Yu gɛt prɔblɛm wit yu kidni? Mek wi tɔk bɔt Fanconi Syndrome!

Yu kin fil lɛk se yu tɔsti ɔltɛm? Ɔ if na smɔl pikin, yu dɔn notis se dɛn bɔdi de pen ɛn dɛn bon dɛn wik? Sɔmtɛm, biɛn dɛn sayn ya, wan sik kin de wae wi nɔr dɔn yɛri bɔrku bɔt, bɔt i rili impɔtant fɔ no bɔt. Wan pan dɛn kayn sik ya na Fanconi Syndrome. Tide, wi go tɔk bɔt dis simpul wan, di we we yu go ɔndastand.

Wetin na Fanconi Syndrome?

Fɔ tɔk am simpul wan, Fanconi sεndrכm na wan kכndyushכn we kin apin we wan vεri dilikεt sistεm fכ chanεl dεm na wi kidni dεm, spεshal wan di proksimal tכbul dεm, nכ de wok fayn fayn wan. Naw tink bɔt am dis we: wi kidni dɛn tan lɛk wan supa filta sistɛm na wi bɔdi. Dɛn kin filta di blɔd ɛn pul di dɔti tin dɛn as urine. Dɛn kin tek bak di impɔtant tin dɛn lɛk ilɛktrɔlayt ɛn glukɔs.

כltu, insay di kidni dεm fכ pכsin we gεt Fanconi syndrome, dεn tin ya we dεn kכl proksimal tכbul dεm nכ de wok fayn. Wetin kin apin na dat di tin dɛm we impɔtant fɔ di bɔdi nɔ kin kam bak insay di bɔdi ɛn dɛn kin kɔmɔt na di urine. In ɔda wɔd dɛn, valyu tin dɛn de west.

pan di imכtant tin dεm we de kכmכt na di bכdi dis we, dεn wan ya de mεntal wan:

• Fɔsfɔr we dɛn kɔl
• Glukɔs we de na di bɔdi
• Potashɔm we gɛt di sik
• Baykabɔnɛt we dɛn kɔl
• Yurik asid
• Amino asid dɛn we de na di wɔl

Dɛn tin ya nid fɔ de fɔ ɔlmost ɛvri prɔses na wi bɔdi. So, we dɛn tin ya dɔn, prɔblɛm dɛn kin bigin fɔ kam.

Udat kin gɛt di sik we dɛn kɔl Fanconi syndrome?

Dis na sik we kin rili afɛkt ɛnibɔdi. Tu men we dɛn de we i kin apin.

1. Inherited Fanconi Syndrome: Dis na jεnεtik kכndyushכn, we min se i kin kכmכt frכm di mama כ di papa.

2. Acquired Fanconi Syndrome: Dis kכndyushכn kin apun sכm tεm na layf, fכ כda rizin dεm.

Wetin na di sayn dɛm fɔ Fanconi syndrome?

Di sayn dɛm kin difrɛn smɔl bak dipen pan if i bɔn ɔ i gɛt am.

Di simptom dɛm fɔ di Fanconi sindrom we dɛn bɔn wit:

• Yu kin pis bɔku tɛm: Yu kin pas mɔ urine pas aw yu kin pis.
• Di wata we nɔ de na di bɔdi: Wata nɔ de na di bɔdi.
• Kɔnstant tɔsti (Polydipsia): Fɔ fil lɛk se yu nɔ de gɛt inof wata ilɛksɛf yu drink bɔku.
• Bɔn pen: Yu kin gɛt pen na yu bɔdi, mɔ na yu bon dɛn.
• Di mɔsul dɛn we wik.
• Bɔn dɛn we wik: Bɔn dɛn kin brok ɛn brok izi wan.
• Bɔn we brok: Ivin we pɔsin fɔdɔm smɔl, i kin mek in bon brok.
• Smɔl ayt: Yu kin shɔt pas ɔda pipul dɛn we gɛt di sem ej.

Leta di sayn dɛm fɔ Fanconi syndrome:

• Di mɔsul dɛn we wik.
• di lכw fכsfεt lεvεl na di bכdi (Hypophosphatemia): Dis kin mek yu bon prכblεm.
• di potashכm lεvεl dεm na di bכdi (Hypokalemia): Dis kin afekt di hat rεt bak.
• hayperaminoaciduria na di prεsεns fכ εksyכs amino asid dεm na di urine.
• di asid we de bכku na di bכdi (Mεtabolic acidosis): Dis kin mek yu taya εn i kin at fכ brith.
• Fɔ pis bɔku tɛm.
• Di wata we nɔ de na di bɔdi.
• Tɔsti ɔltɛm.

