ACF Lam, CW Lam, MHY Tang, JWY Chu, STS Lam

Abstract

Hypophosphatasia is a rare inborn error of metabolism. The disease is characterised by skeletal mineralisation and dentition defects. Mutations have been found in the TNSALP gene in various forms of hypophosphatasia. We report the first Chinese case of perinatal lethal form of hypophosphatasia due to previously reported pathogenic compound heterozygous mutation in the TNSALP gene; and successfully applied clinically in prenatal diagnostic testing. The authors emphasised the importance of accurate diagnosis of fetal presentation of skeletal dysplasia for genetic counselling, and discussed its differential diagnoses.

低磷酸酯酶症是一種少見的先天性代謝疾患。表現為骨組織礦化障礙和牙齒發育缺陷。在很多類型的低磷酸酯酶症患者中存在 TNSALP 基因突變。報導首例圍生期致死性低磷酸酯酶症患者，其病因是存在曾經報導過的 TNSALP 基因致病性複合雜合突變；並成功進行臨床產前診斷。本文強調了基因檢測對於有骨骼發育不良的嬰兒進行準確診斷的重要性，並討論了疾病的鑒別診斷。