Clinical Study of Renal Tubular Disease

  • Russell W. Chesney


Renal tubular diseases are a group of relatively uncommon disorders that can affect children of all ages and that have in common the development of disease because of renal hyperexcretion of ions or organic molecules that are normally reabsorbed by the kidney. Several characteristics of these disorders are largely universal and worth comment (1):
  1. 1.

    These disorders are usually inherited; more than one child in a family may be affected.

  2. 2.

    The children frequently present with growth failure.

  3. 3.

    They can be diagnosed by a simultaneous assessment of the serum and urine concentration of the substance that is being lost.

  4. 4.

    The principle of treatment usually involves the replacement of the substance lost in the urine. However, some disorders relate to the hyperexcretion of a toxic substance, such as cystine, which leads to damage, because it is insoluble or a metabolic poison.

  5. 5.

    Some of these disorders are benign and require no therapy. Thus, it is important to make the proper diagnosis so that unnecessary therapy can be avoided.



Renal Tubular Acidosis Fanconi Syndrome Hypophosphatemic Rickets Osteitis Fibrosa Nephropathic Cystinosis 
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  1. 1.
    Friedman AL, Chesney RW (1987) Isolated renal tubular defects. In: Schrier RM, Gottschalk CW (eds) Diseases of the Kidney, 4th edn. Little Brown, Boston, pp 663–688Google Scholar
  2. 2.
    Chesney RW, Novello AC (1987) Defects of renal tubular transport. In: Massry SG, Glassock RJ (eds) Textbook of Nephrology, 2nd edn. Williams and Wilkins, Baltimore, pp 445–460Google Scholar
  3. 3.
    Mitch WE, Chesney RW (1983) Amino acid metabolism by the kidney. Miner Electrolyte Metab 9:190–202PubMedGoogle Scholar
  4. 4.
    Desjeux J-F, Rajantie J, Simell O, et al (1980) Lysine fluxes across the jejunal epithelium in lysinuric protein intolerance. J Clin Invest 65:1382–1387PubMedCrossRefGoogle Scholar
  5. 5.
    Segal S, Thier SO (1983) Cystinuria, In: Stanbury JB, Wyngaarden JB, Frederickson DS, Goldstein JL, Brown MS (eds) The Metabolic Basis of Inherited Disease, 5th edn. McGraw Hill, New York, pp 1774–1791Google Scholar
  6. 6.
    Jepson JB (1983) Hartnup disease. In: Stanbury JB, Wyngaarden JB, Frederickson DS, Goldstein JL, Brown MS (eds) The Metabolic Basis of Inherited Disease, 5th edn. McGraw Hill, New York, pp 1804–1805Google Scholar
  7. 7.
    Chesney RW (1984) Metabolic bone disease. Pediatr Rev 5:227–237CrossRefGoogle Scholar
  8. 8.
    Chesney RW, Zimmerman J, Hamstra AJ, et al (1981) Vitamin D metabolite concentrations in vitamin D deficiency: are calcitrol levels normal? Am J Dis Child 135:1025–1028PubMedGoogle Scholar
  9. 9.
    Greer F, Chesney RW (1983) Disorders of calcium in the neonate. In: Moore ES, Kurtzman NA (eds) Seminars in Nephrology: Role of the Kidney in Mineral Homeostasis in Early Life. Grune and Stratton, New York, pp 110–115Google Scholar
  10. 10.
    Fraser D, Scriver CR (1976) Familial forms of vitamin D-resistant rickets: X-linked hypophosphatemia and autosomal recessive vitamin D dependency. Am J Clin Nutr 29:1315–1329PubMedGoogle Scholar
  11. 11.
    Chesney RW, Hamstra AJ, Phelps M, et al (1983) Vitamin D metabolites in renal insufficiency and other vitamin D disorders of children. Kidney Int 24:S63–S69CrossRefGoogle Scholar
  12. 12.
    Salusky IB, Coburn JW, Foley J, et al (1983) Effects of oral calcium carbonate on control of serum phosphorus and changes in plasma aluminum levels after discontinuation of aluminum containing gels in children receiving dialysis. J Pediatr 108:767–77013.Google Scholar
  13. 13.
    Dabbagh S, Chesney RW, Langer LO, et al (1984) Renal-nonresponsive, bone responsive pseudohypoparathyroidism. A case with vitamin D metabolite levels and clinical features of rickets. Am J Dis Child 138:1030–1033PubMedGoogle Scholar
  14. 14.
    Olorieux FH, Scriver CR, Reade TM, et al (1972) Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia. N Engl J Med 287:481–487CrossRefGoogle Scholar
  15. 15.
    Teider M, Modai D, Samuel R, et al (1985) Hereditary hypophosphatemic rickets with hypercalciuria. N Engl J Med 312:611–617CrossRefGoogle Scholar
  16. 16.
    Agus ZS, Wasserstein A, Goldfarb S (1982) Disorders of calcium and magnesium homeostasis. Am J Med 72:473–488PubMedCrossRefGoogle Scholar
  17. 17.
    Zelikovic I, Dabbagh S, Friedman AL, et al (1987) Severe renal osteodystrophy without elevated serum immunoreactive parathyroid hormone concentrations in hypomagnesemia due to renal magnesium wasting. Pediatrics 79:403–409PubMedGoogle Scholar
  18. 18.
    Gahl WA, Schneider JA, Thoene JG, et al (1986) Course of nephropathic cystinosis after age 10 years. J Pediatr 109:605–608PubMedCrossRefGoogle Scholar
  19. 19.
    Brewer E (1985) Clinical aspects of the Fanconi syndrome. In: Gonick H, Buckalew VM, Jr (eds) Renal Tubular Disorders. Marcel Deckker, New York. pp 475–544Google Scholar
  20. 20.
    Chesney RW, Kaplan BS, Colle E, et al (1980) Abnormalities of carbohydrate metabolism in idiopathic Fanconi syndrome. Pediatr Res 14:209–215PubMedGoogle Scholar
  21. 21.
    Barakat AY, Francis YK, Mufarrij AA (1986) Hypokalemic alkalosis, hyper-reninemia, aldosteronism, normal blood pressure and normal juxtaglomerular apparatus—a new syndrome of renal alkalosis. Int J Pediatr Nephrol 7:99–100PubMedGoogle Scholar
  22. 22.
    Roth KS, Buckalew VM, Jr, Chan JCM (1985) Renal tubular disorders. Curr Nephrol 8:87–137Google Scholar
  23. 23.
    Stein JH (1985) The pathogenetic spectrum of Bartter’s syndrome. Kidney Int 28:85–93PubMedCrossRefGoogle Scholar
  24. 24.
    Seyberth HW, Rascher W, Schweer H, et al (1985) Congenital hypokalemia with hypercalcemia in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome. J Pediatr 107:694–701PubMedCrossRefGoogle Scholar
  25. 25.
    Roy S III, Arant BS, Jr (1981) Hypokalemic metabolic alkalosis in normotensive infants with elevated plasma renin activity and hyperaldosteronism: Role of dietary chloride deficiency. Pediatrics 67:423–429PubMedGoogle Scholar

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© Springer-Verlag New York Inc. 1990

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  • Russell W. Chesney

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