Yu no bɔt Alport Syndrome? Lɛ wi tɔk bɔt am!

Yu dɔn ɛva notis se smɔl blɔd de na yu urine? Ɔ sɔntɛnde yu kin fil lɛk se yu nɔ de yɛri smɔl, ɔ yu de si difrɛn smɔl? Dis na tin dɛm wae sɔmtɛm wi nɔr kin pe atɛnshɔn to pasmak na wi ɛvride layf. Bɔt sɔmtɛm biɛn dɛn smɔl smɔl sik ya kin gɛt wan sik we nid sɔm atɛnshɔn, lɛk Alport Syndrome . So tide wi go tɔk bɔt dis insay wan simpul we we yu go ɔndastand.

Wetin na di sik we dɛn kɔl Alport Syndrome?

Fɔ tɔk am simpul wan, Alport syndrome na wan jɛnɛtik kɔndishɔn we yu kidni dɛn nɔ kin ebul fɔ mek Tayp IV kolagen protin dɛn nɔmal wan.

tink bכt, dis ``Type IV kolagen'' na tri kolagen chen dεm (alpha chen dεm) we twist togeda lεk rop. Dɛn kɔl dɛn chen ya alfa 3, alfa 4, ɛn alfa 5. Naw, if yu bɔdi nɔ mek ɛni wan pan dɛn chen ya, di ɔda tu nɔ go ebul fɔ jɔyn togɛda. Na da tɛm de di sayn dɛm wae kin kam wit Alport syndrome wae kin pasmak.

Sɔntɛnde, ɔl dɛn chen ya kin fɔm na yu bɔdi, bɔt if wan pan dɛn nɔ fɔm fayn, sɔm tɛm di chen dɛn nɔ kin ebul fɔ kam togɛda, ɔ ivin if dɛn kam togɛda, dɛn nɔ kin wok fayn. Insay dɛn kayn tin ya, di sayn dɛm kin ridyus smɔl.

dis protin we dεn kכl ``Type IV kolagen'', rili imכtant fכ di filta mεmbran dεm na yu kidni dεm, ``glomerular basement membranes כ GBM''. dis ``(GBM)'' na in de filta yu bכdi, separet tכxin dεm εn כda tin dεm we di bכdi nכ nid εn εp fכ mek urine. I de ɛp bak fɔ kip tin dɛn lɛk blɔd sɛl ɛn di prɔtin dɛn we de na di blɔd insay di blɔd instead fɔ go insay di urine.

naw, we dis `(GBM)` nכ de wok fayn, bכdi כ protin kin lik insay yu urine. As tɛm de go, di ebul we yu kidni dɛn ebul fɔ filta di urine kin go dɔŋ bak. Dis kin mek di kidni nɔ wok fayn.

Bɔt dis nɔ jɔs de afɛkt di kidni dɛn. dis ``Type IV kolagen'' de fכnshכn bak na yu yes εn yay. So, apat frɔm di kidni prɔblɛm, pɔsin we gɛt Alport syndrome kin gɛt prɔblɛm bak fɔ si ɛn yɛri.

Aw wi kin gɛt dis?

Tri men jεnεtik tכp dεm de fכ Alport sεndrכm. Lɛ wi tek wan luk pan wetin dɛn bi.

X-linked Alport sindrom (XLAS) we gɛt di sik.

Dis gɛt fɔ du wit yu X kromozom. di X kromozom na wan pan yu tu sεks kromozom dεm (X εn Y). i gεt di jin we de mek di alfa 5 chen `(COL4A5)`.

Naw, luk, man gɛt wan X kromozom ɛn wan Y kromozom. Wan uman gɛt tu X kromozom dɛn. Bikɔs na wan X kromozom nɔmɔ man dɛn gɛt we nɔ fayn, dɛn kin gɛt siriɔs sik dɛn. Bikɔs uman dɛn gɛt wan X kromozom we nɔ fayn ɛn wan X kromozom we gɛt wɛlbɔdi, bɔku tɛm di sayn dɛn we dɛn kin gɛt kin smɔl.

