中国5家系类脂蛋白沉积症临床和遗传特点分析

目的：了解中国人群中类脂蛋白沉积症(LP)的临床表型和遗传学特点。方法：描述了我院确诊的一LP家系中患者的临床表型和遗传特点，并综合20多年来国内文献报道的LP家系进行比较分析。结果：(1)LP在家系中的传递符合常染色体隐性遗传方式；(2)表型特点为患者多在2岁内发病，声音嘶哑、眼睑串珠状半透明丘疹，在每个患者均出现；一些少见的表现，如颅内钙化灶仅在家系1中出现，复发性腮腺炎或扁桃体炎仅在家系1和家系5中出现；6例患者健康状况不受该病影响，家系1中的先证者在18岁时曾出现呼吸困难；(3)多不伴发其他遗传病和系统疾病；(4)患者临床表现有一定程度的相似性，但严重程度有很大差异，既使在同一家系中也如此。结论：LP是一种罕见的常染色体隐性遗传病，中国人群中其致病基因的突变频率很低；LP临床表型相似，但不同患者表现度存在较大差异。

Clinical and genetic characters of lipoid proteinosis in five Chinese families

Objective: To explore the clinical and genetic features of lipoid proteinosis (LP) in Chinese population. Methods: To analyze the clinical and genetic features of a confirmed LP family found in this institute and to analyze other four LP families reported in the Chinese literature. Results: The inheritance pattern of LP was autosomal recessive .The onset of the disease generally started within two years old. The typical clinical features, such as hoarseness and pearly papules on the eyelid margins were found in all families. Some clinical features, such as intracranial calcification, recurrent parotitis or tonsillitis were only found in one or two families. The general health condition was not affected. Few patients presented with other hereditary or systemic disease. The phenotype was similar to a certain extent, but varied in very different severity, though patients came from the same family. Conclusion:LP is an autosomal recessive disease, and the mutation of pathogenic gene of LP is rare in Chinese people. The clinical features of patients are similar, but the severity is different, even in the same family.