A case of perinatal hypophosphatasia with a novel mutation in the ALPL gene: Clinical course and review of the literature

Maki Oyachi, Daisuke Harada, Natsuko Sakamoto, Kaoru Ueyama, Kawai Kondo, Kanako Kishimoto, Masafumi Izui, Yuiko Nagamatsu, Hiroko Kashiwagi, Miho Yamamuro, Makoto Tamura, Shin Kikuchi, Tomoyuki Akiyama, Toshimi Michigami, Yoshiki Seino, Noriyuki Namba

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Abstract

Hypophosphatasia (HPP) is a metabolic bone disease characterized by failure of bone calcification and vitamin B6 dependent seizures. It is caused by loss-of-function mutations in the ALPL gene. A newborn girl required respiratory support by nasal-directional positive airway pressure at birth, and pyridoxine hydrochloride administration for vitamin B6-dependent seizures observed from day two. Umbilical cord blood showed low alkaline phosphatase (ALP) activity and high pyridoxal phosphate levels. Radiographs showed severe rickets-like appearance of the bones. Genetic analysis of the ALPL gene revealed compound heterozygous mutations, c.1559delT/p.Ser188Pro. We diagnosed her with perinatal severe HPP, and started the patient on asfotase alfa from day six. Following enzyme replacement therapy (ERT), skeletal mineralization and respiratory insufficiency improved with no remarkable side-effects. Crying vital capacity (CVC) was used to evaluate respiratory status, which continuously improved from 13.3 mL/kg (day 22) to 20.6 mL/kg (day 113). Since no seizures occurred, pyridoxine hydrochloride was tapered off at one year of age. Strategies to manage perinatal severe HPP cases following ERT have not been established till date. A review of the literature shows that CVC may be a good indicator for weaning from ventilatory support. In addition, ERT will most likely enable withdrawal of pyridoxine treatment.

LanguageEnglish
Pages179-186
Number of pages8
Journalclinical pediatric endocrinology
Volume27
Issue number3
DOIs
Publication statusPublished - Jan 1 2018

Fingerprint

Hypophosphatasia
Enzyme Replacement Therapy
Pyridoxine
Crying
Vital Capacity
Mutation
Genes
Bone and Bones
Rickets
Pyridoxal Phosphate
Metabolic Bone Diseases
Weaning
Fetal Blood
Nose
Respiratory Insufficiency
Alkaline Phosphatase
Seizures
Parturition
Newborn Infant
Pressure

Keywords

  • ALPL
  • Asfotase alfa
  • Crying vital capacity
  • Pyridoxal phosphate
  • Pyridoxine hydrochloride

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

A case of perinatal hypophosphatasia with a novel mutation in the ALPL gene : Clinical course and review of the literature. / Oyachi, Maki; Harada, Daisuke; Sakamoto, Natsuko; Ueyama, Kaoru; Kondo, Kawai; Kishimoto, Kanako; Izui, Masafumi; Nagamatsu, Yuiko; Kashiwagi, Hiroko; Yamamuro, Miho; Tamura, Makoto; Kikuchi, Shin; Akiyama, Tomoyuki; Michigami, Toshimi; Seino, Yoshiki; Namba, Noriyuki.

In: clinical pediatric endocrinology, Vol. 27, No. 3, 01.01.2018, p. 179-186.

Research output: Contribution to journalArticle

Oyachi, M, Harada, D, Sakamoto, N, Ueyama, K, Kondo, K, Kishimoto, K, Izui, M, Nagamatsu, Y, Kashiwagi, H, Yamamuro, M, Tamura, M, Kikuchi, S, Akiyama, T, Michigami, T, Seino, Y & Namba, N 2018, 'A case of perinatal hypophosphatasia with a novel mutation in the ALPL gene: Clinical course and review of the literature' clinical pediatric endocrinology, vol. 27, no. 3, pp. 179-186. https://doi.org/10.1297/cpe.27.179
Oyachi, Maki ; Harada, Daisuke ; Sakamoto, Natsuko ; Ueyama, Kaoru ; Kondo, Kawai ; Kishimoto, Kanako ; Izui, Masafumi ; Nagamatsu, Yuiko ; Kashiwagi, Hiroko ; Yamamuro, Miho ; Tamura, Makoto ; Kikuchi, Shin ; Akiyama, Tomoyuki ; Michigami, Toshimi ; Seino, Yoshiki ; Namba, Noriyuki. / A case of perinatal hypophosphatasia with a novel mutation in the ALPL gene : Clinical course and review of the literature. In: clinical pediatric endocrinology. 2018 ; Vol. 27, No. 3. pp. 179-186.
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AU - Tamura, Makoto

AU - Kikuchi, Shin

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N2 - Hypophosphatasia (HPP) is a metabolic bone disease characterized by failure of bone calcification and vitamin B6 dependent seizures. It is caused by loss-of-function mutations in the ALPL gene. A newborn girl required respiratory support by nasal-directional positive airway pressure at birth, and pyridoxine hydrochloride administration for vitamin B6-dependent seizures observed from day two. Umbilical cord blood showed low alkaline phosphatase (ALP) activity and high pyridoxal phosphate levels. Radiographs showed severe rickets-like appearance of the bones. Genetic analysis of the ALPL gene revealed compound heterozygous mutations, c.1559delT/p.Ser188Pro. We diagnosed her with perinatal severe HPP, and started the patient on asfotase alfa from day six. Following enzyme replacement therapy (ERT), skeletal mineralization and respiratory insufficiency improved with no remarkable side-effects. Crying vital capacity (CVC) was used to evaluate respiratory status, which continuously improved from 13.3 mL/kg (day 22) to 20.6 mL/kg (day 113). Since no seizures occurred, pyridoxine hydrochloride was tapered off at one year of age. Strategies to manage perinatal severe HPP cases following ERT have not been established till date. A review of the literature shows that CVC may be a good indicator for weaning from ventilatory support. In addition, ERT will most likely enable withdrawal of pyridoxine treatment.

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