Chakravarti V S, Borns P, Lobell J, Douglas S D
Section of Immunology, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine.
Pediatr Radiol. 1991;21(6):447-8. doi: 10.1007/BF02026688.
Adenosine deaminase (ADA) deficiency may manifest as severe combined immunodeficiency (SCID) in early infancy. Some of these children develop radiologic changes which may be in part related to effects of this enzyme deficiency on the bony epiphysis. We describe the radiologic changes in a neonate with ADA deficiency and their resolution with polyethylene glycol conjugated adenosine deaminase (PEG-ADA, ADAGEN: Enzon, Inc., South Plainfield, NJ) enzyme replacement therapy.
腺苷脱氨酶（ADA）缺乏症在婴儿早期可能表现为严重联合免疫缺陷（SCID）。其中一些儿童会出现放射学改变，这可能部分与该酶缺乏对骨骺的影响有关。我们描述了一名患有ADA缺乏症的新生儿的放射学改变，以及其通过聚乙二醇共轭腺苷脱氨酶（PEG - ADA，商品名ADAGEN：Enzon公司，新泽西州南普莱菲尔德）酶替代疗法后的恢复情况。
