Perinatal Hypophosphatasia in a Premature Infant.
Perinatal Hypophosphatasia in a Premature Infant.
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早产儿围产期低磷酸酯酶症。
DOI：
10.1055/s-0040-1709512
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发表时间：
2020
期刊：
影响因子：
0.9
通讯作者：
Rawat,Munmun
中科院分区：
文献类型：
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作者：
Sankaran,Deepika;Chandrasekharan,PraveenK;Rawat,Munmun
由于早产后进行 2 类胎儿追踪，一名早产男婴在妊娠 32 周时分娩。体检显示长骨缩短且弯曲，头部小区域有颅骨感觉。入院时血清碱性磷酸酶非常低。骨骼检查（射线照相）发现广泛的干骺端异常、长骨弯曲和所有骨骼骨化不良。根据 26 周时弯曲和长骨骨折的超声证据，进行了羊膜穿刺术，随后通过基因检测诊断出低磷酸酯酶症，同时排除了成骨不全症。尽管最初进行了通气，但婴儿通过酶替代疗法 (ERT) 逐渐改善，并拔管至无创通气 6 周。 4 个月大时，由于败血症继发缺氧性呼吸衰竭，临床状况恶化，他死于严重肺动脉高压，可能继发于慢性肺病和长时间通气。早期诊断可以及时开始适当的治疗。该疗法的放射学改善在这种罕见疾病中显示出有希望的结果。尽管有特定的新疗法可用，但表现的可变性决定了这种以前普遍致命的疾病的预后。 ERT 对肺血管重塑的潜在未知影响需要进一步研究。
A premature male infant was delivered at 32 weeks gestation due to category-2 fetal tracing after preterm labor. The physical exam showed shortened and bowed long bones, with calvarium felt in small area of the head. Serum alkaline phosphatase was very low on admission. Extensive metaphyseal abnormalities, bowing of long bones, and poor ossification of all bones were noted on skeletal survey (radiography). Based on ultrasound evidence of bowing and long bone fractures at 26 weeks, amniocentesis was performed that later diagnosed hypophosphatasia by genetic testing while ruling out osteogenesis imperfecta. Although ventilated initially, the infant gradually improved with enzyme replacement therapy (ERT) and was extubated to noninvasive ventilation for 6 weeks. Following clinical deterioration with hypoxic respiratory failure secondary to sepsis at 4 months of age, he succumbed to severe pulmonary hypertension, likely secondary to chronic lung disease and prolonged ventilation. Early diagnosis allowed timely initiation of appropriate therapy. Radiological improvement with the therapy showed promising results in this rare disease. Despite specific novel therapy being available, variability in presentation dictates prognosis in this previously universally fatal condition. The potential unknown effects of ERT on pulmonary vascular remodeling need further investigation.