Clinical Characteristics of Perinatal Lethal Hypophosphatasia: A Report of 6 Cases

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  • Nakamura-Utsunomiya Akari
    Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences
  • Okada Satoshi
    Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences
  • Hara Keiichi
    Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences
  • Miyagawa Shinichiro
    Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences
  • Takeda Kanae
    Department of Pediatrics, Kure Mutual Hospital
  • Fukuhara Rie
    Department of Neonatology, Hiroshima Prefectual Hospital
  • Nakata Yusei
    Department of Neonatology, Hiroshima City Hospital
  • Hayashidani Michiko
    Department of Neonatology, Hiroshima City Hospital
  • Tachikawa Kanako
    Department of Bone and Mineral Research, Osaka Medical Centre and Research Institute for Maternal and Child Health
  • Michigami Toshimi
    Department of Bone and Mineral Research, Osaka Medical Centre and Research Institute for Maternal and Child Health
  • Ozono Keiichi
    Department of Pediatrics, Osaka University Graduate School of Medicine
  • Kobayashi Masao
    Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences

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Abstract

Hypophosphatasia is a rare inherited disorder caused by deficient tissue-nonspecific alkaline phosphatase activity. It is classified into 6 subtypes, and the perinatal lethal form of hypophosphatasia is the most severe. Patients with this form suffer from various symptoms, including respiratory failure, premature craniosynostosis, rachitic changes in the metaphyses, convulsions and hypercalcemia. This report presents 6 cases of the perinatal lethal form of hypophosphatasia. All of the patients showed shortening of the long bones in utero in ultrasonographic examinations. Two of the six patients died at birth because they could not establish spontaneous breathing. Three of the remaining four patients also died before 1 yr of age. The major cause of death was respiratory failure due to hypoplastic lung. All of the patients, except for the two who died at birth, experienced convulsions in their clinical courses. Vitamin B6 therapy effectively reduced the frequency and severity of convulsions. However, it could not always make the patients convulsion free. Three patients underwent a genetic analysis. The 1559delT mutation, which abolishes Alkaline Phosphatase (ALP) activity, was a hot spot. A homozygous 1559delT mutation was observed in two patients. However, they differed in severity of symptoms. Although a good genotype-phenotype correlation has been reported in hypophosphatasia, the genotype alone does not always predict the life span of the patients. These cases therefore suggested the importance of genetic counseling.<br>

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