Naw yu kin si se sɔm pan dɛn sik ya kin fiba, so i go fayn fɔ mek yu go to dɔktɔ fɔ no di rayt tin we de apin.

Wetin kin mek pɔsin gɛt di sik we dɛn kɔl Fanconi?

Bɔku rizin dɛn kin de. Lɛ wi sheb dɛn to tu pat.

Di tin dɛn we kin mek pɔsin gɛt di sik we dɛn bɔn wit Fanconi:

Bɔku tɛm, dɛn tin ya na tin dɛn we kin apin to pɔsin we gɛt jɛnɛtiks.

• Sistinosis: Dis kin apin we di amino asid sistin de kכmכt na di bכdi. I kin afɛkt bɔku pat na di bɔdi, lɛk di kidni, yay, mɔsul, at, ɛn bren. Na di men tin we kin mek pɔsin gɛt di sik we dɛn kɔl Fanconi syndrome.
• Lowe syndrome: Dis na wan rare jenɛtik kɔndishɔn bak we gɛt fɔ du wit di X kromozom. I kin afɛkt di yay, di kidni, ɛn di bren. Bɔrku tɛm, dɛn kin si di sayn dɛm we dɛn bɔn am.
• Wilson in sik: Insay dis kayn sik, di bɔdi nɔ kin ebul fɔ pul kɔpa fayn fayn wan. We kɔpa bɔku, i kin pwɛl di liva, di bren, di kidni, ɛn di yay.
• Inherited fructose intolerance: Dis kin bi bikɔs di ɛnzaym we dɛn kɔl Aldolase B nɔ de, we kin mek di blɔd shuga nɔ bɔku (haypoglycemia) we yu it frut shuga (fructose) ɛn sucrose, we kin afɛkt di liva.
• Dent sik: Dis na sik bak we nɔ kin apin na di kidni. I kin mek di prɔtin na di urine, di kalsiɔm we de na di urine go ɔp, di kalsiɔm we de na di kidni tubul dɛn (Nephrocalcinosis), di kidni ston, ɛn leta di kidni nɔ de wok fayn (Chronic kidney disease). I kin apin mɔ pan man dɛn.
• Glycogenosis: dis na jεnεtik kכndyushכn we de kכz fכ difεkt na wan protin we dεn kכl GLUT2, we de transpכt glukכs. Dɛn kin kɔl am bak Fanconi Bickel syndrome.
• Hereditary tyrosinemia type I: Dis na difεkt na di mεtabolism fכ di amino acid tyrosine, we kin afekt di liva, nεv dεm, εn kidni dεm, we kin mek yu gεt Fanconi syndrome.

Di tin dɛn we kin mek pɔsin gɛt di sik we dɛn kɔl Fanconi syndrome leta:

• Sɔm mɛrɛsin dɛn:Dis sik kin apin as sayd ɛfɛkt fɔ sɔm mɛrɛsin dɛn, lɛk antibayɔtik, HIV/AIDS mɛrɛsin, ɛn kemotɛrapi drɔgs, we kin pwɛl di kidni dɛn.
• Kidni transplant: Dis kin apin bikɔs ɔf di mɛrɛsin dɛn we dɛn kin yuz afta dɛn dɔn transplant di kidni, di kidni we dɔn pwɛl we dɛn de du ɔpreshɔn, ɔ we dɛn nɔ gri fɔ tek di kidni we dɛn transplant.
• Multiple myeloma: Dis na kansa we de pan di plasma sɛl dɛn we de na di blɔd. wan abnכmal protin we dεn sεl dεm ya de mek kin afekt di kidni dεm, we kin mek i gεt Fanconi syndrome.
• AL amyloidosis (primary amyloidosis): insay dis kes, wan protin we de insay di plasma sεl dεm de bi abnכmal εn i de afekt nכmba כgan dεm, inklud di kidni dεm.
• Layt chen proksimal tubulopathy (LCPT): insay dis kכndishכn, abnכmal protin dεm de dכn bak na di kidni dεm.
• Lid pɔyzin: If pɔsin gɛt lid pasmak na in bak kin mek i gɛt am. Ol pent, sɔm batri, ɛn sɔm tradishɔnal mɛrɛsin dɛn kin gɛt lid bak, so tek tɛm.
• Toluene exposure: Toluene na kemikal we de insay gam, pent, ɛn tin dɛn we dɛn kin yuz fɔ klin mɛtal. we yu inhal dεn tin ya (e.g., we yu de smεl gכm) i kin mek yu gεt Fanconi sεndrכm.
• Sɔm ɛbul mɛrɛsin dɛn: Dɛn dɔn si bak se sɔm ɛbul mɛrɛsin dɛn we gɛt aristolochic acid gɛt fɔ du wit dis. So, i nɔ fayn fɔ yuz dɛn kayn tin ya if yu nɔ gɛt dɔktɔ advays.

