围产期致死型低磷酸酯酶症X线表现1例并文献复习

One case of perinatal lethal hypophosphatasia with X-ray manifestations and literature review

低磷酸酯酶症(HPP)是一种罕见的常染色体遗传疾病,是由碱性磷酸酯酶基因(ALPL)突变引起的系统性疾病,以骨/软骨刺突起为典型临床表现。本病发病率低,致死率高,易误诊及漏诊,但骨骼系统X线表现具有一定特征性,可帮助早期诊断。本文对1例确诊围产期致死型HPP骨骼X线表现进行报道。

Hypophosphatasia (HPP) is a rare autosomal genetic disease. It is a systemic disease caused by a mutation in the alkaline phosphatase gene (ALPL), with bone/cartilage spines as the typical clinical manifestation. The incidence of this disease is low, the fatality rate is high, and it is easy to be misdiagnosed and missed diagnosis. However, the X-ray manifestations of skeletal system have certain characteristics, which can help early diagnosis. This article reports a case about X-ray manifestations of skeleton of perinatal lethal HPP.