papa sɛ wode bedi dwuma. Anyɛ saa a, ebia ɛbɛyɛ den ama wo sɛ wo ne afoforo bedi nkitaho, na ama woate nka sɛ woayɛ ankonam na woatew wo ho. Saa nkate ahorow a ɛma obi tew ne ho yi betumi ama obi anya adwenemhaw. Mmoa a wɔde tie asɛm betumi ama wo ne wɔn a wɔatwa wo ho ahyia no ntam abusuabɔ atu mpɔn, ama wo nkate atu mpɔn, na aboa wo ma woadi adwenemhaw ho dwuma anaasɛ asiw ano.
• Hwɛ w’adwene mu akwahosan so. Sɛ wunya awosu mu tebea bi a, ebetumi ayɛ ankonam, na sɛ wuhu sɛ Alport yare no betumi ama w’asaabo ayɛ adwuma yiye anaasɛ wobɛte asɛm a, ebetumi ama asiane a ɛwɔ hɔ sɛ wubenya adwenemhaw no ayɛ kɛse. Ɛho hia sɛ wo ne wo duruyɛfo kasa fa adwenemyare biara a worehyia ho na woanya ayaresa a wuhia. Bisa wo duruyɛfo sɛ ebia akuw bi wɔ hɔ a wɔboa nnipa a wɔwɔ Alport syndrome anaa. Nnipa a wɔte saa a wubehyia wɔn no betumi aboa wo ma woate nka sɛ wo nkutoo na wowɔ hɔ.

Asetra kwan mu nsakrae

• Tew nkyene dodow a ɛwɔ w’aduan mu no so.
• Sɛ wowɔ CKD a, ebia ebehia sɛ wudi aduan titiriw bi akyi. Ebia nea ɛka eyi ho ne sɛ wobɛtew mmoa mu protein a wudi so, wobɛdan akɔ aduan a efi afifide mu so, wobɛkwati nnuan a potassium pii wom sɛ potassium dɔɔso wɔ wo mogya mu a, na sɛ wowɔ mogya mu phosphorus anaa parathyroid hormone (PTH) pii a, wobɛtew protein a wudi so.
• Sɛ wudi asetra kwan a ahoɔden wom akyi a , ebetumi aboa ma asiane a ɛwɔ hɔ sɛ wubenya komayare, asikreyare, ne tebea afoforo a ebetumi ama w’asaabo ayɛ adwuma yiye no so atew. Apɔw-mu-teɛteɛ te sɛ nantew a ɛyɛ ntɛmntɛm, mmirikatu, asuguare, sakre a wɔde tu mmirika, ne hama a wɔde huruw ye. Ɛyɛ papa nso sɛ wobɛkɔ so akura mu duru a ɛfata a ɛfata wo mu.
• Kwati sigaretnom ne tawa nneɛma afoforo. Sɛ wuhia mmoa a wode begyae sigaretnom a, kɔ oduruyɛfo nkyɛn.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Sɛ mogya wɔ wo nsu mu, wote asɛm, anaa wunhu ade yiye a, kɔ oduruyɛfo nkyɛn. Eyinom betumi ayɛ Alport yare no ho sɛnkyerɛnne.

Sɛ wowɔ Alport syndrome a, hwɛ hu sɛ wo duruyɛfo de wo bɛkɔ asaabo ho ɔbenfo (nephrologist) nkyɛn.

Sɛ obi wɔ w’abusua mu wɔ Alport syndrome a, kɔ oduruyɛfo nkyɛn kɔhwɛ sɛ wo nso wowɔ bi anaa.

Nsɛm bɛn na ɛsɛ sɛ mibisa me duruyɛfo?

