SUMMARY

Summary Clinical manifestations of Lignac‐Fanconi disease are dwarfing and wasting, rickets and osteoporosis, pyrexia, eye changes, sometimes with photophobia, vomiting, polydipsia and polyuria, dehydration, acidosis, sometimes tetany, states of profound collapse and even sudden death. Acute and chronic forms of the disorder are described. Laboratory investigations reveal aminoaciduria, glycosuria, and sometimes albuminuria and ketonuria. In the plasma there is amino‐acidaemia, evidence of acidosis, hypopotassaemia, mineral changes as seen in rickets, and perhaps hypocalcaemia and uraemia, which may be renal or extrarenal. In a short factual analysis the phosphorus‐calcium, protein, electrolyte and sugar metabolism as well as liver and kidney functions are discussed. A special section deals with E.C.G. changes, and electrophoretic investigations are described in an addendum. The diagnosis “Lignac‐Fanconi disease” should be suspected in all stunted children whose dwarfing is not obviously the result of other causes. Rickets, sometimes with severe deformity, evidence of kidney dysfunction and glycosuria are further cIinicaI features, while the discovery of cystine storage and the demonstration of aminoaciduria with a characteristic aminoacid pattern provide final proof of Lignac‐Fanconi disease. Differential diagnosis from renal rickets, resistant rickets, coeliac disease, renal acidosis, galactosaemia and glycogen storage disease may sometimes be difficult. Treatment of the rickets with massive vitamin D doses, of the acidosis with Albright's solution and of the hypopotassaemia with potassium salts has proved encouraging; acidotic and hypopotassaeinic crises have ceased, the children gain weight and grow slowly, their rickets is cured and they are livelier. Perhaps the most striking effect of prolonged alkalinisation is the gradual disappearance of amino‐aciduria. The case records are given in an addendum.