Alport chirwere

Alport syndrome chirwere chakagarwa nhaka chinokuvadza midziyo midiki yeropa muitsvo. Izvo zvinokonzeresa kurasikirwa kwekunzwa uye matambudziko eziso.

Alport syndrome inzira inogarwa yeitsvo kuzvimba (nephritis). Iyo inokonzerwa nehurema (mutation) mune geni reprotein mune inobatanidza nyama, inonzi collagen.

Chirwere ichi hachiwanzoitika. Kune matatu mageneti marudzi:

• X-yakabatana neAlport syndrome (XLAS) - Iyi ndiyo mhando yakajairika. Chirwere ichi chakanyanya kuvarume pane chevakadzi.
• Autosomal recessive Alport syndrome (ARAS) - Vanhurume nevanhukadzi vane chirwere chakakomba zvakaenzana.
• Autosomal rinotungamira Alport syndrome (ADAS) - Iyi ndiyo mhando yeRashst. Vanhurume nevanhukadzi vane chirwere chakakomba zvakaenzana.

KIDHIYA

Nemhando dzose dzeAlport syndrome itsvo dzinokanganiswa. Tutsinga tuduku tweropa muglomeruli reitsvo dzakakuvara. Iyo glomeruli inosvina ropa kugadzira weti uye kubvisa marara kubva muropa.

Pakutanga, hapana zviratidzo. Nekufamba kwenguva, sezvo iyo glomeruli iri kuwedzera uye nekukuvara, kushanda kweitsvo kunorasika uye marara zvigadzirwa uye zvinwiwa zvinowanda mumuviri. Mamiriro acho anogona kufambira mberi kusvika kumagumo-danho renal chirwere (ESRD) pazera diki, pakati pekuyaruka kusvika zera makumi mana. Panguva ino, dialysis kana kuisirwa itsvo kunodiwa.

Zviratidzo zvezvinetso zveitsvo zvinosanganisira:

• Wakajairika weti weti
• Ropa mumuguta (iro rinogona kuwedzerwa nepamusoro hwehutachiona hwekufema kana kurovedza muviri)
• Flank kurwadziwa
• Kuwedzera kweropa
• Kuzvimba mumuviri wese

Nzeve

Nekufamba kwenguva, Alport syndrome inotungamira mukurasikirwa kwekunzwa. Nevekutanga vechidiki, zvakajairika muvanhurume vane XLAS, kunyangwe muvakadzi, kurasikirwa kwekunzwa hakuna kujairika uye kunoitika kana vakura. NeAAS, vakomana nevasikana vane kurasikirwa kwekunzwa panguva yehudiki. Iine ADAS, inoitika gare gare muhupenyu.

Kunzwa kurasikirwa kunowanzoitika itsvo isati yakundikana.

MAZISO

Alport syndrome inotungamira kumatambudziko eziso, kusanganisira:

• Chimiro chisina kujairika che lens (anterior lenticonus), izvo zvinogona kutungamira mukudzikira kunonoka muchiono pamwe nekati.
• Corneal kudengenyeka uko kune kurasikirwa kwekunze kwekuvharwa kweziso reziso, zvichitungamira mukurwadziwa, kuchenesa, kana kutsvuka kweziso, kana kuona kwakasviba.
• Makara asina kujairika eiyo retina, mamiriro anonzi dot-uye-fleck retinopathy. Hazvikonzeri matambudziko ekuona, asi zvinogona kubatsira kuongorora Alport syndrome.
• Macular gomba mune iko kutetepa kana kutyora mukati macula. Iyo macula chikamu chetina chinoita kuti chiratidzo chepakati chive chakapinza uye chiwedzere kutsanangurwa. Hombe macular inokonzeresa kuona kana kukanganisa maonero epakati.

Anopa hutano anozokuongorora obvunza nezve zviratidzo zvako.

Iyi bvunzo inotevera inogona kuitwa:

• BUN uye serum creatinine
• Yakazara kuverenga ropa
• Renal biopsy
• Kuongorora urinal

Kana mupi wako achifungidzira kuti une Alport syndrome, iwe zvakare uchave uine kuona uye kunzwa bvunzo.

Zvinangwa zvekurapa zvinosanganisira kuongorora uye kudzora chirwere uye kurapa zviratidzo.

Wako mupi anogona kukurudzira chero cheanotevera:

• Kudya kunogumira munyu, zvinwiwa, uye potasium
• Mishonga yekudzivirira kukwira kweropa

Chirwere cheitsvo chinotarisirwa ne:

• Kutora mishonga kunonoka kukuvara kweitsvo
• Kudya kunotadzisa munyu, zvinwiwa, uye mapuroteni

Kunzwa kurasikirwa kunogona kutarisirwa pamwe nekunzwa zvinobatsira. Zvinetso zvemaziso zvinobatwa sekudikanwa. Semuenzaniso, lens isina kujairika nekuda kwerenticonus kana cataract inogona kutsiviwa.

Genetic counselling inogona kukurudzirwa nekuti kusagadzikana kunogarwa nhaka.

Izvi zviwanikwa zvinopa rumwe ruzivo nezveAlport syndrome:

• Alport Syndrome Foundation - www.alportsyndrome.org/about-alport-syndrome
• National Kidney Foundation - www.kidney.org/atoz/content/alport
• National Sangano reRare Dambudziko - rarediseases.org/rare-diseases/alport-syndrome

Vakadzi vanowanzo kuve nehupenyu hwakajairika vasina zviratidzo zvechirwere kunze kweropa riri weti. Muzviitiko zvisingawanzoitika, vakadzi vane kuwedzerwa kweropa, kuzvimba, uye matsi yematumbo sechinetso chepamuviri.

Muvarume, matsi, matambudziko ekuona, uye chirwere cheitsvo-chekupera chingangoita zera makumi mashanu.

Itsvo padzinokundikana, dialysis kana kuisirwa zvichazodiwa.

Dana kuti usangane nemupi wako kana:

• Iwe une zviratidzo zveAlport syndrome
• Iwe une nhoroondo yemhuri yeAlport syndrome uye urikuronga kuita vana
• Weti yako inobuda inoderera kana kumira kana iwe ukaona ropa mumurini rako (ichi chingave chiratidzo chechirwere chetsvo chisingaperi)

Kuziviswa kwezvinhu zvine njodzi, senge nhoroondo yemhuri yechirwere ichi, zvinogona kubvumidza mamiriro kuti aonekwe nekukurumidza.

Nhaka nephritis; Hematuria - nephropathy - matsi; Hemorrhagic yemhuri nephritis; Nhaka matsi uye nephropathy

• Itsvo anatomi

Gregory MC. Alport syndrome uye zvinetso zvakabatana. Mune: Gilbert SJ, Weiner DE, eds. National Kidney Foundation Primer pane itsvo Zvirwere. 7th ed. Philadelphia, PA: Elsevier; 2018: chitsuwa 42.

Radhakrishnan J, Appel GB, D'Agati VD. Sekondari glomerular chirwere. Mune: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner uye Rector Iyo Itsvo. 11th ed. Philadelphia, PA: Elsevier; 2020: chits. 32.

Rheault MN, Kashtan CE. Alport syndrome uye mamwe emhuri glomerular syndromes. Muna: Feehally J, Floege J, Tonelli M, Johnson RJ, eds. Yakakwana Kliniki Nephrology. 6th ed. Philadelphia, PA: Elsevier; 2019: chits.