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et al Bourke E (1972)
Primary hyperoxaluria with normal alpha-keto-glutarate:glyoxalate carboligase activity.Ann Intern Med, 76
J. Mahony, B. Storey, S. McCarthy, J. Stewart (1972)
Treatment of oxaluric renal failure.The New England journal of medicine, 287 24
H. Williams, L. Smith (1968)
L-glyceric aciduria. A new genetic variant of primary hyperoxaluria.The New England journal of medicine, 278 5
et al Koch J (1967)
Deficiency of 2-oxoglutarate:glyoxalate carboligase in primary hyperoxaluria.Proc Nat Acad Sci USA, 57
Wainer A King JS Jr (1968)
Glyoxalate metabolism in normal stone forming humans and the effect of allopurinal therapy.Exp Biol Med, 128
B. Koch, A. Irvine, J. Barr, W. Poznanski (1972)
Three kidney transplantations in a patient with primary hereditary hyperoxaluria.Canadian Medical Association journal, 106 12
T. Friedmann, R. Roblin (1972)
Gene Therapy for Human Genetic Disease?Science, 175
et al Koch B (1972)
Three kidney transplantations in a patient with primary familial hyperoxaluria.Can Med Assoc J, 106
C. Solomons, S. Goodman, C. Riley (1967)
Calcium carbimide in the treatment of primary hyperoxaluria.The New England journal of medicine, 276 4
J. Walls, A. Morley, D. Kerr (1969)
Primary hyperoxaluria in adult siblings: with some observations on the role of regular haemodialysis therapy.British journal of urology, 41 5
Smith LH Jr Williams HE (1972)
Primary Hyperoxaluria: The Metabolic Basis of Inherited Disease
Griffin WJ Dean BM (1966)
Primary hyperoxaluria.Lancet, 1
Gross S (1955)
Granulomatous thyroiditis with anisotropic crystalline material.Arch Pathol, 59
J. Klauwers, P. Wolf, R. Cohn (1969)
Failure of Renal Transplantation in Primary OxalosisnJAMA, 209
R. Daniels, R. Michels, P. Aisen, G. Goldstein (1960)
Familial hyperoxaluria. Report of a family, review of the literature.The American journal of medicine, 29
D. Gibbs, R. Watts (1970)
The action of pyridoxine in primary hyperoxaluria.Clinical science, 38 2
E. Bourke, G. Frindt, P. Flynn, G. Schreiner (1972)
Primary hyperoxaluria with normal alpha-ketoglutarate: glyoxylate carboligase activity. Treatment with isocarboxazid.Annals of internal medicine, 76 2
Johnson FB Zimmerman LE (1958)
Calcium oxalate crystals within ocular tissues.Arch Ophthalmol, 60
P. Zarembski, S. Rosen, A. Hodgkinson (1969)
Dialysis in the treatment of primary hyperoxaluria.British journal of urology, 41 5
J. King, A. Wainer (1968)
Glyoxylate Metabolism in Normal and Stone-Forming Humans and the Effect of Allopurinol TherapyProceedings of the Society for Experimental Biology and Medicine, 128
Lynwood Smith, Williams He (1967)
Treatment of primary hyperoxaluria.Modern treatment, 4 3
L. Zimmerman, F. Johnson (1958)
Calcium oxalate crystals within ocular tissues; a clinicopathologic and histochemical study.A.M.A. archives of ophthalmology, 60 3
S. