caa a22 4500 475784871 CHVBK 20180406123655.0 cr unu---uuuuu 170329e20001101xx s 000 0 eng 10.1007/PL00008363 doi (NATIONALLICENCE)springer-10.1007/PL00008363 Genetic and long-term data on a patient with permanent isolated proximal renal tubular acidosis [Elektronische Daten] [Masaaki Shiohara, Takashi Igarashi, Tetsuo Mori, Atsushi Komiyama] A 12-year-old girl presented with permanent isolated proximal renal tubular acidosis (pRTA), glaucoma, band keratopathy, mild cataract and short stature. Severe metabolic acidosis was caused by the impairment of bicarbonate reabsorption in the proximal tubules and alkali therapy improved her acidaemia. A homozygous G to A transition at nucleotide 1,678 in the basolateral kidney type Na+/HCO3 − (kNBC) co-transporter gene SLC4A4, which is critical in HCO3 − resorption in renal proximal tubules, was identified. Her height and height velocity (HV) were very low (−4.0 SD and −4.4 SD, respectively) before alkali treatment, but both improved after initiating alkali therapy at the age of 2 years and 3 months. The patient's body height and HV were 131.5 cm (−2.7 SD) and 4.0 cm (−2.0 SD), respectively at the age of 12 years. Conclusion This case demonstrates that early administration of alkali therapy and sustained correction of acidosis, even if inadequate to correct the metabolic acidosis, can markedly improves growth in permanent isolated proximal renal tubular acidosis. Springer-Verlag Berlin Heidelberg, 2000 Key words Alkali therapy nationallicence Growth nationallicence Permanent isolated proximal renal tubular acidosis nationallicence AbbreviationsHV height velocity nationallicence NBC bicarbonate transporter nationallicence pRTA proximal renal tubular acidosis nationallicence RTA renal tubular acidosis nationallicence Shiohara Masaaki Department of Paediatrics, Shinshu University School of Medicine, 3-1-1, Asahi, Matsumoto, 390-8621 Japan e-mail: shiohara@hsp.md.shinshu-u.ac.jp Tel.: +81-263-372642; Fax: +81-263-345598, JP aut Igarashi Takashi Department of Paediatrics, Faculty of Medicine, The University of Tokyo, Mejirodai Campus, 3-28-6 Mejirodai, Bunkyo-ku, Tokyo 112-8688, Japan, JP aut Mori Tetsuo Department of Paediatrics, Shinshu University School of Medicine, 3-1-1, Asahi, Matsumoto, 390-8621 Japan e-mail: shiohara@hsp.md.shinshu-u.ac.jp Tel.: +81-263-372642; Fax: +81-263-345598, JP aut Komiyama Atsushi Department of Paediatrics, Shinshu University School of Medicine, 3-1-1, Asahi, Matsumoto, 390-8621 Japan e-mail: shiohara@hsp.md.shinshu-u.ac.jp Tel.: +81-263-372642; Fax: +81-263-345598, JP aut https://doi.org/10.1007/PL00008363 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00008363 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Shiohara Masaaki Department of Paediatrics, Shinshu University School of Medicine, 3-1-1, Asahi, Matsumoto, 390-8621 Japan e-mail: shiohara@hsp.md.shinshu-u.ac.jp Tel.: +81-263-372642; Fax: +81-263-345598, JP aut NATIONALLICENCE 700 1- Igarashi Takashi Department of Paediatrics, Faculty of Medicine, The University of Tokyo, Mejirodai Campus, 3-28-6 Mejirodai, Bunkyo-ku, Tokyo 112-8688, Japan, JP aut NATIONALLICENCE 700 1- Mori Tetsuo Department of Paediatrics, Shinshu University School of Medicine, 3-1-1, Asahi, Matsumoto, 390-8621 Japan e-mail: shiohara@hsp.md.shinshu-u.ac.jp Tel.: +81-263-372642; Fax: +81-263-345598, JP aut NATIONALLICENCE 700 1- Komiyama Atsushi Department of Paediatrics, Shinshu University School of Medicine, 3-1-1, Asahi, Matsumoto, 390-8621 Japan e-mail: shiohara@hsp.md.shinshu-u.ac.jp Tel.: +81-263-372642; Fax: +81-263-345598, JP aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer