Sengoli: John Pratt
Letsatsi La Creation: 14 Hlakubele 2021
Ntlafatsa Letsatsi: 9 Pherekhong 2025
Anonim
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Litaba

Hunter Syndrome, e tsejoang hape e le Mucopolysaccharidosis mofuta oa II kapa MPS II, ke lefu le sa tloaelehang la liphatsa tsa lefutso le atileng haholo ho banna le khetholloang ke khaello ea enzyme, Iduronate-2-Sulfatase, e bohlokoa bakeng sa ts'ebetso e nepahetseng ea 'mele.

Ka lebaka la phokotseho ea tšebetso ea enzyme ena, ho na le pokello ea lintho kahare ho lisele, tse hlahisang matšoao a matla le phetoho e tsoelang pele, joalo ka ho thatafala ha manonyeletso, pelo le liphetoho tsa phefumoloho, ponahalo ea liso tsa letlalo le liphetoho tsa methapo ea kutlo, mohlala .

Matšoao a Hunter Syndrome

Matšoao a Hunter Syndrome, lebelo la kholo ea mafu le ho teba ho fapana ho ea ka batho, litšobotsi tsa mantlha tsa lefu lena ke:

  • Liphetoho tsa methapo ea pelo, ka monyetla oa khaello ea kelello;
  • Hepatosplenomegaly, e leng ho holisa sebete le spleen, ho lebisang katolosong ea mpa;
  • Ho satalla ho kopaneng;
  • Sefahleho se mahoashe le se sa arohaneng, se nang le hlooho e kholo, nko e sephara le molomo o teteaneng, mohlala;
  • Ho lahleheloa ke kutlo;
  • Tsoelo-pele ea retina;
  • Ho thata ho tsamaea;
  • Ho tšoaetsoa khafetsa ke phefumoloho;
  • Ho thata ho bua;
  • Ponahalo ea liso tsa letlalo;
  • Boteng ba hernias, haholo-holo umbilical le inguinal.

Maemong a mabe le ho feta ho ka ba le liphetoho tsa pelo, ka ho fokotseha ha tšebetso ea pelo, le liphetoho tsa ho hema, tse ka lebisang ho tšitiso ea sefofane le ho eketsa menyetla ea tšoaetso ea phefumoloho, e ka bang mpe.


Ka lebaka la hore matšoao a bonahala le ho fetoha ka tsela e fapaneng har'a bakuli ba nang le lefu lena, nako ea bophelo le eona ea fetoha, ka monyetla o moholo oa lefu pakeng tsa lilemo tse leshome le metso e 'meli tsa pele tsa bophelo ha matšoao a le matla le ho feta.

Mokhoa oa ho hlahloba o etsoa joang

Ho fumanoa ha Hunter Syndrome ho etsoa ke setsebi sa lefutso kapa ngaka e akaretsang ho latela matšoao a hlahisitsoeng ke motho eo le sephetho sa liteko tse ikhethang. Ho bohlokoa hore tlhahlobo e se ke ea etsoa feela ho ipapisitsoe le lingaka, hobane litšobotsi li ts'oana haholo le tsa tse ling tsa mucopolysaccharidoses, mme ho bohlokoa hore ngaka e laele liteko tse ikhethang. Ithute haholoanyane ka mucopolysaccharidosis le hore na u ka e tseba joang.

Kahoo, ho bohlokoa ho metha li-glycosaminoglycans morotong mme, haholo-holo, ho lekola maemo a ts'ebetso ea enzyme Iduronate-2-Sulfatase ho li-fibroblast le plasma. Ntle le moo, liteko tse ling hangata li khothaletsoa ho lekola ho tiea ha matšoao, joalo ka ultrasound, liteko tsa ho lekola matla a ho hema, audiometry, liteko tsa methapo ea kutlo, tlhahlobo ea mahlo le molumo oa lehata le mokokotlo, mohlala.


Kalafo ea Hunter Syndrome

Kalafo ea Hunter Syndrome e fapana ho latela litšobotsi tse hlahisoang ke batho, leha ho le joalo hangata ho khothaletsoa ke ngaka ho etsa phetoho ea enzyme ho thibela tsoelo-pele ea lefu lena le ponahalo ea mathata.

Ntle le moo, ngaka e khothaletsa kalafo e ikhethileng bakeng sa matšoao a hlahisitsoeng le kalafo ea mosebetsing le kalafo ea 'mele molemong oa ho susumetsa puo le motsamao oa bakuli ba nang le Syndrome ho thibela mathata a koloi le a puo, mohlala.

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