Mäkitie O, Rajantie J, Kaitila I
Department of Medical Genetics, Helsinki University Hospital, Finland.
Acta Paediatr. 1992 Dec;81(12):1026-9. doi: 10.1111/j.1651-2227.1992.tb12168.x.
Cartilage-hair hypoplasia is an autosomal recessive osteo-chondrodysplasia which results in short stature, sparse hair and impaired cell-mediated immunity. In a study of 88 Finnish patients we found episodes of anaemia and/or macrocytosis during childhood in 86% of the patients. The reticulocyte index was always low in relation to anaemia. Bone marrow examination revealed decreased erythropoiesis in six of eight anaemic patients studied. Anaemia was most prevalent and severe during infancy. Spontaneous recovery occurred before adulthood in all patients except in three infants with fatal hypoplastic anaemia. Sixty-two percent of the patients had had lymphopenia and 24% neutropenia. Presence of anaemia significantly correlated to severity of immunodeficiency and growth failure and to presence of neutropenia. Disordered erythrogenesis is an integral feature of cartilage-hair hypoplasia and may, together with growth failure and immunodeficiency, reflect a generalized defect in cellular proliferation.
软骨毛发发育不全是一种常染色体隐性骨软骨发育不良疾病，会导致身材矮小、毛发稀疏以及细胞介导免疫受损。在一项针对88名芬兰患者的研究中，我们发现86%的患者在儿童期出现过贫血和/或大细胞症。相对于贫血而言，网织红细胞指数始终较低。对8名贫血患者进行的骨髓检查显示，其中6人的红细胞生成减少。贫血在婴儿期最为普遍且严重。除3名患有致命性再生障碍性贫血的婴儿外，所有患者在成年前均自发康复。62%的患者曾出现淋巴细胞减少，24%的患者出现中性粒细胞减少。贫血的存在与免疫缺陷和生长发育迟缓的严重程度以及中性粒细胞减少的存在显著相关。红细胞生成紊乱是软骨毛发发育不全的一个固有特征，并且可能与生长发育迟缓和免疫缺陷一起，反映出细胞增殖的普遍缺陷。
