So worehyia ɔhaw wɔ w’asaabo ho? Momma yɛnka Fanconi Syndrome ho asɛm!

So wote nka sɛ sukɔm de wo bere nyinaa a wuntumi nsusuw ho? Anaasɛ sɛ ɛyɛ abofra ketewaa bi a, so woahyɛ ɛyaw wɔ wɔn nipadua mu ne wɔn nnompe a ɛyɛ mmerɛw no nsow? Ɛtɔ da bi a, saa nsɛnkyerɛnne yi akyi no, ebia yare bi wɔ hɔ a yɛntee ho asɛm pii, nanso ɛho hia paa sɛ yehu ho asɛm. Tebea a ɛte saa no biako ne Fanconi Syndrome. Ɛnnɛ, yɛbɛka eyi ho asɛm tiawa, wɔ ɔkwan a wubetumi ate ase so.

Dɛn ne Fanconi Syndrome?

Sɛ yɛbɛka no tiawa a, Fanconi yare no yɛ tebea a ɛba bere a akwan a ɛyɛ mmerɛw yiye a ɛwɔ yɛn asaabo mu, titiriw ntini a ɛbɛn yɛn no, ntumi nyɛ adwuma yiye no. Afei susuw ho saa kwan yi so: yɛn asaabo te sɛ super filter system a ɛwɔ yɛn nipadua mu. Wɔyiyi mogya no mu na woyi nneɛma fĩ fi hɔ sɛ nsu. Wɔsan twetwe aduannuru a ɛho hia te sɛ electrolytes ne glucose nso.

Nanso, wɔ obi a ɔwɔ Fanconi yare no asaabo mu no, nea wɔfrɛ no proximal tubules yi ntumi nyɛ adwuma yiye. Nea ɛba ne sɛ nneɛma a ɛho hia ma nipadua no nsan nkɔ nipadua no mu na ɛkɔ nsu mu. Ɔkwan foforo so no, wɔsɛe nneɛma a ɛsom bo.

Wɔ nneɛma a ɛho hia a woyi fi nipadua no mu wɔ saa kwan yi so no mu no, nea edidi so yi titiriw na ɛwɔ hɔ:

• Phosphorus a ɛwɔ nipadua no mu
• Glucose a ɛwɔ nipadua no mu
• Potassium a wɔde yɛ nneɛma
• Bicarbonate a wɔde yɛ nneɛma
• Uric acid a wɔde yɛ aduru
• Amino acid ahorow a ɛwɔ nipadua no mu

Ɛkame ayɛ sɛ nneɛma yi ho hia ma biribiara a ɛkɔ so wɔ yɛn nipadua mu. Enti, sɛ eyinom sa a, ɔhaw ahorow fi ase sɔre.

Henanom na wobetumi anya Fanconi yare no?

Eyi yɛ yare a ebetumi aka obiara ankasa. Akwan titiriw abien na ebetumi aba.

1. Fanconi Syndrome a wonya fi awo mu: Eyi yɛ awosu mu tebea, a ɛkyerɛ sɛ wonya fi ɛna anaa agya no hɔ.

2. Acquired Fanconi Syndrome: Saa tebea yi betumi aba wɔ asetra mu bere bi, esiane nneɛma afoforo nti.

Dɛn ne Fanconi yare no ho sɛnkyerɛnne?

Nsɛnkyerɛnne no nso betumi ayɛ soronko kakra a egyina sɛ ebia efi awo mu anaasɛ wonya so.

Fanconi yare a wɔde awo obi ho sɛnkyerɛnne:

• Nsu a wɔtaa to: Nsu pii a wɔde fa mu sen sɛnea ɔtaa yɛ.
• Nsu a ɛtɔ: Nsu a enni nipadua no mu.
• Sukɔm a ɛkɔ so daa (Polydipsia): Sɛ wote nka sɛ wunnya nsu a ɛdɔɔso ɛmfa ho sɛnea wobɛnom no.
• Nnompe mu yaw: Ebia wobɛte ɛyaw wɔ wo nipadua mu, titiriw wɔ wo nnompe mu.
• Ntini mu mmerɛwyɛ.
• Nnompe a ayɛ mmerɛw: Nnompe betumi abubu na abubu ntɛmntɛm.
• Nnompe a ɛpaapae: Sɛ obi hwe ase kakra mpo a, ebetumi ama dompe bi abubu.
• Ketekete: Ebia woyɛ tiaa asen afoforo a wɔn mfe yɛ pɛ.

Fanconi yare no ho sɛnkyerɛnne ahorow a ɛba akyiri yi:

• Ntini mu mmerɛwyɛ.
• Phosphate dodow a ɛba fam wɔ mogya mu (Hypophosphatemia): Eyi betumi de nnompe mu haw aba.
• Potassium dodow a ɛba fam wɔ mogya mu (Hypokalemia): Eyi nso betumi aka koma no bɔ.
• Hyperaminoaciduria yɛ amino acid a ɛboro so a ɛwɔ nsu mu.
• Acid a ɛkɔ soro wɔ nipadua no mu (Metabolic acidosis): Eyi betumi ama obi abrɛ na ayɛ den sɛ ɔbɛhome.
• Nsu a wɔtaa tow.
• Nsu a ɛho ntew.
• Sukɔm a ɛkɔ so daa.

Seesei wubetumi ahu sɛ saa sɛnkyerɛnne ahorow yi bi te sɛ nea ɛte saa ara, enti ɛbɛyɛ papa sɛ wobɛhwehwɛ aduruyɛfo afotu na woahu nea ɛrekɔ so ankasa.

Dɛn na ɛde Fanconi yare no ba?

Ntease pii betumi aba. Momma yɛnkyekyɛ mu abien.

Nneɛma a ɛde Fanconi yare a wɔde awo obi ba:

Mpɛn pii no, eyinom yɛ awosu mu tebea horow.

• Cystinosis: Eyi fi amino acid cystine a ɛboaboa ano wɔ nipadua no mu. Ebetumi aka nipadua no afã horow pii, a asaabo, aniwa, ntini, koma, ne amemene ka ho. Ɛno titiriw na ɛde Fanconi yare a wɔde awo obi no ba.
• Lowe syndrome: Eyi nso yɛ awosu mu tebea a ɛntaa nsi a ɛne X chromosome wɔ abusuabɔ. Ɛka aniwa, asaabo, ne amemene. Mpɛn pii no, wotumi hu yare no ho sɛnkyerɛnne bere a wɔawo no.
• Wilson yare: Wɔ tebea yi mu no, nipadua no ntumi nyi kɔbere mfi hɔ yiye. Sɛ kɔbere boaboa ano a, ebetumi asɛe mmerɛbo, amemene, asaabo, ne aniwa.
• Fructose a wontumi nnye ntom a wonya fi awo mu: Eyi fi enzyme Aldolase B a ɛma asikre a ɛwɔ mogya mu no so tew (hypoglycemia) bere a wodi nnuaba mu asikre (fructose) ne sucrose a ebetumi aka mmerɛbo no a enni hɔ.
• Dent disease: Eyi nso yɛ asaabo mu yare a ɛntaa nsi. Ebetumi ama protein akɔ nsu mu, calcium akɔ soro wɔ nsu mu, calcium akɔ soro wɔ asaabo mu ntini mu (Nephrocalcinosis), asaabo mu abo, na awiei koraa no asaabo no ayɛ adwuma yiye (Asaabo mu yare a enni sabea). Ɛba mmarima so kɛse.
• Glycogenosis: Eyi yɛ awosu mu tebea a efi protein bi a wɔfrɛ no GLUT2 a ɛde glucose kɔ no mu sintɔ bi na ɛde ba. Wɔsan frɛ no Fanconi Bickel yare.
• Awosu mu tyrosinemia type I: Eyi yɛ sintɔ a ɛwɔ amino acid tyrosine a ebetumi aka mmerɛbo, ntini, ne asaabo no mu, na ɛde Fanconi yare no aba.

Nneɛma a ɛde Fanconi yare a efi ase akyiri yi ba:

• Nnuru bi:Saa tebea yi betumi aba sɛ nnuru bi te sɛ nnuru a ekum ɔyare mmoawa, HIV/AIDS nnuru, ne nnuru a wɔde sa yare a ebetumi asɛe asaabo no mu nsunsuanso bɔne.
• Asaabo a wɔde si ananmu: Eyi betumi aba esiane nnuru a wɔde di dwuma wɔ asaabo a wɔde ma akyi, asaabo a ɛsɛe bere a wɔreyɛ oprehyɛn no, anaasɛ asaabo a wɔde asi ananmu no a wɔpow nti.
• Multiple myeloma: Eyi yɛ kokoram a ɛba mogya mu nkwammoaa a ɛwɔ mogya mu no mu. Protein bi a ɛnteɛ a nkwammoaa yi yɛ no betumi aka asaabo no, na ɛde Fanconi yare no aba.
• AL amyloidosis (primary amyloidosis): Wɔ eyi mu no, protein bi a ɛwɔ plasma nkwammoaa mu no bɛyɛ nea ɛnteɛ na ɛka akwaa ahorow bi, a asaabo ka ho.
• Light chain proximal tubulopathy (LCPT): Wɔ tebea yi mu no, protein ahorow a ɛnyɛ ne kwan so nso gu asaabo no mu.
• Kɔbere awuduru: Kɔbere a wɔde di dwuma boro so nso yɛ ade a ɛde ba. Ebia kɔbere wɔ paint dedaw, batere bi, ne nnuru a wɔde di dwuma wɔ amanne kwan so no bi nso, enti hwɛ yiye.
• Toluene a wɔde hyɛ obi mu: Toluene yɛ nnuru a ɛwɔ anom, paint, ne nsu a wɔde tew dade ho mu. Eyinom a wɔhome (sɛ nhwɛso no, anom a ɛte hua) betumi ama Fanconi yare aba.
• Nnuru bi a wɔde nhabannuru yɛ: Wɔahu sɛ nhabannuru bi a aristolochic acid wom nso ne eyi wɔ abusuabɔ. Enti, ɛnyɛ papa sɛ wode nneɛma a ɛtete saa bedi dwuma a wonnya aduruyɛ mu afotu.

Nnuru pɔtee bɛn na ɛde Fanconi yare no ba?

Mpɛn pii no, wɔahu sɛ nnuru ahorow yi na ɛda adi sɛ ɛde Fanconi yare no ba:

• Cisplatin `(Cisplatin)`
• Ifosfamide a wɔde di dwuma
• Tenofovir `(Tenofovir)`
• Valproic acid `(Valproic acid)`
• Aminoglycoside nnuru a ekum ɔyare mmoawa, te sɛ Gentamicin
• Deferasirox `(Deferasirox)`

Ɛnyɛ obiara a ɔde saa aduru yi bedi dwuma no na obenya eyi, nanso asiane wɔ mu. Enti sɛ oduruyɛfo bi kyerɛw saa aduru yi a, wɔbɛhwɛ wo so.

So Fanconi yare no yɛ nea wɔde yare mmoawa ba?

Dabi, eyi nyɛ yare a ɛde ɔyare mmoawa ba. Ɛnnam nkitahodi a emu yɛ den so trɛw mfi onipa biako so kɔ foforo so.

Ɔkwan bɛn so na wohu Fanconi yare no?

Oduruyɛfo no bebisa wo wo yare no ho sɛnkyerɛnne ne nnuru a worenom no ho asɛm. Afei wɔbɛyɛ nipadua mu nhwehwɛmu. Ebia wɔbɛyɛ nhwehwɛmu ahorow bi nso de akyerɛ sɛ wɔahu yare no. Wobetumi nso de wo akɔ oduruyɛfo a ne ho akokwaw wɔ asaabo mu nyarewa (Nephrologist) nkyɛn.

