The Fanconi syndrome; metabolic studies on treatment.

The association of rickets or osteomalacia with a variety of renal tubular defects, probably congenital, has been called by many different names such as resistant rickets, Fanconi syndrome, and hyperchloraemic acidosis with nephrocalcinosis. They have been classified by I)ent (1952) into six main types according to the various combinations of recognisal)Ie defects of tubule function. The Fanconi syndrome (I)ent Type 4), with which this paper is alone concerned, is characterised by rickets or osteomalacia with an associated deficiency of tubular reabsorption of phosphate, glucose, certain amino acids and sometimes of water and potassium. The inability of the kidney to maintain the acid-base balance of the body causes a chronic acidosis and loss of calcium. Although the main lesion is tubular, there is frequent evidence of glomerular damage as shown by an impaired glomerular filtration rate and preseiicc of proteinuria. Iii the commonest form of this syndrome symptoms begin in early life, the child being brought for advice at one to two years of age with active rickets which fails to respond to normal doses of vitamin D. Other symptoms related to the associated electrolyte defect may also he present. Occasionally the defect does not become apparent until middle life, when osteomalacia is found, perhaps with pseudo-fractures. We are reporting a case from each of these groups. There are many accounts of this interesting and rare syndrome. The literature between 1926 and 1943 was reviewed by McCune, Mason and Clarke (1943) when reporting a case of their own. Stowers and Dent (1947) published detailed observations and necropsy findings on an adult patient. Cooke et al. (1947) also reported an adult case, as did Milne, Stanbury and Thomson (1952). Linder, Bull and (;rayce (1949) investigated a case associated with