新生儿磷酸酶过少症

Neonatal hypophosphatasia

摘要:

低磷酸酯酶症是一种少见的先天性代谢疾病。该文对其发病机制、分型及临床表现、鉴别诊断、治疗和预后进行了综述，并介绍了在该院诊断明确的1例新生儿型的罕见病例，患儿为出生30 min女婴，产前B超提示胎儿双顶径与四肢长骨不成比例，生后即有明显的颅骨软化、呼吸困难和紫绀等表现，血碱性磷酸酶（ALP）显著低下，X线表现及尸检结果均提示骨骼矿化极度低下，4 d后因呼吸衰竭死亡。

Abstract:

Hypophosphatasia is a rare inborn disease of metabolism. This paper reviewed its pathogenesis, forms, clinical manifestations, differential diagnosis, treatment and prognosis. Here a case of neonatal hypophosphatasia is reported. This baby was female (30 minutes old). Prenatal ultrasound showed disproportionate biparietal diameter and long bones of limbs in the baby. After birth, she presented with obvious craniomalacia, respiratory distress and cyanosis. Serum alkaline phosphatase level was significantly reduced. Both X-ray and autopsy showed extremely insufficient skeletal mineralization. Four days later she died of respiratory failure.