Sɔhwɛ ahorow bɛn na wɔreyɛ ama eyi?

Wɔyɛ nsu ne mogya mu nhwehwɛmu titiriw.

• Nsuo mu nhwehwɛmu / Nsuo mu nhwehwɛmu:Wɔbɛfa wo nsuo bi na wɔahwɛ sɛ nneɛma te sɛ glucose, amino acid, ne phosphate dɔɔso anaa. Sɛ eyinom dɔɔso a, ɛyɛ Fanconi yare no ho sɛnkyerɛnne.
• Mogya mu nhwehwɛmu: Mogya mu nhwehwɛmu nso hwɛ sɛ phosphate, bicarbonate, ne potassium sua anaa. Eyinom dodow a ɛba fam nso yɛ yare yi ho sɛnkyerɛnne.

Oduruyɛfo no gyina nsɛm a wonya fi nhwehwɛmu ahorow yi mu so na ehu yare no.

So wobetumi asa Fanconi yare no?

Eyi gyina nea ɛde yare no ba so.

• Mpɛn pii no, ɛyɛ den sɛ wɔbɛsa awosu mu tebea horow a ɛde Fanconi yare no ba no koraa. Nanso, nsakrae a wɔyɛ wɔ aduan mu ne ayaresa betumi aboa ma wɔadi yare no ho sɛnkyerɛnne ahorow so na ama asetra atu mpɔn.
• Sɛ wohu nea ɛde Fanconi yare no ba na wɔsa a, ɛtɔ mmere bi a asaabo no betumi ayɛ yiye. Nanso, ɛnyɛ bere nyinaa na wɔhyɛ eyi ho bɔ. Nanso, wobetumi adi sɛnkyerɛnne ahorow no ho dwuma na asaabo, ntini, ne nnompe a wɔsɛe no no ano brɛ ase.

Ɔkwan bɛn so na wɔsa Fanconi yare no?

Ɔkwan a wɔfa so sa yare nso gu ahorow gyina nea ɛde yare no ba ne sɛnea emu yɛ den so.

1. Nea ɛde ba no a wɔbɛsa: Oduruyɛfo no bedi kan asa tebea a ɛde Fanconi yare no bae no. Sɛ nhwɛso no, sɛ aduru bi na ɛde ba a, wobetumi agyae aduru no anaasɛ wɔbɛtew dodow a wɔde ma no so.

2. Nneɛma a wɔde hyɛ nipadua no mu ma: Nnuannuru a ɛho hia (electrolytes, nsu) a ɛnam nsu mu yera no san hyɛ nipadua no ma. Wobetumi ayɛ eyi denam nsakrae a wɔbɛyɛ wɔ aduan mu, nnuru a wɔde ka aduan ho, anaasɛ wɔde fa ntini mu (IV) so.

3. Nipadua no mu acid a wɔhyɛ so (Metabolic acidosis): Esiane sɛ nnipa pii nya saa tebea yi nti, wobetumi de nneɛma te sɛ sodium bicarbonate ama na ama mogya no pH bo asan aba (pH nsenia).

4. Wɔn a phosphate dodow sua no fam no: Esiane sɛ phosphate a ɛba fam no ma nnompe yɛ mmerɛw nti, wobetumi ama wɔn phosphate ne vitamin D.

5. Aduan titiriw a wɔde ma wɔ tebea horow a wɔde wo awo mu: Sɛ wɔwo abofra bi a ɔwɔ Fanconi yare a, ebia obehia aduan titiriw a wɔayɛ. Sɛ nhwɛso no, ebia ebehia sɛ wɔto nnuan a fructose, galactose, anaa tyrosine wom ano hye. Eyi gyina awosu mu tebea a ɛwɔ ase no so.

Nea ɛho hia paa ne sɛ wubedi oduruyɛfo no akwankyerɛ akyi. Sɛ wobɔ mmɔden sɛ w’ankasa wobɛyɛ nneɛma a, tebea no betumi asɛe kɛse.

