Impairment of multiple proximal tubular functions leads to a variety of biochemical and clinical abnormalities. Primary forms may be familial or sporadic. Secondary cases may results from toxic effects of heavy metals, old tetracycline compounds, galactosemia, Wilson disease etc.
There is generalized aminoaciduria, glycosuria, mild proteinuria, hyperphosphaturia, and reduction of urinary concentrating capacity. Systemic metabolic acidosis, hyperchloremia, hypokalemia and hypophosphatemia are the results. Symptoms may appear during infancy consisting of failure to thrive, fever and dehydration.
Subsequently, growth retardation and vitamin D-resistant rickets are striking.
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