Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth

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• 作者：Yoko Okazaki ; Hiroyuki Kitajima ; Narutaka Mochizuki…
• 关键词：Hypophosphatasia ; Enzyme replacement therapy ; Pulmonary hypoplasia ; Tissue nonspecific alkaline phosphatase
• 刊名：European Journal of Pediatrics
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：175
• 期：3
• 页码：433-437
• 全文大小：742 KB
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• 作者单位：Yoko Okazaki (1)
  Hiroyuki Kitajima (1)
  Narutaka Mochizuki (1)
  Taichi Kitaoka (4)
  Toshimi Michigami (2) (3)
  Keiichi Ozono (4)
  
  1. Department of Neonatal Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, Osaka, Japan
  4. Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamada-oka, Suita, Osaka, Japan
  2. Department of Bone and Mineral Research, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, Osaka, Japan
  3. Department of Pediatric Nephrology and Metabolism, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, Osaka, Japan
  
• 刊物主题：Pediatrics;
• 出版者：Springer Berlin Heidelberg
• ISSN：1432-1076

文摘

Hypophosphatasia (HPP) is a rare metabolic bone disease caused by loss-of-function mutations in the gene ALPL encoding the tissue nonspecific alkaline phosphatase (TNSALP). There is a broad range of severity in the phenotype of HPP, and the most severe form exhibits perinatal lethality without mineralization of the skeleton. Here, we describe a female infant with perinatal lethal HPP diagnosed in utero. She was treated with a recombinant ALP (asfotase alfa) as an enzyme replacement therapy (ERT), which started from 1 day after birth. She required invasive ventilation immediately upon birth and demonstrated severe hypomineralization of whole body bone. Severe respiratory insufficiency was controlled by intensive respiratory care with high-frequency oscillation ventilation and nitric oxide inhalation and deep sedation just after birth. Bone mineralization improved with treatment; improvements were visible by 3 weeks of age and continued with treatment. Serum calcium levels decreased following treatment, resulting in hypocalcemia and convulsion, and calcium supplementation was required until 3 months of treatment. She was weaned from mechanical ventilation and has now survived more than 1 year.