Wan man kin pas in Y kromozom to in bɔy pikin dɛn. So, dɛn nɔ kin ebul fɔ pas `(XLAS)` to dɛn bɔy pikin dɛn. Bɔt wan man kin pas in X kromozom to ɔl in gyal pikin dɛn. So, ɔl in gyal pikin dɛn kin gɛt wan sik we dɛn kɔl Alport syndrome.

Uman kin pas wan pan in tu X kromozom dɛn to in pikin, ilɛksɛf di pikin na bɔy pikin ɔ gyal pikin. So, i gɛt 50% chans fɔ pas `(XLAS)` to ɛni pikin.

dis `(XLAS)` na di mכst kכmכn tכp fכ Alport sεndrכm. Bitwin 60% ɛn 80% pan ɔl di Alport syndrome pasɛnt dɛn de pan dis kayn.

Ɔtosɔmal rɛsɛsiv Alpɔt sindrom (ARAS) .

"Autosomal" de tכk bכt di 23 pe dεm fכ di כtosomal jin dεm. "Autosomal recessive" de tכk bכt di patεn fכ inhεrit. If wan mama ɔ papa gɛt ɔtosomal rɛsɛsiv trayt, dɛn nɔ go sho di sayn dɛm. Fɔ mek i pas to dɛn pikin dɛn, dɛn mama ɛn papa dɛn ɔl tu fɔ gɛt di kwaliti. Bɔt bikɔs dɛn nɔ gɛt di sik, dɛn nɔ kin ivin no se dɛn gɛt am.

insay Alport sεndrכm, di jin dεm we de kכd di alfa 3 (COL4A3) εn alfa 4 (COL4A4) protin dεm de na di kromozom 2. "Rεsεsiv" min se mכtεshכn insay di tu jin dεm fכ wan jin pe nid fכ mek di sik apin.

so, insay `(ARAS)`, mכtεshכn de insay εni wan pan di jin dεm we de kכd di alfa 3 כ alfa 4 protin dεm na kromozom 2. `(ARAS)` nכ de dipεnd pan jεnda, so di inhεritεns εn di siriכs fכ di simptom dεm na di sem fכ כlman.

if yu gεt `(ARAS)`, yu pikin dεm gεt 50% chans fכ pas wan pan dεn fכlt jin dεm ya. Dis nɔ kin mek pɔsin gɛt Alport syndrome. כltu, 25% chans de fכ pas di tu fכlt jin dεm to yu pikin dεm. If dis apin, yu pikin go gɛt `(ARAS)`.

(ARAS) de mek lɛk 15% pan di wan dɛn we gɛt Alport sindrom.

Ɔtosɔmal dominant Alpɔt sindrom (ADAS) .

"Dominant" min se sik kin kכz bay we dεn mכtεshכn na wan jin nכmכ insay wan pe jin dεm. insay ADAS, mכtayshכn de insay wan pan di jin dεm we de kכd di protin COL4A3 כ COL4A4 na kromozom 2.

ADAS nɔ de dipen pan wɛda man ɔ uman, so di ɛritabiliti ɛn di kayn we aw di sik kin siriɔs na di sem fɔ ɔlman.

If yu gɛt ADAS, 50% chans de fɔ mek yu pikin dɛn pas dis jin we nɔ fayn ɛn gɛt ADAS.

(ADAS) de mek bitwin 25% ɛn 35% pan di wan dɛn we gɛt Alport sindrom.

Udat dis kin afɛkt? Aw i kɔmɔn?

Alport syndrome kin afɛkt ɛnibɔdi. Na wan sik we dɛn kin gɛt frɔm dɛn mama ɛn papa, we min se wan pan dɛn mama ɛn papa ɔ dɛn ɔl tu kin pas am to dɛn pikin. כltu, insay lεk 15% pan di kes dεm, i kin divεlכp ivin if dεn tu mama εn papa nכ gεt di mutated jin.