Me ho bɛtɔ me ntɛm dɛn bere a wɔasa me yare awie no?

Eyi nso betumi ayɛ soronko kɛse a egyina nea ɛde ba no so. Fanconi yare no bi a ɛba akyiri yi no betumi agyae wɔ nna anaa adapɛn kakraa bi mu. Nanso, tebea horow bi a wonya fi awo mu ne nea efi ase akyiri yi betumi atra hɔ akyɛ. Enti, ɛho hia sɛ yɛtɔ yɛn bo ase na yɛfa ayaresa.

So wobetumi asiw Fanconi yare no ano?

Biribiara nni hɔ a yebetumi ayɛ de asiw awosu mu tebea horow a ɛwɔ hɔ wɔ awo mu no ano. Nanso, nneɛma bi wɔ hɔ a yebetumi ayɛ de abɔ yɛn ho ban na yɛannya Fanconi syndrome akyiri yi :

• Kwati sɛ wode wo ho bɛhyɛ kɔbere mu. Wobetumi ahu kɔbere wɔ ofie mfonini dedaw, agode bi, ne nsu paipu a kɔbere wom mu.
• Wo ne oduruyɛfo nkasa ansa na wode nhabannuru anaa nnuru afoforo a wɔde ka aduan ho adi dwuma. Ebinom betumi apira asaabo no.
• Wo ne wo duruyɛfo nkasa mfa asiane a ɛwɔ nnuru biara (e.g. nnuru a ekum ɔyare mmoawa, nnuru a ekum kokoram) a ɔkyerɛw ma wo no mu. Sɛ aduru no ho hia a, oduruyɛfo no nso bɛhwɛ w’asaabo so.

Sɛ wowɔ Fanconi syndrome a, dɛn na wubetumi ahwɛ kwan?

Ɛnnɛ, nnuruyɛfo ne nhwehwɛmufo nim Fanconi yare no ne sɛnea wɔsa no ho nsɛm pii. Ayaresa foforo ama nnipa pii atumi atra ase sɛnea ɛsɛ.

• Congenital Fanconi syndrome: Mpɛn pii no, sɛnkyerɛnne ahorow no da adi wɔ nkokoaabere mu. Sɛ cystinosis na ɛde eyi ba a, abofra no betumi anya ɔhaw ahorow wɔ onyin ne ne mu duru a ɛkɔ soro ho. Asaabo a entumi nyɛ adwuma yiye betumi aba ntɛm. Akwaa afoforo te sɛ aniwa, mmerɛbo, ne nnompe nso betumi aka.
• Fanconi yare a efi ase akyiri yi: Sɛ wohu nea ɛde ba na wɔsa wie a, asaabo no betumi ayɛ yiye. Nanso, ɛtɔ mmere bi a asaabo no sɛe no betumi atra hɔ daa.

Bere tenten ahe na wubetumi atra ase wɔ Fanconi yare no ho?

Ɛrentumi nyɛ yiye sɛ yɛbɛka bere tenten pɔtee a eyi bɛkɔ so. Sɛ woyɛ adwuma sɛnea ayaresa ne ayaresa nhyehyɛe a ɛfata te a, wubetumi abɔ bra sɛnea ɛsɛ. Nanso, sɛ w’asaabo ntumi nyɛ adwuma yiye a, ebia wo nkwa nna so bɛtew. Wɔ tebea horow a wɔde awo obi mu no, nkwa nna gu ahorow gyina sɛnea awosu mu yare no te so.

Mɛyɛ dɛn ahwɛ me ho?

