title: Persistent isolated proximal renal tubular acidosis--a systemic disease with a distinct clinical entity.
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 clinical entity which may be transmitted by autosomal recessive inheritance.
authors.affiliation: Department of Paediatrics, Faculty of Medicine, University of Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Igarashi
authors.forename: T
authors.initials: T
authors.lastname: Ishii
authors.forename: K
authors.initials: K
authors.lastname: Watanabe
authors.forename: H
authors.initials: H
authors.lastname: Hayakawa
authors.forename: K
authors.initials: K
authors.lastname: Horio
authors.forename: Y
authors.initials: Y
authors.lastname: Sone
authors.forename: K
authors.initials: K
authors.lastname: Ohga
mesh_terms: D000141:Acidosis, Renal Tubular / Q000150:complications* / Q000235:genetics; D000293:Adolescent; D001927:Brain Diseases / Q000150:complications; D002114:Calcinosis / Q000150:complications; D002386:Cataract / Q000150:complications; D003316:Corneal Diseases / Q000150:complications; D005260:Female; D005901:Glaucoma / Q000150:complications; D006130:Growth Disorders / Q000150:complications; D006801:Humans