Dɔktɔ dɛn tink se Alport syndrome na wan sik we nɔ kin apin so ɔltɛm.Risach pipul dɛn se nɔto 200,000 pipul dɛn na Amɛrika gɛt dis sik. Ɔlsay na di wɔl, di prɛvalɛns na lɛk wan pan ɛvri 50,000 pikin dɛn we dɛn bɔn layf layf wan. Bɔt as pipul dɛn we de stɔdi bɔt dis de kɔntinyu fɔ stɔdi bɔt dis, dɛn de fɛn pipul dɛn we nɔ gɛt bɔku sayn dɛn. So Alport syndrome kin bɔrku pas aw dɛn no naw.

Aw Alport syndrome kin mek yu kidni nɔ wok fayn?

If yu gɛt Alport syndrome, di glomerular basement membranes we a bin dɔn tɔk bɔt nɔ de filta fayn. So blɔd ɛn prɔtin dɛn kin lik insay di urine. nכto dat nכmכ, bכt di sεl dεm na di tu say dεm na dεn mεmbran dεm de nכ de gεt di rayt sכpכt. Dɔn dɛn sɛl dɛn de kin vɛks ɛn inflam . dis sεl dεm we dεn kכl podosayt dεm de mek di GBM. we di sεl dεm we de rawnd de inflam, dεn podosayt dεm ya de tray fכ put mכr tayp IV kolagen insay di GBM. we dat apin, di GBM de tik εn i nכ de כganayz. dis na wetin de mek di protin de lik insay di urine (proteinuria).

as tεm de go, as mכr protin de pas insay di urine, di GBM de tik, εn ska tisu (fibrosis) kin fכm. Dis kin mek yu kidni dɛn nɔ ebul fɔ klin yu blɔd igen. Dɛn kɔl dis sik we dɛn kɔl kronik kidni sik (CKD). as mכr ska tisu de bכku, di kidni fכ wok de wכs, εn te go di kidni dεm de stכp fכ wok (kidni fεil).

Wetin na di men sayn dɛm fɔ Alport syndrome?

Di sayn dɛm kin difrɛn difrɛn wan fɔ di kayn wae yu gɛt. Di men sayn dɛm wae de sho se yu gɛt dis sik na:

• Blɔd na di urine we yu nɔ kin si (maykroskɔpik ɛmaturia).
• di prεsεns fכ protin na di urine (proteinuria).
• Kronik kidni sik (CKD) ɔr kidni we nɔ de wok fayn.
• I nɔ de yɛri fayn igen.
• Prɔblɛm dɛn we gɛt fɔ du wit di yay.

di fכs sayn fכ Alport sεndrכm na maykroskכpik hεmaturia. Dis min se yu GBM we nɔ fayn de mek di rɛd blɔd sɛl dɛn lik insay yu urine. Dis nɔ kin si wit di yay, bɔt na maykroskɔp nɔmɔ yu kin si am. Man dɛm we gɛt XLAS ɛn ɛnibɔdi we gɛt ARAS kin gɛt maykroskɔpik ɛmaturia frɔm we dɛn bɔn am. bכku uman dεm we gεt XLAS de divεlכp maykroskכpik hεmaturia ova tεm. Nɔto ɔlman we gɛt ADAS kin gɛt maykroskɔpik ɛmaturia.

Krכnik kidni sik (CKD) kin kam we di kidni fכnshכn bigin fכ dכn. Bɔrku pipul nɔr kin sho sayn dɛm fɔ CKD te dɛn kidni nɔr kin ɔpreshɔn.

Di sayn dɛn we de sho se di kidni nɔ de wok fayn:

• Swɛlin (ɛdima), mɔ rawnd di an ɔ anklɛ.
• Taya pasmak.
• Nɔs ɛn vɔmit.
• Mɔsul dɛn we de kramp.

