Sengoli: Joan Hall
Letsatsi La Creation: 27 Hlakubele 2021
Ntlafatsa Letsatsi: 3 Pherekhong 2025
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Aase syndrome ke lefu le sa tloaelehang le amanang le phokolo ea mali le bofokoli bo itseng ba manonyeletso le masapo.

Maemo a mangata a lefu la Aase a etsahala ntle le lebaka le tsejoang mme ha a fetisoe ke malapa (a futsitsoeng). Leha ho le joalo, linyeoe tse ling (45%) li bontšitsoe li futsitsoe.Tsena li bakoa ke phetoho ea 1 ho liphatsa tsa lefutso tsa 20 tse bohlokoa bakeng sa ho etsa liprotheine ka nepo (liphatsa tsa lefutso li etsa liprotheine tsa ribosomal).

Boemo bona bo ts'oana le phokolo ea mali ea Diamond-Blackfan, mme maemo ana a mabeli ha a lokela ho aroloa. Sekhechana se sieo ka chromosome 19 se fumanoa ho batho ba bang ba nang le phokolo ea mali ea Diamond-Blackfan.

Phokolo ea mali ho Aase syndrome e bakoa ke nts'etsopele e mpe ea moko oa masapo, e leng moo lisele tsa mali li thehoang teng.

Matšoao a ka kenyelletsa:

  • Li-knuckle tse sieo kapa tse nyane
  • Molomo o petsohileng
  • Litsebe tse holofetseng
  • Dintshi tsa droopy
  • Ho se khone ho holisa manonyeletso ka botlalo ho tloha tsoalong
  • Mahetla a moqotetsane
  • Letlalo le putswa
  • Menwana e metona ya maoto a mararo

Mofani oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele. Liteko tse ka etsoang li kenyelletsa:


  • Tlhahiso ea moko oa masapo
  • Palo e felletseng ea mali (CBC)
  • Echocardiogram
  • Li-X-ray

Kalafo e ka kenyelletsa litšelo tsa mali selemong sa pele sa bophelo ho phekola phokolo ea mali.

Moriana oa steroid o bitsoang prednisone le ona o sebelisitsoe ho alafa phokolo ea mali e amanang le lefu la Aase. Leha ho le joalo, e lokela ho sebelisoa feela kamora ho lekola melemo le likotsi ho mofani ea nang le boiphihlelo ba ho phekola anemias.

Ho kenyelletsa 'mele oa masapo ho ka hlokahala haeba kalafo e' ngoe e sa atlehe.

Phokolo ea mali e lula e ntlafala ka lilemo.

Mathata a amanang le phokolo ea mali a kenyelletsa:

  • Mokhathala
  • Ho fokotsa oksijene maling
  • Bofokoli

Mathata a pelo a ka lebisa ho mathata a fapaneng, ho latela bothata bo itseng.

Liketsahalo tse matla tsa lefu la Aase li amahanngoa le ho tsoaloa ha ngoana kapa lefu la pele ho nako.

Ho khothaletsoa tlhabollo ea lefutso haeba o na le nalane ea lelapa ea lefu lena mme o lakatsa ho ima.

Lefu la Aase-Smith; Phokolo ea mali e nang le hypoplastic - maoto a maoto a triphalangeal, mofuta oa Aase-Smith; Diamond-Blackfan e nang le AS-II


Clinton C, Gazda HT. Phokolo ea mali ea Diamond-Blackfan. Litlhahlobo. 2014: 9. PMID: 20301769 www.ncbi.nlm.nih.gov/pubmed/20301769. E ntlafalitsoe ka la 7 Hlakubele 2019. E fihlile ka Phupu 31, 2019.

Gallagher PG. Leonatal erythrocyte le mathata a eona. Ka: Orkin SH, Fisher DE, Ginsburg D, Sheba AT, Lux SE, Nathan DG, eds. Nathan le Oski's Hematology le Oncology ea Bacha le ea bongoana. La 8th. Philadelphia, PA: Elsevier Saunders; 2015: khaolo ea 2.

CD ea Thornburg. Phokolo ea mali ea congenital hypoplastic (Diamond-Blackfan anemia). Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 475.

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