Anderson C E, Finklestein J Z, Nussbaum E, Larson E J, Halpern R, Uitto J, Tanaka K R
J Pediatr. 1984 Aug;105(2):247-51. doi: 10.1016/s0022-3476(84)80121-3.
Three of four siblings born to nonconsanguineous parents of Italian origin were affected with severe congenital hemolytic anemia of unknown cause, and early-onset pulmonary emphysema. Two of the three affected siblings died of septic shock after splenectomy, at the ages of 7 and 3 1/2 years, respectively. The remaining affected sibling was shown to have cutis laxa and severe pulmonary emphysema at 15 years of age. Assay of serum components indicated that alpha 1-antitrypsin and alpha 2-macroglobulin levels were normal or slightly elevated. However, there was markedly elevated activity of an elastase-like serum enzyme. The relation of the hemolytic anemia to the pulmonary findings in this family is not clear; pedigree analysis suggests a recessively inherited defect.
一对意大利裔非近亲父母所生的四个孩子中有三个患有病因不明的严重先天性溶血性贫血和早发性肺气肿。三个患病孩子中有两个在脾切除术后分别于7岁和3岁半时死于感染性休克。剩下的患病孩子在15岁时被发现患有皮肤松弛症和严重的肺气肿。血清成分检测表明，α1抗胰蛋白酶和α2巨球蛋白水平正常或略有升高。然而，一种类弹性蛋白酶血清酶的活性明显升高。这个家族中溶血性贫血与肺部表现之间的关系尚不清楚；系谱分析提示为隐性遗传缺陷。