Di we aw pɔsin kin yɛri kin apin mɔ pan man dɛn we gɛt XLAS ɛn ARAS. Bɔt i kin apin to ɛnibɔdi we gɛt Alport syndrome. Di we aw pɔsin kin yɛri kin apin smɔl smɔl. Bɔku pipul dɛn nɔ kin notis am te i tu let. I nɔ kin izi fɔ bɔku pipul dɛn fɔ yɛri ay ay sawnd, ɛn sɔm kin dɔn lɛf fɔ yɛri igen. Sɔntɛm yu go nid fɔ yuz tin dɛn fɔ ɛp yu fɔ yɛri. If yu gɛt siriɔs kes, yu kin ivin lɔs yu yɛri kpatakpata (defness).

Difrɛn prɔblɛm dɛn de bak wit di yay. Sɔm pipul dɛn kin gɛt kɔnia abrashɔn, we kin tek lɔng tɛm fɔ wɛl. Dis kin mek yu yay gɛt wata ɛn pen, bɔt bɔku tɛm i nɔ kin mek yu nɔ ebul fɔ si fayn. Sɔm pipul dɛn kin gɛt prɔblɛm wit di klia pat na dɛn yay, we na di lens, we kin ɛp fɔ mek dɛn si fayn fayn wan, ɛn leta dɛn kin gɛt katarakt.

If yu gɛt Alport syndrome ɛn yu de gɛt prɔblɛm wit yu yɛri ɔ si, go to dɔktɔ wantɛm wantɛm.

Wetin kin mek pɔsin gɛt di sik we dɛn kɔl Alport syndrome?

Fɔ tɔk am simpul wan, dis kin apin bikɔs ɔf di chenj dɛn we de apin na yu kolagen jin dɛn.

Yu tink se dis kin pas?

Nɔ, Alport syndrome nɔto sik we pɔsin kin pas. I nɔ kin pas frɔm wan pɔsin to ɔda pɔsin tru klos kɔntakt. Na wan sik we dɛn kin gɛt frɔm dɛn mama ɛn papa.

Aw yu no dis?

If yu gɛt maykroskɔpik ɛmaturia ɔ kronik kidni sik, dɔktɔ kin sɔprayz se Alport syndrome. If pɔsin na yu famili gɛt Alport syndrome, tɛst kin no am. If nɔbɔdi nɔ gɛt am na yu famili, dɔktɔ kin no if yu gɛt am bay we i de fala yu mɛrɛsin istri ɛn ɔda tɛst dɛn we yu dɔn du.

Di dɔktɔ go chɛk yu sayn dɛm ɛn aks yu bɔt yu famili mɛdikal histri. Difrɛn tɛst dɛn kin ɛp bak fɔ no dis. Dɛn tɛst ya na:

• Urinalysis: Dis de tɛst di we aw yu urine de luk, di kemistri, ɛn di maykroskɔpik prɔpati dɛm. I kin no if blɔd ɔ prɔtin de na di urine.
• Kriatinin kliarens tɛst ɔ sistatin C blɔd tɛst: Dɛn tɛst ya de mɛzhɔ di lɛvɛl dɛn we kriaytinin ɛn sistatin C, we na west prɔdak, de na yu blɔd. Dis kin sho aw yu kidni dɛn de filta yu blɔd fayn fayn wan.
• εstimat glomerular filtration rate (eGFR): Dis na valyu we dכkta kin kכl frכm kriyatinin כ cystatin C. I de εstimat aw yu kidni dεm de klin yu blכd fayn fayn wan.
• Kidni bayɔpsi: Dɔktɔ kin tek sɔm rili smɔl pat dɛn pan yu kidni tisu ɛn chɛk dɛn ɔnda maykroskɔp na lab. Dɛn sampul ya de sho di difrɛn patɛns dɛm we de afɛkt yu kidni dɛm. insay Alport sεndrכm, di GBM dεm we nכ de wok fayn de sho tכn, bכt εria dεm kin de bak we de tik. If di sik bad, i kin sho se di filta yunit dεm εn di sכpכt strכkchכ dεm de skata.
• Jεnεtik tεst: Dis kin no di mכtεshכn dεm na yu kolagen jin dεm. Dis go mek yu nid fɔ go na wan spɛshal klinik usay dɛn de mɛn jenɛtiks. Dɔktɔ go du dis wit blɔd tɛst ɔ saliva sɛmpul.
• Test fɔ yɛri (ɔdiogram): If dɔktɔ sɔprayz se Alport syndrome, dɛn kin ɔda fɔ mek dɛn du tɛst fɔ yɛri. Ɛnibɔdi we gɛt Alport syndrome fɔ gɛt dis tɛst. Dɛn fɔ du dis tɛst ɛvri sɔm ia fɔ si if di we aw pɔsin de yɛri de go dɔŋ ɔ i de wɔs.
• Ay ɛgzam: Na ay spɛshal pɔsin we spɛshal fɔ no ɛn trit ay sik dɛn fɔ du dis tɛst. Dɛn go chɛk yu yay ɛn luk di say we yu de si (kɔnia), lens, ɛn bak pan yu yay (rɛtina) fɔ si if Alport syndrome dɔn afɛkt yu yay. Dɛn kin du wan imej tɛst bak we dɛn kɔl optical coherence tomography (OCT).

Yu tink se dɛn kin mɛn di sik we dɛn kɔl Alport syndrome? Wetin na di tritmɛnt dɛn?

Nɔr mɛrɛsin nɔr de fɔ Alport syndrome. Risach pipul dɛn de wok pan jin tritmɛnt dɛn we de kɔrɛkt di jin dɛn we nɔ fayn, bɔt dɛn nɔ dɔn wok yet. Ivin if dɛn mek wan fayn fayn jin tɛrapi, i go tek sɔm ia bifo wi gɛt am. Bɔt sɔm tritmɛnt dɛn de we kin mek di kidni nɔ wok fayn ɛn i kin mek di kidni nɔ wok fayn.

Dɔktɔ kin gi yu tin dɛn lɛk:

• Angiotensin-converting enzyme (ACE) inhibitors: Dɛn tin ya kin mek yu blɔd prɛshɔn go dɔŋ, i kin mek di prɔtin we de na yu urine nɔ bɔku, ɛn i kin ɛp fɔ protɛkt yu kidni dɛn. Man dɛm we gɛt (XLAS) ɛn ɛnibɔdi we gɛt (ARAS) fɔ bigin tek ACE inhibitors afta dɛn dɔn no se dɛn gɛt di sik. uman dεm we gεt (XLAS) כ (ADAS) fכ stat fכ tek ACE inhibitors as soon as dεn bigin fכ si protin na dεn urine, כ di tεm we dεn no di sik.
• Angiotensin II rεsεptכr blכk dεm (ARB dεm): ARB dεm sεm lεk ACE inhibito dεm εn dεn gεt di sem bεnεfit dεm.
• Sodium-glucose transported type 2 (SGLT-2) inhibitors: If yu gɛt CKD ɔ Alport syndrome, SGLT-2 inhibitors kin ɛp fɔ ridyus yu risk fɔ mek yu kidni nɔ wok fayn. Yu dɔktɔ kin ad dɛn tin ya to yu ACE inhibitor ɔ ARB. Nɔto ɔl di SGLT-2 inhibito dɛn we dɛn dɔn gri fɔ trit CKD. Yu dɔktɔ nɔ go gi yu dɛn tin ya if yu eGFR rili smɔl.
• It we yu de it we gɛt sɔdiɔm: If yu nɔ gɛt bɔku sɔl ɛn sodium na yu it, dat kin ɛp fɔ mek yu blɔd prɛshɔn go dɔŋ ɛn mek yu kidni ɛn at gɛt wɛlbɔdi.

