Cov mob alport

Alport syndrome yog ib qho kev mob uas muaj raws caj ces uas ua rau cov ntshav me me hauv lub raum puas. Nws tseem ua rau pob ntseg tsis hnov ​​lus thiab teeb meem.

Alport syndrome yog daim ntawv muaj keeb ntawm lub raum mob (nephritis). Nws tshwm sim los ntawm qhov tsis xws luag (hloov chaw) hauv ib caj rau cov protein hauv cov nqaij txuas, hu ua collagen.

Qhov kev tsis zoo yog muaj tsawg. Muaj peb hom caj:

• X-txuas Alport syndrome (XLAS) - Qhov no yog hom feem ntau. Tus kab mob yog yam mob hnyav dua rau cov txiv neej hauv poj niam.
• Autosomal recessive Alport syndrome (ARAS) - Cov txiv neej thiab poj niam muaj mob sib luag.
• Autosomal tseem ceeb Alport syndrome (ADAS) - Qhov no yog hom tsis tshua muaj neeg. Cov txiv neej thiab poj niam muaj mob sib npaug.

KABLAJ

Nrog txhua hom Alport syndrome lub raum cuam tshuam. Cov hlab ntsha me me hauv lub glomeruli ntawm ob lub raum tau puas. Lub glomeruli lim ntshav ua kom cov zis thiab tshem tawm cov khoom pov tseg hauv cov ntshav.

Thaum pib, tsis muaj tsos mob dab tsi. Sij hawm dhau mus, raws li cov glomeruli ntau thiab ntau dua kev puas tsuaj, lub raum kev ua haujlwm yog qhov ploj thiab cov khoom pov tseg thiab cov kua hauv lub cev. Tus mob tuaj yeem hloov mus rau kev mob raum ntu kawg (ESRD) thaum hnub nyoog ntxov, thaum tiav hluas thiab hnub nyoog 40. Txog rau tam sim no, lim ntshav los yog lub raum mob ntxiv.

Cov tsos mob ntawm lub raum muaj xws li:

• Mob plab tsis zoo
• Cov ntshav nyob hauv cov zis (uas tuaj yeem ua rau mob hnyav dua los ntawm kev ua pa ntawm lub hauv siab lossis qoj ib ce)
• Flank mob
• Ntshav siab
• O o thoob plaws lub cev

NTXOV

Sij hawm dhau mus, Alport syndrome kuj ua rau hnov ​​lus tsis zoo. Los ntawm cov hluas thaum ntxov, nws nquag tshwm sim hauv cov txiv neej nrog XLAS, tab sis ntawm cov poj niam, kev hnov ​​lus tsis zoo thiab tsis zoo li thaum lawv yog neeg laus. Nrog ARAS, cov tub thiab cov ntxhais tau hnov ​​tsis hnov ​​lus zoo thaum menyuam yaus. Nrog ADAS, nws tshwm sim tom qab lub neej.

Hnov feem ntau hnov ​​ua ntej lub raum tsis ua haujlwm.

EYES

Alport syndrome kuj ua rau cov teeb meem qhov muag, suav nrog:

• Qhov txawv txav ntawm lub lens (anterior lenticonus), uas tuaj yeem ua rau lub ntsej muag tsis tshua pom kev zoo li cuam tshuam tawm.
• Corneal yaig uas qhov poob ntawm qhov txheej txheej sab nraud ntawm lub npog qhov muag, ua rau mob, khaus, lossis liab ntawm lub qhov muag, lossis qhov muag plooj.
• Kev pleev xim tsis zoo ntawm lub retina, ib qho mob hu ua dot-and-fleck retinopathy. Nws tsis yog ua rau pom teeb meem, tab sis tuaj yeem pab kuaj xyuas Alport syndrome.
• Macular lub qhov hauv uas muaj thinning lossis so hauv lub macula. Lub macula yog ib feem ntawm qhov retina uas ua rau lub zeem muag nruab nrab zoo thiab muaj cov ncauj lus kom ntxaws. Lub qhov taub macular ua rau qhov muag plooj lossis distorted lub zeem muag.

Tus kws kho mob yuav kuaj xyuas koj thiab nug koj cov tsos mob.

Cov kev xeem hauv qab no tuaj yeem ua:

• BUN thiab ntshav dej creatinine
• Ua kom tiav cov ntshav suav
• Tso zis me me
• Mob Lub Hlaus

Yog tias koj tus kws kho mob xav tias koj muaj Alport syndrome, koj kuj yuav tuaj yeem kuaj qhov muag thiab pob ntseg.

Cov hom phiaj ntawm kev kho mob suav nrog kev saib xyuas thiab tswj tus kab mob thiab kho cov tsos mob.

Koj tus kws khomob yuav qhia cov hauvqab no:

• Kev noj haus uas txwv ntsev, haus dej, thiab poov tshuaj
• Tshuaj kho mob los tswj ntshav siab

Kab mob raum yog tswj hwm los ntawm:

• Noj tshuaj kom qeeb raum kev puas tsuaj
• Kev noj haus uas txwv ntsev, kua thiab muaj protein ntau

Kev hnov ​​lus tuaj yeem tswj tau nrog cov twj hnov ​​lus. Qhov muag teeb meem tau kho raws li xav tau. Piv txwv, lub ntsej muag tsis haum vim yog lub lenticonus lossis cataracts tuaj yeem hloov.

Kev sab laj txog caj ces yuav raug pom zoo vim tias qhov kev tsis sib haum xeeb muaj raws caj ces.

Cov peev txheej no qhia ntau txog Alport syndrome:

• Alport Syndrome Foundation - www.alportsyndrome.org/about-alport-syndrome
• Lub Hauv Paus Rhia Tebchaws - www.kidney.org/atoz/content/alport
• Koom Haum Koom Tes rau Cov Kab Mob Tsis Txaus - rarediseases.org/rare-diseases/alport-syndrome

Cov poj niam feem ntau ua rau lub neej tsis muaj mob uas tsis muaj cov tsos mob ntawm tus kabmob tshwj tsis yog ntshav rau hauv cov zis. Muaj qee zaus, cov poj niam muaj ntshav siab, o, thiab cov leeg lag ntseg yog qhov ua rau xeeb tub.

Cov txiv neej, lag ntseg, lag ntseg tsis pom kev, thiab mob raum mus txog qib raum yuav tshwm sim muaj hnub nyoog 50 xyoo.

Raws li lub raum tsis ua haujlwm, kev lim ntshav lossis hloov ntshav yuav tau noj.

Hu mus teem sijhawm nrog koj tus kws khomob yog:

• Koj muaj tsos mob tshwm sim ntawm Alport syndrome
• Koj muaj ib tsev neeg muaj keeb kwm ntawm Alport syndrome thiab koj tab tom npaj yuav muaj menyuam
• Koj cov zis tso zis tsawg lossis tso tseg lossis koj pom muaj ntshav hauv koj cov zis (qhov no yuav yog cov tsos mob ntawm lub raum ntev)

Kev paub txog ntawm kev phom sij, xws li tsev neeg keeb kwm ntawm kev puas tsuaj, tuaj yeem tso cai kuaj mob ntxov.

Kab mob rwj nephritis; Hematuria - nephropathy - lag ntseg; Hemorrhagic tsev neeg nephritis; Cov kab mob tsis hnov ​​lus thiab tsis mob nephropathy

• Raum anatomy

Gregory MC. Alport syndrome thiab lwm yam kev cuam tshuam. Hauv: Gilbert SJ, Weiner DE, eds. National Kas raum Foundation tus Keeb Kwm rau Kab Mob RaumCov. 7 tus ed. Philadelphia, PA: Elsevier; 2018: chap 42.

Radhakrishnan J, Appel GB, D'Agati VD. Kab mob glomerular Secondary. Hauv: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner thiab Rector's RaumCov. 11th ed. Philadelphia, PA: Elsevier; 2020: chap 32.

Rheault MN, Kashtan CE. Alport syndrome thiab lwm cov tsev neeg cov ntshav cov plaub hau ua ke. Hauv: Feehally J, Floege J, Tonelli M, Johnson RJ, eds. Cov Chaw Kho Mob Tshaj LojCov. 6 tus ed. Philadelphia, PA: Elsevier; 2019: chap 46.