[Amino acid disorders in diseases of the genital system].
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A patient with a Lowe syndrome was observed from birth. Progressive hyperchloraemic renal tubular acidosis, hypophosphataemia, hyperphosphaturia and generalized hyperaminoaciduria had developed in infancy. Supplementary vitamin D, alkali and a high intake of dietary phosphate were unsuccessful in controlling the severe phosphate diabetes and rickets. Contraction of the extracellular fluid volume by dietary sodium restriction resulted in correction of the acidosis, hypophosphataemia, hyperaminoaciduria, and hyperphosphaturia, and healing of the rickets.
A case of the Fanconi syndrome in an adult presenting with life-threatening hypokalaemia is described. Amino-aciduria, glycosuria, high phosphate and uric acid clearances with reduced plasma levels of these two substances, reduced urinary concentrating power and abnormal urinary potassium loss with a systemic acidosis, were the essential biochemical abnormalities. Osteomalacia was shown by a radiological bone survey.
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