Kidni transplant kin mɛn Alport syndrome?

Yɛs ɛn nɔ. wit kidni transplant, yu gεt kidni wit nכmal ``Type IV kolagen'' εn filtrεshכn mεmbran dεm. So, Alport syndrome nɔ go kam bak na di nyu kidni.

Bɔt if pɔsin transplant in kidni i nɔ go ɛp fɔ gɛt ɔda sayn dɛn lɛk we i nɔ de yɛri fayn ɛn we i gɛt prɔblɛm wit in yay.

Aw wi go mek dis nɔ apin?

Dɛn nɔ kin ebul fɔ stɔp di sik we dɛn kɔl Alport syndrome. Bɔt if yu no bɔt yu famili istri, dat go ɛp yu fɔ no am kwik kwik wan. I kin ɛp yu bak fɔ mek yu pikin dɛn nɔ pas am.

Fɔ no di sik we dɛn kɔl Alport syndrome kwik kwik wan ɛn fɔ bigin tritmɛnt wit ACE inhibitors/ARBs ɛn SGLT-2 inhibitors na di bɛst we fɔ delay di kidni we nɔ de wok fayn.

If dɔktɔ se yu gɛt blɔd na yu urine, i go fayn fɔ mek yu du ɔda tɛst fɔ Alport syndrome, mɔ if yu gɛt prɔblɛm wit yu yɛri ɔ yu kidni nɔ de wok fayn.

If pɔsin na yu famili gɛt histri bɔt blɔd na yu urine (hematuria), dɔktɔ fɔ chɛk yu urine fɔ blɔd ɛn du blɔd tɛst fɔ chɛk yu kidni fɔ wok.

Aw mi layf go tan lɛk if a gɛt Alport syndrome?

Man dεm we gεt `(XLAS)` εn εnibodi we gεt `(ARAS)` kin gεt kidni fεil εn dεn kin yεri bכku tεm bifo dεn rich 30 ia.

Uman dɛn we gɛt XLAS kin gɛt nɔmal layfspan. Yu kin gɛt maykroskɔpik ɛmaturia, prɔtinuria, CKD, ɔ yu kidni nɔ de wok fayn ɛn yu nɔ de yɛri fayn. Ɔlman kin ansa difrɛn we. Bɔt 16% pan di uman dɛn go gɛt kidni fayl we dɛn ol 60 ia, ɛn 20% go gɛt we dɛn ol 80 ia.

Pipul wae gɛt `(ADAS)` kin gɛt difrɛn ansa, ɛn dɛn kin gɛt nɔrmal layfspan. di we aw yu de yεri εn di kidni fεil nכ kin kכmכn pan `(ADAS)`.

Krכnik kidni sik (CKD) εn kidni fεil kin sכt di layf span fכ pipul dεm we gεt Alport syndrome. CKD kin mek yu day pan at sik ɛn strok. If yu kidni nɔ wok fayn, i kin kil yu if yu nɔ du dayalaysis ɔ yu nɔ transplant yu kidni. Ivin wit tritmɛnt, if yu kidni nɔ wok fayn, dat kin mek yu day pan at sik, strok, ɛn infɛkshɔn. Dipen pan aw di kidni we dɛn transplant de wok fayn, we yu transplant kidni kin ɛp yu fɔ liv nɔmal layf.

Aw a kin kia fɔ misɛf?

If yu gɛt Alport syndrome, dɔktɔ go ɛp yu fɔ mek di bɛst tritmɛnt plan. Dis kin inklud mɛrɛsin ɛn chenj di we aw pɔsin de liv in layf.

