Zellweger syndrome isingawaniki, inokonzerwa nehutachiona hwehutachiona hunobata peroxisomes, organelles inowanikwa munenge masero ose emutumbi. Peroxisomes inokonzera mitambo yakakosha yemasero, kusanganisira simba metabolism, zvinoreva kuti Zellweger syndrome inogona kukanganisa muviri. Dzidza nezvekuti Zellweger syndrome inobata sei muviri, pamwe nekurapa uye mazano ekupa mazano ekuberekwa.
Zellweger Spectrum Matambudziko
Zellweger syndrome ndiyo yakanyanya kunyanya yeboka rematambudziko anonzi Zellweger spectrum disorders. Kunyange zvazvo kushungurudzika pamitambo yakambofungidzirwa kuti yakasiyana nedzimwe nhengo, hazvisi zvinyorwa zvakasiyana-siyana zveimwe chirwere chirwere. Zvinetso zveZellweger spectrum zvinosanganisira:
- Cerebrohepatorenal Syndrome
- Hyperpipecolic acidemia
- Infantile Refsum Disease
- Neonatal Adrenoleukodystrophy
- Zellweger Syndrome
Izvo zvinetso zvinowanzoita zviratidzo zvizhinji, asi havasi vanhu vose vachave nezviratidzo zvakafanana kana migumisiro zvichienderana nepo pavanowira pamitambo.
Zviratidzo
Zellweger syndrome inofungidzirwa kuti inowanikwa mune 1 kubva kune 50 000 kusvika ku100 000. Vose varume nevakadzi vanogona kuberekwa nemamiriro aya. Inobata zvikamu zvakawanda zvemuviri, kusanganisira:
- Musoro uye chiso: musoro wakawedzerwa; kumusoro kwehuma; guru anterior fontanelle ("nzvimbo yakanyoro"); kusagadzikana earlobes; flat-looking face
- Ubongo uye nervous system: hutano husina kunaka hunoita kuti munhu atambuke ; kunzwa uye kuonekwa kusimba; kuora mwoyo kwakanyanya uye kukurumidza kukura; kuderedza kana kusavapo mafungiro
- Chiropa: chiropa chakawedzerwa chisina simba; jaundice
- Nsoyo: majee emvura; hydronephrosis
- Misungo nemapfupa: mutsipa wakadzika kwazvo (hypotonia); bone mapfupa mumaoko, makumbo, uye tsoka
Kuziva
Chimiro chakasiyana chemusoro uye chiso chechecheche akazvarwa neZellweger syndrome chinopa ruzivo rwekuongororwa. Zellweger syndrome inokonzera kuve kwe-chain-long-chain chain chain acids (VLCFA), saka kuedza kweVLCFA kunogona kubatsira kusimbisa kuongororwa. Izvi nezvimwe zvakanyanyogadziriswa zvehupenyu uye maitiro ekuberekwa zvinogona kuitwa pane dzimwe nzvimbo dzokuedza.
Kurapa
Pasinei nekufambira mberi kwekutsvakurudza kwakaitwa pakunzwisisa Zellweger syndrome, hapana mushonga unovapo, uye vacheche vakaberekwa vane chirwere vanofa mukati megore rokutanga rehupenyu. Kuchengetwa kwechiremba kunotarisa pakurapa zviratidzo zviripo, zvakadai sechiropa chisingaiti uye kukanganisa. Kuchinja huwandu hweVLCFA muzvokudya hauna kuratidzirwa kuva mushonga unoshanda.
Mukuwedzera, chirongwa chemuviri, chebasa, uye chekutaura chinogona kubatsira nekudya nekunyaradza nyaya.
Genetic Counseling
Kutanga kuwanikwa kweZellweger syndrome nezvimwe zvinetso zveZellweger zvinoratidzika zvinokwanisika kuburikidza nekuongorora mazita ekuberekwa. Zellweger syndrome inotora nhaka muzvinyorwa zvisingabatsiri , zvichireva kuti vana vanozvikuririra kana vabereki vose vari kutakura chirwere chakaremara. Kana izvi zviri izvo, mwana wega wega wemangwana ane 25 muzana mukana wekuzvarwa neZellweger syndrome.
Genetic advisors vanogona kubatsira kukutaura iwe kuburikidza nedambudziko rako.
Sources:
Chedrawi, A, & Clark, G. (2002). Peroxisomal zvinetso. eMedicine.
Grayer, J. (2005). Kuzivikanwa kweZellweger syndrome mucheche. Adv Neonatal Care, 5 (1), 5-13.