Wo duruyɛfo bɛyɛ ayaresa nhyehyɛe a ɛfata wo. Ebia nea ɛka eyi ho ne nnuru a wɔde ka aduan ho a wɔbɛnom, nsakrae a wɔbɛyɛ wɔ aduan mu, ne nsakrae a wɔbɛyɛ wɔ asetra mu. Ɛho hia sɛ wudi wo duruyɛfo akwankyerɛ akyi pɛpɛɛpɛ. Hwɛ hu sɛ wobɛkɔ akɔhwɛ wo bere ano na woanom nnuru sɛnea wɔakyerɛw ama wo no.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Sɛ wowɔ Fanconi syndrome ho sɛnkyerɛnne, anaa tebea horow a yɛaka ho asɛm no mu biara a ebetumi de aba a, kɔ oduruyɛfo nkyɛn ntɛm ara. Sɛ wohu no ntɛm a, ɛnyɛ den sɛ wɔbɛsa na ebetumi atew nsɛnnennen so.

Nsɛm bɛn na ɛsɛ sɛ wubisa oduruyɛfo no?

• Wobɛyɛ dɛn ahu sɛ mewɔ Fanconi syndrome?
• Nhwehwɛmu bɛn na wɔyɛ de hu eyi?
• So ɛyɛ biribi a wɔde woo me anaasɛ biribi a minyaa akyiri yi?
• Dɛn na ɛde me Fanconi yare no ba?
• So ɛsɛ sɛ mekɔ oduruyɛfo titiriw bi nkyɛn?
• Aduannuru foforo bɛn na ɛsɛ sɛ menom?
• Asiane bɛn na ɛwɔ hɔ sɛ m’asaabo bedi huammɔ?
• So ɛho behia sɛ wɔde asaabo foforo ma me?
• So ɛsɛ sɛ meyɛ awosu mu nhwehwɛmu?
• Mpɛn ahe na ɛsɛ sɛ meba bɛhwɛ me tebea no so?
• So akuw bi wɔ hɔ a wɔboa nnipa a wɔwɔ Fanconi yare no?

Nsonsonoe bɛn na ɛda Fanconi Syndrome ne Fanconi Anemia ntam?

Eyi yɛ biribi a nnipa pii adwene tu fra wɔ ho. Fanconi syndrome ne Fanconi mogya a ɛtɔ kɔ nipadua mu yɛ tebea abien a ɛsono emu biara koraa.

• Fanconi syndrome yɛ ɔhaw a asaabo no ntumi nsan nnye nneɛma a nipadua no hia no.
• Fanconi mogya a ɛtɔ kɔ nipadua mu yɛ yare a ɛntaa nsi, a wonya fi awo mu a ɛka nnompe mu ntini. Wɔ saa tebea yi mu no, nnompe mu ntini no ntumi mma mogya mu nkwammoaa a ɛte apɔw. Ɛma asiane a ɛwɔ hɔ sɛ obi benya mogya mu kokoram ne kokoram ahorow afoforo nso yɛ kɛse.

Enti, wubetumi ahu sɛnea ɛsono abien yi.

Nea etwa to no, nneɛma a ɛsɛ sɛ wokae (Take-Home Message) .

Fanconi Syndrome yɛ tebea a ɛntaa nsi a ɛka asaabo, nanso ɛho hia sɛ wohu. Ɛma nipadua no hwere aduannuru a ɛho hia denam nsu mu. Ebetumi aba wɔ awo mu anaasɛ enyin akyiri yi wɔ nkwa mu esiane nneɛma afoforo nti.

Ebia wobɛte ehu ne dadwen nka bere a wote yare yi ho asɛm no. Nanso, ɛdenam nnɛyi ayaresa a ɛkɔ akyiri so no, nnipa pii tumi tra ase sɛnea ɛsɛ. Sɛ wowɔ nsɛmmisa bi fa eyi ho a, wo ne oduruyɛfo nkasa. Obetumi abua wo nsɛmmisa, de wo akɔ oduruyɛfo titiriw nkyɛn sɛ ɛho hia a, anaasɛ ɔde nsɛm a ɛfa mmoa akuw ho ama. Mma wo ho nnpopo, na di aduruyɛ mu afotu a ɛfata akyi.

` Fanconi Syndrome, Asaabo mu Yare, Awosu mu Nyarewa, Electrolytes, Nsuo mu Nyarewa, Mmofra Akwahosan, Nnuru Ho Nsunsuansoɔ