Persistent isolated proximal renal tubular acidosis ? a systemic disease with a distinct clinical entity
- 1 February 1994
- journal article
- case report
- Published by Springer Nature in Pediatric Nephrology
- Vol. 8 (1) , 70-71
- https://doi.org/10.1007/bf00868266
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.Keywords
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