Us patikyula drɔgs kin mek pɔsin gɛt Fanconi syndrome?

In jɛnɛral, dɛn dɔn no se dɛn kayn drɔgs ya kin mek pɔsin gɛt Fanconi syndrome:

• Sisplatin `(Sisplatin)`
• Ifosfamid we dɛn kɔl
• Tenofovir `(Tɛnofovir)`
• Valproik asid `(Valproik asid)`
• Aminoglycoside antibayɔtiks, lɛk Jɛntamisin
• Deferasirox `(Dɛferasirox)`

Nɔto ɔlman wae de yuse dis mɛrɛsin go gɛt dis, bɔt de risk de. So if dɔktɔ gi yu dis mɛrɛsin, dɛn go de wach yu.

Yu tink se Fanconi syndrome kin pas?

Nɔ, dis nɔto sik we pɔsin kin pas. I nɔ kin skata frɔm wan pɔsin to ɔda pɔsin bay we dɛn de tɔk to dɛnsɛf.

Aw dɛn kin no se pɔsin gɛt di sik we dɛn kɔl Fanconi syndrome?

De dɔktɔ go aks yu bɔt yu sik ɛn de mɛrɛsin wae yu de tek. Dɔn dɛn go du ɛgzam fɔ dɛn bɔdi. Dɛn kin du sɔm tɛst dɛn bak fɔ no if dɛn gɛt di sik. Dɛn kin sɛn yu bak to dɔktɔ we spɛshal pan kidni sik (Nephrologist).

Us tɛst dɛn de du fɔ dis?

Na mɔ dɛn kin du urine ɛn blɔd tɛst.

• Yurin tɛst / Urinalysis: .Dɛn go tek wan urine sɛmpul frɔm yu ɛn chɛk if i gɛt bɔku tin dɛn lɛk glukɔs, amino asid, ɛn fɔsfɛt. If dɛn tin ya bɔku, na sayn fɔ Fanconi syndrome.
• Blɔd tɛst: Blɔd tɛst kin chɛk bak fɔ si if di fɔstɛm, baykabɔnɛt, ɛn potashɔm nɔ bɔku. If dɛn tin ya smɔl na sayn bak fɔ dis sik.

Di dɔktɔ kin mek di diagnosis bay di infɔmeshɔn we dɛn kin gɛt frɔm dɛn tɛst ya.

Yu tink se dɛn kin mɛn Fanconi sindrom?

Dis kin dipen pan wetin de mek yu gɛt di sik.

• Bɔrku tɛm, di jenɛtik kɔndishɔn dɛm wae kin mek yu gɛt Fanconi syndrome kin tranga fɔ wɛl ɔl. Bɔt fɔ chenj di it ɛn tritmɛnt kin ɛp fɔ kɔntrol di sayn dɛm ɛn fɔ mek yu liv bɛtɛ layf.
• If dɛn no wetin de mek pɔsin gɛt Fanconi syndrome ɛn trit am, sɔntɛnde di kidni dɛn kin wɛl. Bɔt nɔto ɔltɛm dɛn kin gi garanti fɔ dis. Bɔt dɛn kin ebul fɔ kɔntrol di sayn dɛm ɛn dɛn kin pwɛl di kidni, mɔsul, ɛn bon dɛm.

Aw dɛn kin trit Fanconi syndrome?

Di we aw dɛn kin trit am kin difrɛn bak fɔ di kɔz ɛn aw i siriɔs.

1. Fɔ trit di ɔndalayn kɔz: Di dɔktɔ go fɔs trit di ɔndalayn kɔndishɔn we mek Fanconi syndrome. Fɔ ɛgzampul, if na mɛrɛsin mek am, dɛn kin stɔp di mɛrɛsin ɔ dɛn kin ridyus di doz.

2. Riplenishment: di bכdi de fulכp wit imכtant nyutriεnt dεm (ilεktrolayt, wata) we de lכs tru urine. Dis kin bi bay we dɛn chenj di it we dɛn de it, we dɛn de it tin dɛn we dɛn de it, ɔ we dɛn put dɛn insay di bɛlɛ (IV).

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5. Spɛshal it fɔ di tin dɛn we dɛn bɔn wit: If dɛn bɔn pikin wit Fanconi syndrome, dɛn kin nid spɛshal it we dɛn mek. Fɔ ɛgzampul, dɛn kin nid fɔ stɔp fɔ it tin dɛn we gɛt fruktɔs, galaktɔs, ɔ tayrozin. Dis dipכnt pan di כndalayn jεnεtik kכndishכn.

Di tin we impɔtant pas ɔl na fɔ fala wetin di dɔktɔ tɛl yu fɔ du. If yu tray fɔ du tin fɔ yusɛf, di tin kin wɔs.

Aw kwik a go wɛl afta dɛn dɔn trit mi?

Dis kin difrɛn bak bɔku bɔku wan dipen pan di tin we kin mek i apin. Sɔm kes dɛm wae gɛt Fanconi syndrome wae kin kam leta kin dɔn insay sɔm dez ɔr wik. Bɔt sɔm tin dɛn we dɛn kin bɔn wit ɛn we kin kam leta kin te fɔ lɔng tɛm. So, i impɔtant fɔ peshɛnt ɛn tek tritmɛnt.

Yu tink se dɛn kin ebul fɔ mek dɛn nɔ gɛt di sik we dɛn kɔl Fanconi syndrome?

Natin nɔ de we wi go du fɔ mek wi nɔ gɛt di sik dɛn we de na di jɛnɛtiks we kin de we dɛn bɔn am. Bɔt sɔm tin dɛn de we wi kin du fɔ protɛkt wisɛf fɔ mek wi nɔ gɛt Fanconi syndrome leta :

• Nɔ mek yu nɔ gɛt lid. Yu kin fɛn lid na ol os pent, sɔm tɔys dɛn, ɛn wata paip dɛn we gɛt lid.
• Tɔk to dɔktɔ bifo yu yuz ɛbul ɔ ɔda supamakit. Sɔm pan dɛn kin ambɔg di kidni dɛn.
• Tɔk to yu dɔktɔ bɔt di risk dɛm fɔ ɛni mɛrɛsin (e.g. antibayɔtik, antikansa drɔgs) we i gi yu. If di mɛrɛsin nid fɔ de, di dɔktɔ go tek kia ɔf yu kidni dɛn bak.

Wetin yu kin ɛkspɛkt if yu gɛt Fanconi syndrome?

Tide, dɔktɔ ɛn risach pipul dɛn no bɔku tin bɔt Fanconi syndrome ɛn aw fɔ trit am. Nyu tritmɛnt dɛn dɔn mek bɔku pipul dɛn ebul fɔ liv nɔmal layf.

• Congenital Fanconi syndrome: Di simptom dεm kin apin we dεn bεlε. If dis na bikɔs ɔf sistinosis, di pikin kin gɛt prɔblɛm wit di we aw i de gro ɛn we i de gɛt bɔku bɔku wet. Kidni kin wok kwik kwik wan. Ɔda pat dɛn lɛk di yay, di liva, ɛn di bon dɛn kin afɛkt bak.
• Fanconi syndrome we kin bigin leta: Wae dɛn dɔn no di kɔz ɛn trit am, di kidni dɛn kin wɛl. Bɔt sɔntɛnde, di damej we di kidni dɛn kin gɛt kin de sote go.

Aw lɔŋ yu kin liv wit Fanconi syndrome?

I nɔ pɔsibul fɔ tɔk ustɛm dis go las. If yu wok akɔdin to di rayt tritmɛnt ɛn mɛrɛsin plan, yu kin liv nɔmal layf. Bɔt if di kidni dɛn nɔ wok, di layf we pɔsin kin liv kin smɔl. pan kes dεm we dεn bכn pikin, di layf we dεn kin liv kin difrεn dipכnt pan di kayn jεnεtik sik.

