I-Aase syndrome

I-Aase syndrome yisifo esingajwayelekile esifaka i-anemia kanye nokukhubazeka okuthile okuhlangene nokwamathambo.

Izimo eziningi ze-Aase syndrome zenzeka ngaphandle kwesizathu esaziwayo futhi azidluliswa ngemindeni (ezuzwe njengefa). Kodwa-ke, amanye amacala (45%) akhonjisiwe ukuthi atholwe njengefa.Lokhu kungenxa yokuguqulwa kofuzo olungu-1 kwangu-20 olubalulekile ekwenzeni amaprotheni kahle (izakhi zofuzo zenza amaprotheni e-ribosomal).

Lesi simo sifana ne-Diamond-Blackfan anemia, futhi le mibandela emibili akufanele ihlukaniswe. Ucezu olulahlekile ku-chromosome 19 lutholakala kwabanye abantu abane-anemia ye-Diamond-Blackfan.

I-anemia ku-Aase syndrome ibangelwa ukungakhuli kahle komnkantsha wamathambo, okuyilapho kwakheka khona amaseli egazi.

Izimpawu zingafaka:

• Ama-knuckles angekho noma amancane
• Ulwanga oluhlanzekile
• Izindlebe ezikhubazekile
• Izinkophe zedroopy
• Ukwehluleka ukunweba ngokugcwele amalunga kusukela ekuzalweni
• Amahlombe amancane
• Isikhumba esiphaphathekile
• Izithupha ezihlanganiswe kathathu

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba. Ukuhlolwa okungenziwa kufaka phakathi:

• I-bone marrow biopsy
• Qedela ukubalwa kwegazi (CBC)
• I-Echocardiogram
• Ama-X-ray

Ukwelashwa kungafaka ukumpontshelwa igazi onyakeni wokuqala wokuphila ukwelapha i-anemia.

Umuthi we-steroid obizwa nge-prednisone nawo usetshenzisiwe ukwelapha i-anemia ehambisana ne-Aase syndrome. Kodwa-ke, kufanele isetshenziswe kuphela ngemuva kokubuyekeza izinzuzo nobungozi nomhlinzeki onolwazi lokwelapha ama-anemias.

Ukufakelwa komnkantsha wethambo kungadingeka uma okunye ukwelashwa kwehluleka.

I-anemia ivame ukuthuthuka ngokukhula.

Izinkinga ezihlobene ne-anemia zifaka:

• Ukukhathala
• Ukwehla komoya-mpilo egazini
• Ubuthakathaka

Izinkinga zenhliziyo zingaholela ezinkingeni ezahlukahlukene, ngokuya ngesici esithile.

Amacala abucayi e-Aase syndrome ahlotshaniswa nokuzala ingane noma ukufa ngaphambi kwesikhathi.

Ukwelulekwa ngofuzo kuyanconywa uma unomlando womndeni walesi sifo futhi ufisa ukukhulelwa.

Isifo se-Aase-Smith; I-Hypoplastic anemia - izithupha ezi-triphalangeal, uhlobo lwe-Aase-Smith; IDayimane-Blackfan ene-AS-II

UClinton C, uGazda HT. I-anemia ye-Diamond-Blackfan. Ukubuyekezwa kweGeneReviews. 2014: 9. I-PMID: 20301769 www.ncbi.nlm.nih.gov/pubmed/20301769. Kubuyekezwe ngoMashi 7, 2019. Kufinyelelwe ngoJulayi 31, 2019.

IGallagher PG. I-erythrocyte ye-neonatal kanye nokuphazamiseka kwayo. Ku: Orkin SH, Fisher DE, Ginsburg D, Bheka AT, Lux SE, Nathan DG, eds. I-Hematology ne-Oncology kaNathan no-Oski ye-Infancy ne-Childhood. Umhlaka 8. IPhiladelphia, PA: Elsevier Saunders; 2015: isahluko 2.

CD yaseThornburg. I-anemia yokuzalwa ngokwe-hypoplastic (i-Diamond-Blackfan anemia). Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 475.