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Hypophosphatasia

  • Takeshi TaketaniEmail author
  • Chigusa Oyama
  • Yasuaki Oda
  • Lynne Murphy
Chapter

Abstract

During the patient’s fetal phase, hydramnios was present, and bone abnormality was detected. The male infant was born transvaginally at the gestational age of 41 weeks and 2 days. Respiratory impairment became worse soon after birth; therefore, mechanical ventilation was performed. Low titers of serum alkaline phosphatase (ALP) (9 IU/L; reference range, 530–1610 IU/L) and bone ALP (BAP) (0 μg/L; reference range, 3.7–20.4 μg/L) were found, and urinary phosphoethanolamine (PEA) (1195 μmol/L; normal range is non-detectable), one substrate of ALP, was detected. Hypomineralization, thin and short forearm bone, fluttering in the metaphyseal regions, and narrow thorax were revealed by X-ray (Fig. 9.1a, b). These indicated that the patient had developed perinatal lethal hypophosphatasia (HPP). Refractory convulsion developed 5 days after birth, which ceased with the administration of pyridoxine. Tracheobronchomalacia frequently appeared from 6 months after birth. To perform definite diagnosis, we extracted DNA from white blood cells and examined the gene analysis of the liver/bone/kidney alkaline phosphatase (ALPL) gene, the causative gene of HPP. As a result, the patient harbored a homozygous mutation in c.1559delT of the ALPL gene (Fig. 9.2) (Taketani T et al. 2015).

Keywords

Hypophosphatasia Mesenchymal stem cell Bone-targeting enzyme replacement therapy Congenital skeletal disease 

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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  • Takeshi Taketani
    • 1
    Email author
  • Chigusa Oyama
    • 1
  • Yasuaki Oda
    • 1
  • Lynne Murphy
    • 2
  1. 1.Faculty of Medicine, Department of PediatricsShimane UniversityIzumoJapan
  2. 2.Faculty of Medicine, Department of Medical English EducationShimane UniversityIzumoJapan

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