Persistent isolated proximal renal tubular acidosis ? a systemic disease with a distinct clinical entity
| Autor: | Takashi Igarashi, Keizo Horio, Kazuhiro Ohga, Hiroshi Hayakawa, Yoshiharu Sone, Katuya Watanabe, Tetuya Ishii |
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| Rok vydání: | 1994 |
| Předmět: |
Nephrology
medicine.medical_specialty Adolescent Carbonic anhydrase II Cataract Corneal Diseases Tubulopathy Internal medicine medicine Humans Band keratopathy Growth Disorders Brain Diseases business.industry Metabolic disorder Calcinosis Glaucoma Metabolic acidosis Acidosis Renal Tubular medicine.disease Endocrinology Pediatrics Perinatology and Child Health Female Renal threshold business Proximal renal tubular acidosis |
| Zdroj: | Pediatric Nephrology. 8:70-71 |
| ISSN: | 1432-198X 0931-041X |
| DOI: | 10.1007/bf00868266 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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