Sɛ wususuw sɛ ebia wowɔ Alport syndrome, anaasɛ obi wɔ w’abusua mu wɔ Alport syndrome a, bisa wo duruyɛfo nsɛm yi:

• So wunim sɛnea wubehu Alport yare no?
• So wubetumi de me akɔ oduruyɛfo bi a onim sɛnea wohu Alport syndrome nkyɛn?
• So mogya wɔ me nsu mu?
• So m’asaabo dwumadi so retew?
• So ɛsɛ sɛ meyɛ aso mu nhwehwɛmu anaa aniwa mu nhwehwɛmu?
• So ɛsɛ sɛ wɔyɛ me asaabo mu nhwehwɛmu?
• So ɛsɛ sɛ meyɛ awosu mu nhwehwɛmu?

Sɛ wowɔ Alport syndrome a, bisa wo duruyɛfo nsɛm yi:

• Wobɛyɛ dɛn ahu sɛ mewɔ Alport syndrome?
• Bere bɛn na wobetumi de me akɔma asaabo ho ɔbenfo (nephrologist) a onim Alport syndrome ho asɛm?
• Alport syndrome bɛn na mewɔ?
• So mede Alport yare no bɛma me mma?
• Dɛn ne me `(GFR)`?
• Protein dodow ahe na ɛwɔ me nsu mu?
• Bere bɛn na wufi ase de ACE inhibitor anaa ARB di dwuma?
• So menya mfaso afi SGLT-2 inhibitor bi mu?
• Nnuru afoforo bɛn na wokamfo kyerɛ?
• Mpɛn ahe na ɛsɛ sɛ meyɛ nhyehyɛe kɔhwɛ m’asaabo akwahosan?
• Mpɛn ahe na ɛsɛ sɛ meyɛ aso mu nhwehwɛmu?
• So ɛsɛ sɛ minya aniwa ho oduruyɛfo ma ɔhwɛ m’ani?
• So wubetumi akamfo akuw a wɔboa nnipa a wɔwɔ Alport syndrome akyerɛ?

Alport syndrome yɛ tebea a ɛsɛe mogya ntini a ɛwɔ w’asaabo mu. Nsakrae a ɛba w’awosu mu no ka sɛnea w’asaabo yɛ adwuma, na ebetumi aka w’aso ne w’ani nso.

Ebia wubenya nkate ahorow bere a wubehu saa yare yi ne ɔkwan a Alport yare no fa so ka w’asetra no. Ɛho hia sɛ woma wo ho bere ne baabi a wode bɛte wo tebea no ne ayaresa a wubetumi apaw ase. Sɛ wuhu nneɛma a wubetumi apaw ne nea wobɛhwɛ kwan a, ebetumi aboa wo ma woadi wo nkate so. Wo na wusi gyinae a etwa to wɔ w’akwahosan ho, na wo duruyɛfo no wɔ hɔ sɛ ɔde nsɛm ne akwankyerɛ bɛma wo. Sɛ wowɔ nsɛmmisa bi, wuhia mmoa, anaa wuhia afotu a, wo ne wɔn nkasa.

Nkrasɛm a ɛho hia sen biara a ɛsɛ sɛ wode kɔ fie

Ɛwom sɛ Alport yare no yɛ awosu mu tebea a emu yɛ den, a ɛkɔ so wɔ nkwa nna nyinaa mu de, nanso sɛ wohu no ntɛm na wodi ho dwuma yiye a, ebetumi aboa nkurɔfo ma wɔatra ase sɛnea ɛte biara.

Sɛ obi wɔ w’abusua mu wɔ saa sɛnkyerɛnne ahorow yi (titiriw mogya a ɛwɔ nsu mu, aso a ɛyɛ den), anaasɛ w’ankasa wuhu bi a, ɛnka akyi dodo da sɛ wobɛhwehwɛ aduruyɛ mu afotu. Sɛ woyɛ nhwehwɛmu ne ayaresa a ɛfata a, wubetumi atew asaabo a ɛsɛe no so na woakura w’asetra mu yiye. Kae sɛ ɛnyɛ wo nkutoo na wowɔ hɔ, na nnuruyɛfo ne w’adɔfo wɔ hɔ sɛ wɔbɛboa wo.

` Alport syndrome, asaabo mu yare, awosu mu nyarewa, collagen, mogya a ɛwɔ nsu mu, aso a ɛyɛ den, aniwa mu nyarewa