Matenda a Aase

Matenda a Aase ndi matenda osowa omwe amaphatikizapo kuchepa kwa magazi m'thupi ndi zina zolumikizana ndi mafupa.

Matenda ambiri a Aase syndrome amapezeka popanda chifukwa chodziwika ndipo samaperekedwa kudzera m'mabanja (obadwa nawo). Komabe, milandu ina (45%) yawonetsedwa kuti idalandidwa.Izi zimachitika chifukwa cha kusintha kwa majini 1 mwa 20 ofunikira kupanga mapuloteni molondola (majini amapanga mapuloteni a ribosomal).

Vutoli ndilofanana ndi kuchepa kwa magazi kwa Diamond-Blackfan, ndipo zinthu ziwirizi siziyenera kulekanitsidwa. Chidutswa chosowa pa chromosome 19 chimapezeka mwa anthu ena omwe ali ndi kuchepa kwa magazi kwa Diamond-Blackfan.

Kuchepa kwa magazi mu matenda a Aase kumayambitsidwa chifukwa cha kukula kwamafuwa am'mafupa, ndipamene amapangidwira maselo amwazi.

Zizindikiro zimaphatikizapo:

• Zosowa kapena zazing'ono
• Chatsitsa m'kamwa
• Makutu opunduka
• Zikopa za Droopy
• Kulephera kukulitsa gawo lonse kuchokera pakubadwa
• Mapewa opapatiza
• Khungu lotumbululuka
• Zala zazikuluzikulu zophatikizana katatu

Wothandizira zaumoyo adzayesa. Mayeso omwe angachitike ndi awa:

• Kutupa kwa mafupa
• Kuwerengera kwathunthu kwa magazi (CBC)
• Zojambulajambula
• X-ray

Chithandizo chitha kuphatikizira kuthiridwa magazi mchaka choyamba chamoyo kuti muchepetse kuchepa kwa magazi.

Mankhwala a steroid otchedwa prednisone agwiritsidwanso ntchito kuchiza kuchepa kwa magazi komwe kumayambitsidwa ndi matenda a Aase. Komabe, iyenera kugwiritsidwa ntchito mutangowunika maubwino ndi zoopsa zake ndi omwe amakupatsirani ma anemia.

Kukula kwa mafupa kungakhale kofunikira ngati mankhwala ena alephera.

Kuchepa kwa magazi kumayamba kukula msinkhu.

Zovuta zokhudzana ndi kuchepa kwa magazi ndi monga:

• Kutopa
• Kuchepetsa mpweya m'magazi
• Kufooka

Mavuto amtima amatha kubweretsa zovuta zosiyanasiyana, kutengera vuto lomwe ali nalo.

Matenda akulu a Aase syndrome adalumikizidwa ndi kubadwa kwa mwana kapena kufa msanga.

Upangiri wa chibadwa umalimbikitsidwa ngati muli ndi banja lomwe lili ndi vutoli ndipo mukufuna kukhala ndi pakati.

Matenda a Aase-Smith; Kuchepa kwa magazi m'thupi - zala zazikulu za thupi, mtundu wa Aase-Smith; Diamond-Blackfan wokhala ndi AS-II

[Adasankhidwa] Clinton C, Gazda HT. Kuchepa kwa magazi a Diamond-Blackfan. Zowonjezera. 2014: 9. PMID: 20301769 www.ncbi.nlm.nih.gov/pubmed/20301769. (Adasankhidwa) Idasinthidwa pa Marichi 7, 2019. Idapezeka pa Julayi 31, 2019.

Gallagher PG. The neonatal erythrocyte ndi zovuta zake. Mu: Orkin SH, Fisher DE, Ginsburg D, Yang'anani AT, Lux SE, Nathan DG, eds. Nathan ndi Oski a Hematology ndi Oncology of Infancy and Childhood. 8th ed. Philadelphia, PA: Elsevier Saunders; 2015: mutu 2.

CD ya Thornburg. Kuchepetsa magazi m'thupi (Daimondi-Blackfan kuchepa kwa magazi). Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 475.