Mɛdikal tritmɛnt

• Tek ACE inhibitor, ARB, ɔ SGLT-2 inhibitor lɛk aw yu dɔktɔ tɛl yu.
• Nɔ tek pen kil (nɔ-stɛroyd anti-inflammatory drɔgs - NSAID). Dɛn tin ya kin mek di kidni nɔ wok kwik if yu gɛt abnɔmal kidni wok ɔ Alport syndrome.
• Chek aw yu de yɛri.If yu nɔ de yɛri bad bad wan ɛn yu dɔktɔ se yu fɔ yuz tin fɔ ɛp yu fɔ yɛri, i go fayn fɔ yuz am. If nɔto dat, i nɔ go izi fɔ yu fɔ tɔk to ɔda pipul dɛn, ɛn dis go mek yu fil se yu wangren de ɛn yu nɔ de nia ɔda pipul dɛn. Dɛn kayn filin ya wae pɔrsin kin fil fɔ de wit ɔda pipul dɛm kin mek pɔrsin gɛt pwɛl hat. Di tin dɛm wae de ɛp yu fɔ yɛri kin mek yu gɛt bɛtɛ padi biznɛs wit di wan dɛm wae de arawnd yu, yu kin fil fayn, ɛn ɛp yu fɔ kɔntrol ɔr nɔr gɛt pwɛl hat sik.
• Tek kia ɔf yu maynd wɛlbɔdi. If yu gɛt wan sik we yu gɛt wit yu jɛnɛtiks, yu kin de yu wan, ɛn we yu lan se Alport syndrome kin mek yu kidni nɔ wok fayn ɔ yu nɔ de yɛri fayn, dat kin mek yu gɛt pwɛl hat. E fayn fɔ tɔk to yu dɔktɔ bɔt ɛni mɛntɛl hεlth prɔblɛm wae yu de gɛt ɛn gɛt de tritmɛnt wae yu nid. Aks yu dɔktɔ if sɔpɔt grup de fɔ pipul dɛm wae gɛt Alport syndrome. We yu mit pipul dɛn lɛk dat, dat kin ɛp yu fɔ lɛ yu nɔ fil se yu wangren de.

Di we aw pipul dɛn de liv dɛn layf kin chenj

• Ridyus di sɔl we de na yu it.
• If yu gɛt CKD, yu kin nid fɔ fala spɛshal it. Dis kin inklud fɔ ridyus di animal prɔtin we yu de it, chenj to plant-based it, avɔyd it dɛn we gɛt bɔku potashɔm if yu gɛt bɔku potashɔm na yu blɔd, ɛn nɔ it bɔku prɔtin if yu gɛt bɔku blɔd fɔsfɔr ɔ paratayroyd ɔmon (PTH).
• If yu fala di we aw yu de liv yu at, dat kin ɛp fɔ mek yu nɔ gɛt at sik, dayabitis, ɛn ɔda tin dɛn we kin mek yu kidni nɔ wok fayn. Ɛksesaiz lɛk fɔ waka kwik kwik wan, fɔ jok, fɔ swim, fɔ rayd baysikul, ɛn fɔ jomp rop fayn. I fayn bak fɔ mek yu gɛt wɛlbɔdi wet we go fayn fɔ yu.
• Nɔ smok ɛn ɔda tin dɛn we dɛn kin yuz fɔ smok. Si dɔktɔ if yu nid ɛp fɔ lɛf fɔ smok.

Ustɛm a fɔ go to dɔktɔ?

Si dɔktɔ if yu gɛt blɔd na yu urine, yu nɔ de yɛri fayn, ɔ yu nɔ de si fayn igen. Dɛn tin ya kin bi sayn dɛm fɔ Alport syndrome.

If yu gɛt Alport syndrome, mek shɔ se yu dɔktɔ rifer yu to kidni spɛshal dɔktɔ (nɛfrɔlɔjis).

