A Case of Congenital Cirrhosis of the Liver with Renal Tubular Defects Akin to Those in the Fanconi Syndrome

The excretion of abnormal quantities of amino-acids in the urine is known to occur in liver disease when the cells of this organ are unable to metabolize normally, and in certain clinical syndromes in which there is a high renal clearance of amino-acids, but it is only recently that definite patterns of amino-acid excretion have become recognized (Dent, 1952-53). Fanconi (1936) first drew attention to the presence of amino-aciduria in a syndrome occurring in children, previously described by several authors including himself, and characterized by dwarfism, vitamin D-resistant rickets, glycosuria of the renal type and excessive excretion of water and phosphate. The amino-acid pattern of the urine in this syndrome has now been shown to be constant