Persistent isolated proximal renal tubular acidosis — a systemic disease with a distinct clinical entity |
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Authors: | Takashi Igarashi Tetuya Ishii Katuya Watanabe Hiroshi Hayakawa Keizo Horio Yoshiharu Sone Kazuhiro Ohga |
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Institution: | (1) Department of Paediatrics, Faculty of Medicine, The University of Tokyo, Mejirodai Campus, 3-28-6 Mejirodai, 112 Bunkyo-ku, Tokyo, Japan;(2) Department of Paediatrics, Ohta-nishinouchi Hospital, Kohriyama, Fukushima, Japan |
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Abstract: | We describe a 16-year-old female with persistent isolated proximal renal tubular acidosis, cerebral calcification, mental retardation, band keratopathy, cataracts, glaucoma and short stature. Severe metabolic acidosis and hypokalaemia were linked to an abnormally low renal threshold for bicarbonate reabsorption (8 mmol/l). Maximal rates of urinary excretion of titratable acid and ammonium were normal; erythrocyte carbonic anhydrase II was normal. This rare case represents a systemic disease with a distinct clincal entity which may be transmitted by autosomal recessive inheritance. |
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Keywords: | Persistent proximal renal tubular acidosis Cerebral calcification Band keratopathy Cataracts Glaucoma |
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