Adrenoleukodystrophy
Pfupiso
Adrenoleukodystrophy (uh-dree-noh-loo-koh-DIS-truh-fee) chirwere chinzvimbo chinogara kuri muropa (genetic) chinovakuvadza membrane (myelin sheath) inodzivirira masero ane nerve muuropi hwako.
Mu adrenoleukodystrophy (ALD), muviri wako haukwanisi kuputsa mafuta acids refu kwazvo (VLCFAs), zvichikonzera saturated VLCFAs kuunganidzwa muuropi hwako, nervous system uye adrenal gland.
Rudzi runowanzoitika rwe ALD ndiro X-linked ALD, rinokonzerwa nekusakwana kwe genetic pa X chromosome. X-linked ALD inokanganisa varume zvakanyanya kupfuura vakadzi, avo vanotakura chirwere.
Maitiro e X-linked ALD anosanganisira:
- Childhood-onset ALD. Iyi fomu ye X-linked ALD kazhinji inoitika pakati pemakore e4 ne10. White matter yeuropi inokuvadzwa zvishoma nezvishoma (leukodystrophy), uye zviratidzo zvinoipisisa nekufamba kwenguva. Kana isina kuonekwa nekukurumidza, childhood-onset ALD inogona kukonzera rufu mukati memakore mashanu kusvika ku10.
- Addison's disease. Hormone-producing glands (adrenal glands) kazhinji hadzibudiriri kuburitsa steroids zvakakwana (adrenal insufficiency) muvanhu vane ALD, zvichikonzera fomu ye X-linked ALD inozivikanwa se Addison's disease.
- Adrenomyeloneuropathy. Iyi fomu ye X-linked ALD inotanga pakuva mukuru ndeye isina kuoma uye inofambira mberi zvishoma nezvishoma inokonzera zviratidzo senge kufamba kwakasimba uye bladder ne bowel dysfunction. Vakadzi vanotakura ALD vanogona kuwana fomu shoma ye adrenomyeloneuropathy.
Kuongorora
Kuongorora ALD, chiremba wenyu achatarisa zviratidzo zvenyu uye nhoroondo yenyu yezvokurapa nemhuri. Chiremba wenyu achaita bvunzo yemuviri uye oda bvunzo dzakawanda, kusanganisira:
- MRI. Magineti ane simba nemafungu eradio anoita mifananidzo yakajeka yehuropi hwako mukuongororwa kweMRI. Izvi zvinoita kuti vanachiremba vaone zvinhu zvisina kunaka muhuropi hwako izvo zvingaratidza adrenoleukodystrophy, kusanganisira kukuvara kune tishu dzenervhi (chena) yehuropi hwako. Vanachiremba vanogona kushandisa marudzi akasiyana siyana eMRI kuti vaone mifananidzo yakajeka kwazvo yehuropi hwako uye vaone zviratidzo zvepakutanga zve leukodystrophy.
- Kuongororwa kwekuona. Kuyeresa mhinduro dzekuona kunogona kutarisa kufambira mberi kwechirwere muvarume vasina zvimwe zviratidzo.
- Biopsy yeganda nekukura kwema cell fibroblast. Sampuli diki yeganda inogona kutorwa kuti iongorore kuwanda kwe VLCFA mune dzimwe nguva.
Kuongororwa kweropa. Idzi bvunzo dzinotarisa kuwanda kwemafuta acid marefu kwazvo (VLCFAs) muropa rako, izvo zviri chiratidzo chikuru che adrenoleukodystrophy.
Vanachiremba vanoshandisa sampuli dzeropa kuti vaite bvunzo dzemajini kuti vaone zvikanganiso kana shanduko dzinokonzera ALD. Vanachiremba vanoshandisawo bvunzo dzeropa kuti vaongorore kuti mazamu ako e adrenal anoshanda zvakanaka sei.
Kurapa
Adrenoleukodystrophy haina mushonga. Zvisinei, kupantransplantwa kwemasero etsinga kungamisa kufambira mberi kweALD kana zvaitwa kana zviratidzo zvehutachiona zvaonekwa kekutanga. Vanachiremba vachagara vachitarisa pakudzikisa zviratidzo zvako uye kudzikisa kufambira mberi kwechirwere. Nzira dzekurapa dzinogona kusanganisira:
- Kupanda masero etsinga. Izvi zvinogona kuva sarudzo yekudzikisa kana kumisa kufambira mberi kwe adrenoleukodystrophy muvana kana ALD yakawanikwa ichirapwa pakutanga. Masero etsinga anogona kubviswa mumapfupa ne kupanda mapfupa.
- Kurapa kushomeka kwe adrenal. Vanhu vazhinji vane ALD vanowana kushomeka kwe adrenal uye vanoda kuongororwa kazhinji kwe adrenal gland. Kushomeka kwe adrenal kunogona kurapwa zvakanaka ne steroids (corticosteroid replacement therapy).
- Mishonga. Chiremba wako anogona kunyora mishonga yekubatsira kudzikisa zviratidzo, kusanganisira kuoma uye kuita zvikwata.
- Kurapa kwemuviri. Kurapa kwemuviri kunogona kubatsira kudzikisa kuomarara kwemisungo uye kudzikisa kuoma kwemisungo. Chiremba wako anogona kukurudzira michina yekufamba kana zvichidiwa.
Panyaya yekuedzwa kwezvipatara, vakomana vane cerebral ALD yekutanga vakarapwa ne gene therapy sechinhu chinotsiva kupantransplantwa kwemasero etsinga. Mhedzisiro yekutanga ye gene therapy inofadza. Kufambira mberi kwechirwere kwakadzika mu88 muzana yevakomana vakaita chikamu muedzo. Kutsvakurudza kuwedzerwa kunodiwa kuongorora mhedzisiro yenguva refu uye kuchengetedzwa kwe gene therapy ye cerebral ALD.
Chiziviso: August ipuratifomu yemashoko ehutano uye mhinduro dzayo haisi zano rekurapa. Gara uchibvunza nyanzvi yezvekurapa ine rezinesi pedyo newe usati waita chero shanduko.
Yakagadzirwa muIndia, kune nyika