caa a22 4500 465811779 CHVBK 20180323112118.0 cr unu---uuuuu 170327e19900401xx s 000 0 eng 10.1007/BF02374742 doi (NATIONALLICENCE)springer-10.1007/BF02374742 Familial hypophosphatemic rickets with proximal renal tubular acidosis [Elektronische Daten] [Youichi Koide, Kazuhiro Kushida, Yoshihiko Sumi, Masashi Denda, Kaoru Yamazaki, Tetsuo Inoue, Kuniaki Katayama, Kiyohito Saito, Youichi Kobayashi] We have experienced 3 case of familial hypophosphatemic rickets with proximal renal tubular acidosis. Consisting of a family of 2 years old girl, 7 months old girl baby and their father aged 42 years. Roentgenological studies, biochemical tests on blood and renal function tests revealed hypophosphatemia in all these patients. Metabolic acidosis was found only in the 2 girls. Distal renal tubular acidosis was not found to be responsible for the metabolic disorder according to the sodium bicarbonate (NaHCO3), and ammonium chloride (NH4cl) load testing. No glycosuria, proteinuria and panaminoaciduris were detected, so that Fanconi's syndrome was ruled out and the diagnosis of hypophosphatemia was made. Based on these 3 cases, future status of untreated patients with this disease could be predicted. The course of this disease can be divided into 3 stages, infant, childfood and adult period. Japanese Society of Bone Metabolism Research, 1990 Family nationallicence hypophosphatemic rickets nationallicence proximal renal tubular acidosis nationallicence Koide Youichi Hamamatsu Univ. school of Med. Depart. of Orthop. Surg., 431-31 3600, Handa-cho, Hamamatsu-city aut Kushida Kazuhiro Hamamatsu Univ. school of Med. Depart. of Orthop. Surg., 431-31 3600, Handa-cho, Hamamatsu-city aut Sumi Yoshihiko Hamamatsu Univ. school of Med. Depart. of Orthop. Surg., 431-31 3600, Handa-cho, Hamamatsu-city aut Denda Masashi Hamamatsu Univ. school of Med. Depart. of Orthop. Surg., 431-31 3600, Handa-cho, Hamamatsu-city aut Yamazaki Kaoru Hamamatsu Univ. school of Med. Depart. of Orthop. Surg., 431-31 3600, Handa-cho, Hamamatsu-city aut Inoue Tetsuo Hamamatsu Univ. school of Med. Depart. of Orthop. Surg., 431-31 3600, Handa-cho, Hamamatsu-city aut Katayama Kuniaki Tokyo Jikeikai Med. Univ. Depart. of Orthop. Surg., Japan aut Saito Kiyohito Tokyo Jikeikai Med. Univ. Depart. of Orthop. Surg., Japan aut Kobayashi Youichi Tokyo Jikeikai Med. Univ. Depart. of Orthop. Surg., Japan aut Journal of Bone and Mineral Metabolism Springer-Verlag 8/1(1990-04-01), 30-35 0914-8779 8:1<30 1990 8 774 https://doi.org/10.1007/BF02374742 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02374742 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Koide Youichi Hamamatsu Univ. school of Med. Depart. of Orthop. Surg., 431-31 3600, Handa-cho, Hamamatsu-city aut NATIONALLICENCE 700 1- Kushida Kazuhiro Hamamatsu Univ. school of Med. Depart. of Orthop. Surg., 431-31 3600, Handa-cho, Hamamatsu-city aut NATIONALLICENCE 700 1- Sumi Yoshihiko Hamamatsu Univ. school of Med. Depart. of Orthop. Surg., 431-31 3600, Handa-cho, Hamamatsu-city aut NATIONALLICENCE 700 1- Denda Masashi Hamamatsu Univ. school of Med. Depart. of Orthop. Surg., 431-31 3600, Handa-cho, Hamamatsu-city aut NATIONALLICENCE 700 1- Yamazaki Kaoru Hamamatsu Univ. school of Med. Depart. of Orthop. Surg., 431-31 3600, Handa-cho, Hamamatsu-city aut NATIONALLICENCE 700 1- Inoue Tetsuo Hamamatsu Univ. school of Med. Depart. of Orthop. Surg., 431-31 3600, Handa-cho, Hamamatsu-city aut NATIONALLICENCE 700 1- Katayama Kuniaki Tokyo Jikeikai Med. Univ. Depart. of Orthop. Surg., Japan aut NATIONALLICENCE 700 1- Saito Kiyohito Tokyo Jikeikai Med. Univ. Depart. of Orthop. Surg., Japan aut NATIONALLICENCE 700 1- Kobayashi Youichi Tokyo Jikeikai Med. Univ. Depart. of Orthop. Surg., Japan aut NATIONALLICENCE 773 0- Journal of Bone and Mineral Metabolism Springer-Verlag 8/1(1990-04-01), 30-35 0914-8779 8:1<30 1990 8 774 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer