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Renal Transplantation in Primary Hyperoxaluria

Renal Transplantation in Primary Hyperoxaluria Abstract Type I primary hyperoxaluria is a rare autosomal recessive disorder of gloxylate matabolism that ultimately leads to chronic renal insufficiency.1 While numerous forms of therapy have been tried, none has been shown to halt the inexorable progression of the renal lesion. We report a patient with renal failure secondary to primary hyperoxaluria. The patient received a renal transplant, and we review the literature on transplantation in this metabolic disorder. Patient Summary Patient 1. —A 30-year-old white man was transferred to the Peter Bent Brigham Hospital on March 30,1971, to be evaluated for long-term hemodialysis and kidney transplantation. When two years old, he first passed a renal stone. Renal colic recurred when the patient was 12 years old and in the ensuing years he passed numerous stones. When he was 18 years old, the patient had a blood urea nitrogen (BUN) concentration of 50 mg/100 ml and bilateral nephrolithiasis. In References 1. Williams HE, Smith LH Jr: Primary Hyperoxaluria: The Metabolic Basis of Inherited Disease , ed 3. JB Stanbury, JB Wyngaarden, DS Fredrickson (eds), New York, McGraw-Hill Book Co Inc, 1972, pp 196-219. 2. Koch J, et al: Deficiency of 2-oxoglutarate:glyoxalate carboligase in primary hyperoxaluria. Proc Nat Acad Sci USA 57:1123-1129, 1967.Crossref 3. Williams HE, Smith LH Jr: L-Glyceric aciduria: A new genetic variant of primary oxaluria. N Engl J Med 278:233-239, 1968.Crossref 4. Danials RA, et al: Familial hyperoxaluria. Am J Med 29:820-831, 1960.Crossref 5. Smith LH, Williams HE: Treatment of primary hyperoxaluria. Mod Treat 4:522-530, 1967. 6. King JS Jr, Wainer A: Glyoxalate metabolism in normal stone forming humans and the effect of allopurinal therapy. Exp Biol Med 128:1162-1164,1968.Crossref 7. Solomons CC, Goodman SI, Riley CM: Calcium carbimine in the treatment of primary hyperoxaluria. N Engl J Med 276:207-210, 1967.Crossref 8. Dean BM, Griffin WJ, Watts RWE: Primary hyperoxaluria. Lancet 1:406, 1966.Crossref 9. Bourke E, et al: Primary hyperoxaluria with normal alpha-keto-glutarate:glyoxalate carboligase activity. Ann Intern Med 76:279-284, 1972.Crossref 10. Walls J, Morley AR, Kerr DNS: Primary hyperoxaluria in adult siblings with some observations on the role of regular hemodialysis therapy. Br J Urol 39:546-553, 1969.Crossref 11. Zarembski PM, Rosen SM, Hodgkinson A: Dialysis in the treatment of primary hyperoxaluria. Br J Urol 39:530-533, 1969.Crossref 12. Deodhar SD, et al: Renal homotransplantation in a patient with primary familial oxalosis. Arch Pathol 87:118-124, 1969. 13. Koch B, et al: Three kidney transplantations in a patient with primary familial hyperoxaluria. Can Med Assoc J 106:1323-1326, 1972. 14. Mahony JF, et al: Treatment of oxaluri renal failure. N Engl J Med 287:1252, 1972. 15. Klauwers J, Wolf PL, Cohn R: Failure of renal transplantation in primary oxalosis. JAMA 209:551, 1969.Crossref 16. Gibbs DA, Watts RWE: The action of pyridoxine in primary hyperoxaluria. Clin Sci 38:277-286, 1970. 17. Friedmann T, Roblin R: Gene therapy of human genetic disease. Science 175:949-955, 1971.Crossref 18. Gross S: Granulomatous thyroiditis with anisotropic crystalline material. Arch Pathol 59:412-418, 1955. 19. Zimmerman LE, Johnson FB: Calcium oxalate crystals within ocular tissues. Arch Ophthalmol 60:372-383, 1958.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Internal Medicine American Medical Association

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References (25)

Publisher
American Medical Association
Copyright
Copyright © 1974 American Medical Association. All Rights Reserved.
ISSN
0003-9926
eISSN
1538-3679
DOI
10.1001/archinte.1974.00320150138019
Publisher site
See Article on Publisher Site

Abstract

Abstract Type I primary hyperoxaluria is a rare autosomal recessive disorder of gloxylate matabolism that ultimately leads to chronic renal insufficiency.1 While numerous forms of therapy have been tried, none has been shown to halt the inexorable progression of the renal lesion. We report a patient with renal failure secondary to primary hyperoxaluria. The patient received a renal transplant, and we review the literature on transplantation in this metabolic disorder. Patient Summary Patient 1. —A 30-year-old white man was transferred to the Peter Bent Brigham Hospital on March 30,1971, to be evaluated for long-term hemodialysis and kidney transplantation. When two years old, he first passed a renal stone. Renal colic recurred when the patient was 12 years old and in the ensuing years he passed numerous stones. When he was 18 years old, the patient had a blood urea nitrogen (BUN) concentration of 50 mg/100 ml and bilateral nephrolithiasis. In References 1. Williams HE, Smith LH Jr: Primary Hyperoxaluria: The Metabolic Basis of Inherited Disease , ed 3. JB Stanbury, JB Wyngaarden, DS Fredrickson (eds), New York, McGraw-Hill Book Co Inc, 1972, pp 196-219. 2. Koch J, et al: Deficiency of 2-oxoglutarate:glyoxalate carboligase in primary hyperoxaluria. Proc Nat Acad Sci USA 57:1123-1129, 1967.Crossref 3. Williams HE, Smith LH Jr: L-Glyceric aciduria: A new genetic variant of primary oxaluria. N Engl J Med 278:233-239, 1968.Crossref 4. Danials RA, et al: Familial hyperoxaluria. Am J Med 29:820-831, 1960.Crossref 5. Smith LH, Williams HE: Treatment of primary hyperoxaluria. Mod Treat 4:522-530, 1967. 6. King JS Jr, Wainer A: Glyoxalate metabolism in normal stone forming humans and the effect of allopurinal therapy. Exp Biol Med 128:1162-1164,1968.Crossref 7. Solomons CC, Goodman SI, Riley CM: Calcium carbimine in the treatment of primary hyperoxaluria. N Engl J Med 276:207-210, 1967.Crossref 8. Dean BM, Griffin WJ, Watts RWE: Primary hyperoxaluria. Lancet 1:406, 1966.Crossref 9. Bourke E, et al: Primary hyperoxaluria with normal alpha-keto-glutarate:glyoxalate carboligase activity. Ann Intern Med 76:279-284, 1972.Crossref 10. Walls J, Morley AR, Kerr DNS: Primary hyperoxaluria in adult siblings with some observations on the role of regular hemodialysis therapy. Br J Urol 39:546-553, 1969.Crossref 11. Zarembski PM, Rosen SM, Hodgkinson A: Dialysis in the treatment of primary hyperoxaluria. Br J Urol 39:530-533, 1969.Crossref 12. Deodhar SD, et al: Renal homotransplantation in a patient with primary familial oxalosis. Arch Pathol 87:118-124, 1969. 13. Koch B, et al: Three kidney transplantations in a patient with primary familial hyperoxaluria. Can Med Assoc J 106:1323-1326, 1972. 14. Mahony JF, et al: Treatment of oxaluri renal failure. N Engl J Med 287:1252, 1972. 15. Klauwers J, Wolf PL, Cohn R: Failure of renal transplantation in primary oxalosis. JAMA 209:551, 1969.Crossref 16. Gibbs DA, Watts RWE: The action of pyridoxine in primary hyperoxaluria. Clin Sci 38:277-286, 1970. 17. Friedmann T, Roblin R: Gene therapy of human genetic disease. Science 175:949-955, 1971.Crossref 18. Gross S: Granulomatous thyroiditis with anisotropic crystalline material. Arch Pathol 59:412-418, 1955. 19. Zimmerman LE, Johnson FB: Calcium oxalate crystals within ocular tissues. Arch Ophthalmol 60:372-383, 1958.Crossref

Journal

Archives of Internal MedicineAmerican Medical Association

Published: Mar 1, 1974

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