If pɔsin na yu famili gɛt Alport syndrome, go to dɔktɔ fɔ si if yusɛf gɛt am.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

If yu tink se yu kin gɛt Alport syndrome, ɔr if pɔrsin na yu famili gɛt Alport syndrome, aks yu dɔktɔ dɛn kwɛstyɔn ya:

• Yu no aw fɔ no aw fɔ no di sik we dɛn kɔl Alport syndrome?
• Yu kin rifer mi to spɛshal pɔsin we sabi aw fɔ no aw fɔ no bɔt Alport syndrome?
• Blɔd de na mi urine?
• Yu tink se mi kidni de wok go dɔŋ?
• Yu tink se a fɔ du tɛst fɔ yɛri ɔ fɔ tɛst mi yay?
• Yu tink se a fɔ tek kidni bayɔpsi?
• Yu tink se a fɔ du tɛst fɔ mi jɛnɛtiks?

If yu gɛt Alport syndrome, aks yu dɔktɔ dɛn kwɛstyɔn ya:

• Aw yu no se a gɛt Alport syndrome?
• Ustɛm dɛn kin rifer mi to kidni spɛshal dɔktɔ (nɛfrɔlɔjis) we no bɔt Alpɔt sindrom?
• Us kayn Alport syndrome a gɛt?
• A go pas Alport syndrome to mi pikin dɛm?
• Wetin na mi `(GFR)`?
• Aw bɔku prɔtin de na mi urine?
• Ustɛm yu kin stat fɔ tek wan ACE inhibitor ɔ wan ARB?
• A go bɛnifit frɔm wan SGLT-2 inhibitor?
• Us ɔda mɛrɛsin dɛn yu kin advays?
• Aw ɔltɛm a fɔ mek apɔntin fɔ chɛk mi kidni wɛlbɔdi?
• Aw ɔltɛm a fɔ du tɛst fɔ yɛri?
• A fɔ gɛt dɔktɔ we de mɛn mi yay fɔ chɛk mi yay?
• Yu kin rεkomεnd sɔpɔt grup fɔ pipul dɛm wae gɛt Alport syndrome?

Alport syndrome na wan sik wae de pwɛl di blɔd vesel dɛm na yu kidni dɛm. di mכtεshכn dεm na yu jin dεm de afekt aw yu kidni dεm de wok, εn i kin afekt yu yεri εn vishכn bak.

Yu kin gɛt difrɛn kayn filin wae yu de kam fɔ no dis sik ɛn di we aw Alport syndrome de afɛkt yu layf. E fayn fɔ gi yusɛf tɛm ɛn ples fɔ ɔndastand yu sik ɛn di tritmɛnt opshɔn dɛm. We yu no di tin dɛn we yu go ebul fɔ du ɛn wetin fɔ ɛkspɛkt, dat go ɛp yu fɔ kɔntrol di we aw yu de fil. Na yu de disayd fɔ du di las tin bɔt yu wɛlbɔdi biznɛs, ɛn yu dɔktɔ de fɔ gi yu infɔmeshɔn ɛn gayd. If yu gɛt ɛni kwɛstyɔn, nid sɔpɔt, ɔ nid advays, tɔk to dɛn.

Di mɛsej we impɔtant pas ɔl fɔ kɛr go na os

Pan ɔl we Alport syndrome na siriɔs, layf-lɔng jenɛtik kɔndishɔn, fɔ no am kwik ɛn fɔ mɛn am fayn fayn wan kin ɛp pipul dɛn fɔ liv bɔku pan dɛn nɔmal layf.

If pɔsin na yu famili gɛt dɛn kayn sik ya (especially blɔd na yu urine, yu nɔ de yɛri fayn), ɔ if yusɛf gɛt dɛn, i nɔ kin ɛva let fɔ go to dɔktɔ. If yu du di rayt tɛst ɛn tritmɛnt, yu kin mek yu kidni nɔ pwɛl ɛn mek yu kɔntinyu fɔ liv yu layf. Mɛmba se nɔto yu wangren de, ɛn dɔktɔ dɛn ɛn di wan dɛn we yu lɛk de fɔ ɛp yu.

` Alport syndrome, kidni sik, jenɛtik sik, kolagen, blɔd na di urine, yu nɔ de yɛri, yu yay sik