Rosalki S B, Foo A Y, Dooley J S
Department of Chemical Pathology and Human Metabolism, Royal Free Hospital and School of Medicine, London.
J Clin Pathol. 1993 Aug;46(8):738-41. doi: 10.1136/jcp.46.8.738.
To consider a possible genetic origin for the persistent unexplained increase in plasma alkaline phosphatase (ALP) in five non-related patients referred over an 18 month period.
Plasma ALP isoenzyme activities were measured in patients and their first degree relatives.
In each patient there was a noticeable increase in intestinal plasma ALP, either alone or accompanied by an increase in bone or liver ALP. Family studies showed an unexpected increase in plasma ALP and similar isoenzyme changes in first degree relatives. The findings were consistent with autosomal dominant inheritance.
Inherited raised plasma ALP activity is a reasonably common cause of persistent unexplained hyperphosphatasaemia which deserves wider recognition.
探讨18个月期间转诊的5例无血缘关系患者血浆碱性磷酸酶（ALP）持续不明原因升高的可能遗传起源。
测定患者及其一级亲属的血浆ALP同工酶活性。
每位患者的肠道血浆ALP均有明显升高，或单独升高，或伴有骨或肝ALP升高。家族研究显示一级亲属的血浆ALP意外升高且同工酶变化相似。这些发现与常染色体显性遗传一致。
遗传性血浆ALP活性升高是持续性不明原因高磷酸酶血症的一个相当常见的原因，值得更广泛的认识。
