Aase cov tsos mob

Aase syndrome yog ib qho kev mob uas tsis tshua muaj tshwm sim uas ua rau muaj ntshav txhaws thiab qee yam pob txha thiab pob txha deformities.

Feem ntau ntawm Aase syndrome tshwm sim yam tsis paub meej thiab tsis dhau hauv cov tsev neeg (tau txais los). Txawm li cas los xij, qee kis (45%) tau pom tias tau txais kev coj los ua.Cov no yog vim muaj kev hloov pauv hauv 1 ntawm 20 lub noob ib qho tseem ceeb rau kev tsim cov protein kom raug (cov noob ua cov nqaij muaj protein).

Tus mob no zoo ib yam li Diamond-Blackfan anemia, thiab ob qhov xwm txheej yuav tsum tsis txhob cais tawm. Ib qho ploj lawm ntawm cov chromosome 19 pom nyob hauv qee cov neeg uas muaj Pob Zeb Diamond-Blackfan kuaj ntshav tsis txaus.

Kev mob ntshav hauv Aase syndrome tshwm sim los ntawm kev txhim kho tsis zoo ntawm cov pob txha pob txha, uas yog cov ntshav tsim.

Cov tsos mob tuaj yeem suav nrog:

• Qaug lossis me me hauv caug
• Ciaj xim ntawm lub palate
• Xuas pob ntseg
• Droopy tawv muag
• Ua tsis tau rau tag nrho cov pob qij txha txij thaum yug los
• Nqaim xub pwg
• Tawv nqaij daj
• Peb ceg-ntiv tes xoo

Tus kws kho mob yuav kuaj xyuas lub cev. Kev ntsuam xyuas uas yuav ua tau muaj xws li:

• Nqaij pob txha caj dab
• Ua kom tiav cov ntshav suav (CBC)
• Echocardiogram
• Kev xoo hluav taws xob

Txoj kev kho mob yuav suav nrog tso ntshav ntxiv rau thawj xyoo ntawm lub neej los kho ntshav liab.

Cov tshuaj steroid hu ua prednisone kuj tseem tau siv los kho ntshav liab txuam nrog Aase syndrome. Txawm li cas los xij, nws tsuas yog siv tom qab tshuaj xyuas qhov zoo thiab txaus ntshai nrog tus kws kho mob uas tau ua haujlwm kho qhov mob tsis nco qab.

Kev hloov hlwb pob txha yuav tsim nyog yog tias lwm qhov kev kho tsis ua tiav.

Qhov ua kom mob ntshav txhag zoo tuaj nrog hnub nyoog.

Cov teeb meem ntsig txog kev mob ntshav tsis txaus yog:

• Nkees
• Txo cov pa oxygen hauv cov ntshav
• Neeg tsis muaj zog

Cov teeb meem hauv lub plawv tuaj yeem ua rau ntau qhov kev tshwm sim, nyob ntawm cov teeb meem tshwj xeeb.

Cov mob hnyav ntawm Aase syndrome tau cuam tshuam nrog kev tuag tseem lossis thaum ntxov tuag.

Kev tawm tswv yim rau caj ces yog pom zoo yog tias koj muaj tsev neeg muaj keeb kwm ntawm tus mob no thiab xav cev xeeb tub.

Aase-Smith cov tsos mob; Cov Hypoplastic anemia - triphalangeal ntiv tes xoo, hom Aase-Smith; Pob zeb Diamond-Blackfan nrog AS-II

Clinton C, Gazda HT. Pob zeb diamond-Blackfan anemia. GeneReviewsCov. Xyoo 2014: 9. PMID: 20301769 www.ncbi.nlm.nih.gov/pubmed/20301769. Hloov kho Lub Peb Hlis 7, 2019. Nkag mus Lub Xya Hli 31, 2019.

Gallagher PG. Neonatal erythrocyte thiab nws cov kev ntshawv siab. Hauv: Orkin SH, Fisher DE, Ginsburg D, Saib AT, Lux SE, Nathan DG, eds. Nathan thiab Oski's Hematology thiab Oncology ntawm Menyuam Mos thiab Menyuam MosCov. 8 tus ed. Philadelphia, PA: Elsevier Saunders; 2015: chap 2.

Thornburg CD. Congenital hypoplastic anemia (Pob Zeb Diamond-Blackfan anemia). Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: cha 475.