Aw a kin kia fɔ misɛf?

Yu dɔktɔ go mek wan tritmɛnt plan we go fayn fɔ yu. Dis kin inklud fɔ tek supamakit, chenj di it dɛn we yu de it, ɛn chenj di we aw yu de liv yu layf. I impɔtant fɔ fala yu dɔktɔ in instrɔkshɔn dɛn di rayt we. Mek shɔ se yu gɛt yu chɛk-ap dɛn di rayt tɛm ɛn tek yu mɛrɛsin dɛn lɛk aw dɛn tɛl yu fɔ tek.

Ustɛm a fɔ go to dɔktɔ?

If yu gɛt sayn dɛm fɔ Fanconi syndrome, ɔr ɛni wan pan de sik wae wi dɔn tɔk bɔt wae kin mek yu gɛt am, go to dɔktɔ wantɛm wantɛm. If yu no am kwik kwik wan, i izi fɔ trit ɛn i kin ridyus di prɔblɛm dɛn we kin apin.

Us kwɛstyɔn dɛn yu fɔ aks di dɔktɔ?

• Aw yu go no if a gɛt Fanconi sindrom?
• Us kayn tɛst dɛn kin du fɔ no dis?
• Na sɔntin we dɛn bɔn mi wit ɔ na sɔntin we a bin de divɛlɔp leta?
• Wetin na di kɔz fɔ mi Fanconi syndrome?
• A fɔ go to spɛshal pɔsin?
• Us ɔda tin dɛn we a fɔ tek?
• Wetin na mi risk fɔ mek mi kidni nɔ wok fayn?
• A go nid fɔ transplant mi kidni?
• Yu tink se a fɔ gɛt jenɛtik tɛst?
• Aw ɔltɛm a fɔ kam fɔ wach mi kɔndishɔn?
• Sɔpɔt grup dɛn de fɔ pipul dɛn we gɛt Fanconi syndrome?

Wetin na di difrɛns bitwin Fanconi Syndrome ɛn Fanconi Anemia?

Dis na sɔntin we bɔku pipul dɛn kin kɔnfyus bɔt. Fanconi syndrome ɛn Fanconi anemia na tu kɔmplit difrɛn kɔndishɔn.

• Fanconi syndrome na prɔblɛm usay di kidni dɛn nɔ kin ebul fɔ tek di tin dɛn we di bɔdi nid bak.
• Fanconi anemia na wan sik we nɔ kin apin so ɔltɛm, we pɔsin kin gɛt frɔm dɛn mama ɛn papa ɛn we kin afɛkt di bon mɛrɔ. pan dis kכndyushכn, di bon mכro nכ kin ebul fכ mek bכdi sεl dεm we gεt hεlth. I kin mek bak di risk fɔ gɛt lukimiya ɛn ɔda kayn kansa.

So, yu kin si aw dɛn tu tin ya difrɛn.

Fɔ dɔn, tin dɛn fɔ mɛmba (Take-Home Message) .

Fanconi Syndrome na wan sik wae nɔr kin bɔrku wae kin afɛkt di kidni dɛm, bɔt i impɔtant fɔ no bɔt am. I kin mek di bɔdi lɔs di impɔtant tin dɛn we i nid tru di urine. I kin de we dɛn bɔn am ɔ i kin divɛlɔp leta na layf fɔ ɔda rizin dɛn.

Yu kin fil frayd ɛn wɔri we yu yɛri bɔt dis sik. Bɔt wit di advans tritmɛnt dɛn tide, bɔku pipul dɛn kin ebul fɔ liv nɔmal layf. If yu gɛt ɛni kwɛstyɔn bɔt dis, tɔk to dɔktɔ. I kin ansa yu kwɛstyɔn dɛn, rifer yu to spɛshal pɔsin if nid de, ɔ gi yu infɔmeshɔn bɔt sɔpɔt grup dɛn. Nɔ panik, ɛn fala di kɔrɛkt advays we di dɔktɔ gi yu.

` Fanconi Sindrom, Kidni Sik, Jɛnɛtik Sik, Ilɛktrolayt, Urinary Disorder, Pikin Wɛlbɔdi, Drug Sayd Ifɛkt