caa a22 4500 475786807 CHVBK 20180406123700.0 cr unu---uuuuu 170329e20000401xx s 000 0 eng 10.1007/s004310051290 doi (NATIONALLICENCE)springer-10.1007/s004310051290 Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene [Elektronische Daten] [Hiroshi Mochizuki, Mariko Saito, Toshimi Michigami, Hirofumi Ohashi, Naoya Koda, Shuichi Yamaguchi, Keiichi Ozono] We report the case of a male patient with infantile hypophosphatasia associated with severe hypercalcaemia and mild respiratory insufficiency. At the age of 2 months, severe hypercalcaemia, low levels of serum alkaline phosphatase activity, and elevated urinary excretion of calcium and phosphoethanolamine were noted. Radiological findings showed generalized osteopenia and disturbed and irregular ossification of the metaphyses. Their involvement had spontaneously improved at the age of 6 months. A genetic study revealed that the tissue-nonspecific alkaline phosphatase gene of the patient had two novel mutations, K207E and G409C, derived from the mother and father, respectively. A reconsitution experiment revealed that both mutant gene products had low but significant enzymatic activity. Conclusion The detection of tissue-nonspecific alkaline phosphatase gene mutations and expression studies to determine the enzymatic activity of mutant gene products was useful for assessing the clinical course of this patient with hypophosphatasia. Springer-Verlag Berlin Heidelberg, 2000 Key words Infantile hypophosphatasia nationallicence Hypercalcaemia nationallicence Respiratory insufficiency nationallicence Alkaline phosphatase nationallicence TNSALP gene nationallicence Mochizuki Hiroshi Division of Endocrinology and Metabolism, Saitama Children's Medical Centre, 2100 Magome, Iwatsuki, Saitama 339-8551, Japan e-mail: h-mochi@zb3.so-net.ne.jp Tel.: +81-48-7581811; Fax: +81-48-7581818, JP aut Saito Mariko Department of Environmental Medicine, Osaka Medical Centre and Research Institute for Maternal and Child Health, Izumi, Osaka 594-1101, Japan, JP aut Michigami Toshimi Department of Environmental Medicine, Osaka Medical Centre and Research Institute for Maternal and Child Health, Izumi, Osaka 594-1101, Japan, JP aut Ohashi Hirofumi Division of Medical Genetics, Saitama Children's Medical Centre, Iwatsuki, Saitama 339-8551, Japan, JP aut Koda Naoya Division of Endocrinology and Metabolism, Saitama Children's Medical Centre, 2100 Magome, Iwatsuki, Saitama 339-8551, Japan e-mail: h-mochi@zb3.so-net.ne.jp Tel.: +81-48-7581811; Fax: +81-48-7581818, JP aut Yamaguchi Shuichi Division of Endocrinology and Metabolism, Saitama Children's Medical Centre, 2100 Magome, Iwatsuki, Saitama 339-8551, Japan e-mail: h-mochi@zb3.so-net.ne.jp Tel.: +81-48-7581811; Fax: +81-48-7581818, JP aut Ozono Keiichi Department of Environmental Medicine, Osaka Medical Centre and Research Institute for Maternal and Child Health, Izumi, Osaka 594-1101, Japan, JP aut https://doi.org/10.1007/s004310051290 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004310051290 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Mochizuki Hiroshi Division of Endocrinology and Metabolism, Saitama Children's Medical Centre, 2100 Magome, Iwatsuki, Saitama 339-8551, Japan e-mail: h-mochi@zb3.so-net.ne.jp Tel.: +81-48-7581811; Fax: +81-48-7581818, JP aut NATIONALLICENCE 700 1- Saito Mariko Department of Environmental Medicine, Osaka Medical Centre and Research Institute for Maternal and Child Health, Izumi, Osaka 594-1101, Japan, JP aut NATIONALLICENCE 700 1- Michigami Toshimi Department of Environmental Medicine, Osaka Medical Centre and Research Institute for Maternal and Child Health, Izumi, Osaka 594-1101, Japan, JP aut NATIONALLICENCE 700 1- Ohashi Hirofumi Division of Medical Genetics, Saitama Children's Medical Centre, Iwatsuki, Saitama 339-8551, Japan, JP aut NATIONALLICENCE 700 1- Koda Naoya Division of Endocrinology and Metabolism, Saitama Children's Medical Centre, 2100 Magome, Iwatsuki, Saitama 339-8551, Japan e-mail: h-mochi@zb3.so-net.ne.jp Tel.: +81-48-7581811; Fax: +81-48-7581818, JP aut NATIONALLICENCE 700 1- Yamaguchi Shuichi Division of Endocrinology and Metabolism, Saitama Children's Medical Centre, 2100 Magome, Iwatsuki, Saitama 339-8551, Japan e-mail: h-mochi@zb3.so-net.ne.jp Tel.: +81-48-7581811; Fax: +81-48-7581818, JP aut NATIONALLICENCE 700 1- Ozono Keiichi Department of Environmental Medicine, Osaka Medical Centre and Research Institute for Maternal and Child Health, Izumi, Osaka 594-1101, Japan, JP aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer