VARIABLE CLINICAL SEVERITY OF HEREDITARY SPHEROCYTOSIS - RELATION TO ERYTHROCYTIC SPECTRIN CONCENTRATION, OSMOTIC FRAGILITY, AND AUTOHEMOLYSIS
VARIABLE CLINICAL SEVERITY OF HEREDITARY SPHEROCYTOSIS - RELATION TO ERYTHROCYTIC SPECTRIN CONCENTRATION, OSMOTIC FRAGILITY, AND AUTOHEMOLYSIS
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DOI：
10.1016/s0022-3476(05)81081-9
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发表时间：
1990-09-01
影响因子：
5.1
通讯作者：
SCHROTER, W
中科院分区：
文献类型：
--
作者：
EBER, SW;ARMBRUST, R;SCHROTER, W
为了确定根据严重程度对球形红细胞增多症进行分层是否可以为哪些患者可以从脾切除术中获益提供指导，我们评估了80例患者的临床特征（63例儿童）和27例健康亲属，除常规血液学测定外，还测定了渗透脆性、自身溶血、红细胞血影蛋白含量，测定红细胞膜脂磷，并与病情严重程度进行相关分析。确定了四个类别：球形红细胞增多症作为一种特征出现在患有遗传性疾病的患者的无血小板亲属中;轻度和中度球形红细胞增多症，主要见于患有显性遗传性疾病的患者中;以及重度球形红细胞增多症，仅见于两名患者中，其特征为隐性遗传和输血依赖。通过对携带者的鉴定，20%的球形红细胞增多症家系表现为隐性遗传。红细胞收缩蛋白浓度在携带者和轻度球形红细胞增多症患者中正常，在中度和重度疾病状态下显著降低。这种差异不是由细胞膜面积减少引起的，如通过每个细胞的磷脂浓度测量的。我们的结论是，轻度球形红细胞增多症的患者通常不需要在儿童和青少年脾切除术，中度或重度疾病的患者应该有脾切除术。严重球形红细胞增多症的患者对脾切除术有部分反应，但仍有相当程度的溶血增加。大多数血影蛋白含量低于正常值80%的患者需要脾切除术。
To determine whether stratifying herditary spherocytosis by degree of severity could provide guidelines regarding which patients would benefit from splenectomy, we evaluated the clinical characteristics of 80 patients (63 children) and 27 healthy relatives, In addition to routine hematologic determinations, osmotic fragility, autohemolysis, erythrocyte spectrin content, and erythrocyte membrane lipid phosphorus were measured and correlated with the disease severity. Four categories were identified: spherocytosis as a trait in symptom-free relatives of patients with recessively inherited disease; mild and moderate spherocytosis, largely observed in patients with dominantly inherited disease; and severe spherocytosis, observed in only two patients, who were characterized by recessive inheritance and transfusion dependence. By the identification of carriers, a recessive mode of inheritance could be demonstrated in 20% of the family with spherocytosis. The erythrocyte spectrin concentration was normal in carriers and patients with mild spherocytosis, and was significantly reduced in the moderate and severe states of the disease. This difference was not accounted for by reduced membrane area of the cells, as measured by the phospholipid concentration per cell. We conclude that patients with mild spherocytosis usually do not require splenectomy during childhood and adolescence; patients with moderate or severe disease should have splenectomy. Patients with severe spherocytosis have a partial response to splenectomy but a considerable degree of increased hemolysis persists. Most patients with less than 80% of normal spectrin content require splenectomy.