GLUCOSURIA AND UNUSUAL AMINOACIDURIA

Abstract

The association of glucosuria and aminoaciduria in the absence of other aspects of Fanconi's syndrome is rare. We have studied a kindred in which the proband was an asymptomatic 17 yr. old male referred with glycosuria. He was found to have renal glucosuria, but excretion and tubular reabsorption of phosphate, bicarbonate excretion, concentrating and acidifying ability, GFR, protein excretion, bone radiographs and physical examination were normal. Urinary losses of most neutral and dibasic amino acids were increased 1.5-6 fold generally reflecting an exaggeration of the normal pattern, but of considerable interest are the normal renal clearances and excretions for proline, the dicarboxylic amino acids (glutamate & aspartate), methlonine & isoleucine. Other proximal tubular functions and GFR were normal in family members. There were fewer abnormally excreted amino acids, and in generally lesser amounts, in father and sibs 2&3 than in the proband. In all siblings, the severity of aminoaciduria correlated with the degree of glucosuria and with age. The association of these abnormalities in this family suggests dominant inheritance of glucosuria from the mother and aminoaciduria from the father.