Gennero I, Conte-Auriol F, Salles J-P
Service de biochimie, institut fédératíf de biologie, hôpítal Purpan, CHU de Toulouse, 31059 Toulouse Cedex 09, France; Centre de physiopathologie de Toulouse-Purpan, CPTP, INSERM UMR 1043, université de Toulouse-Paul-Sabatier, 31059 Toulouse, France.
Centre de physiopathologie de Toulouse-Purpan, CPTP, INSERM UMR 1043, université de Toulouse-Paul-Sabatier, 31059 Toulouse, France; Centre d'investigation pédiatrique, INSERM CIC 1436, CHU de Toulouse, 31059 Toulouse Cedex 09, France.
Arch Pediatr. 2017 May;24(5S2):5S57-5S60. doi: 10.1016/S0929-693X(18)30015-0.
The laboratory diagnosis of hypophosphatasia (HPP) is primarily based on the precise analysis of circulating serum alkaline phosphatase (ALP) activity, determined by biochemical assays. This analysis requires specific conditions of implementation and interpretation and should always be viewed in the light of the clinical and radiological data. Concerns regarding the normal ranges of ALP with respect to age, regarding ALP values that may overlap those of normal subjects in HPP patients, regarding apparently normal ALP values in cases of proven HPP, regarding differential diagnoses that may be responsible for low ALP values outside of HPP will be discussed. High levels of pyridoxal phosphate, a substrate of APL, are of supportive value in the diagnosis of HPP.
低磷性骨软化症（HPP）的实验室诊断主要基于通过生化检测对循环血清碱性磷酸酶（ALP）活性进行的精确分析。这种分析需要特定的实施和解读条件，并且应始终结合临床和放射学数据来看待。将讨论关于ALP正常范围与年龄的关系、HPP患者中可能与正常受试者重叠的ALP值、已证实的HPP病例中看似正常的ALP值，以及可能导致HPP以外低ALP值的鉴别诊断等问题。高水平的磷酸吡哆醛（APL的一种底物）在HPP的诊断中具有辅助价值。
