Isifo seAase

Isifo i-Aase syndrome sisifo esinqabileyo esibandakanya i-anemia kunye nokukhubazeka okuthile ngokudibeneyo namathambo.

Iimeko ezininzi ze-Aase syndrome zenzeka ngaphandle kwesizathu esaziwayo kwaye azidluliswanga kwiintsapho (ezizuzwe njengelifa). Nangona kunjalo, ezinye iimeko (iipesenti ezingama-45) zibonisiwe njengelifa.Oku kungenxa yotshintsho kwi-1 yama-20 yemfuza ebalulekileyo ekwenzeni iprotheni ngokuchanekileyo (iijini zenza iiprotein ze-ribosomal).

Le meko iyafana ne-Diamond-Blackfan anemia, kwaye iimeko ezimbini akufuneki zahlulwe. Isiqwenga esilahlekileyo kwi-chromosome 19 sifumaneka kwabanye abantu abane-anemia ye-Diamond-Blackfan.

I-anemia kwi-Aase syndrome ibangelwa kukungakhuli kakuhle komongo wethambo, kulapho kwenziwa khona iiseli zegazi.

Iimpawu zingabandakanya:

• Amabhanti angekhoyo okanye amancinci
• Inkalakahla ecwengileyo
• Iindlebe eziziphene
• Iinkophe zedroopy
• Ukungakwazi ukwandisa ngokupheleleyo amalungu ukusuka ekuzalweni
• Amagxa amxinwa
• Ulusu oluthuthu
• Izithupha ezidityaniswe kathathu

Umboneleli wezempilo uya kwenza uvavanyo lomzimba. Uvavanyo olunokwenziwa lunokubandakanya:

• Umongo wethambo
• Gcwalisa ubalo lwegazi (CBC)
• Echocardiogram
• X-reyi

Unyango lunokubandakanya utofelo-gazi kunyaka wokuqala wobomi ukunyanga i-anemia.

Iyeza le-steroid elibizwa ngokuba yi-prednisone likwasetyenziselwe ukunyanga i-anemia enxulumene ne-Aase syndrome. Nangona kunjalo, kufuneka isetyenziswe kuphela emva kokuphonononga izibonelelo kunye nomngcipheko kunye nomboneleli onamava okunyanga ii-anemias.

Ukufakelwa komongo wethambo kunokuba yimfuneko ukuba olunye unyango lusilele.

I-anemia ithambekele ekuphuculeni kunye nobudala.

Iingxaki ezinxulumene ne-anemia zibandakanya:

• Ukudinwa
• Ukunciphisa ioksijini egazini
• Ubuthathaka

Iingxaki zentliziyo zingakhokelela kubunzima obahlukeneyo, kuxhomekeke kwisiphene esithile.

Iimeko ezinzima ze-Aase syndrome zinxulunyaniswa nokuzalwa komntwana oswelekileyo okanye ukufa kwangaphambi kwexesha.

Ukucebisa ngemfuza kuyacetyiswa ukuba unembali yosapho yesi sifo kwaye unqwenela ukukhulelwa.

Isifo sika-Aase-Smith; I-Hypoplastic anemia - oobhontsi be-triphalangeal, uhlobo lwe-Aase-Smith; IDayimane-Blackfan ene-AS-II

UClinton C, uGazda HT. I-anemia yedayimani emnyama. Uphononongo lweGene. Ngo-2014: 9. IINKCUKACHA: 20301769 www.ncbi.nlm.nih.gov/pubmed/20301769. Ukuhlaziywa kwe-Matshi 7, 2019. Ifikeleleke ngoJulayi 31, 2019.

IGallagher PG. I-erythrocyte ye-neonatal kunye nokuphazamiseka kwayo. Ku: Orkin SH, Fisher DE, Ginsburg D, Jonga AT, Lux SE, Nathan DG, eds. UNathan kunye no-Oski's Hematology kunye ne-Oncology yoBusana kunye noBuntwana. Ngomhla we-8. IPhiladelphia, PA: Elsevier Saunders; 2015: isahluko 2.

CD yaseThornburg. I-anemia ye-hypoplastic anemia (yeDiamond-Blackfan anemia). Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahl. 475.