Article Text

PDF

Inborn enzymatic defect as the probable cause of the formation of renal stones consisting of uric acid
  1. Jerzy Krawczynski,
  2. Zbigniew Sagan,
  3. Elzbieta Walajtys,
  4. Krystyna Ilowiecka
  1. Department of Laboratory Diagnostics of the Postgraduate Medical School of Warsaw, Poland

    Abstract

    In four persons of one family the existence of an enzymatic defect, presumably consisting of a deficiency of glutaminase in the cells of the renal tubules, is postulated, and is implied by a reduced elimination of ammonia in the urine, by a relatively low urinary pH, and by its increased titratable acidity. The most characteristic clinical symptom is irritation of the distal part of the urinary tract, connected with numerous crystals of uric acid appearing in the urinary sediment. The elimination of uric acid is normal, or even reduced, and the level of uric acid in the blood serum is also within normal limits. After the administration of glutaminic acid elimination of ammonia is further decreased and the quantity of uric acid crystals is increased. Loading with glutaminic acid may also cause an attack of renal pain in the individual suffering from this defect but the administration of ammonium chloride does not cause any increase in ammonia production. It seems probable that the enzymatic defect is connected with the presence of antigen B in the erythrocytes and that it is inherited as a dominant autosomal feature. A suitable diet to make the urine alkaline allows kidneys to function efficiently in individuals suffering from this defect.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.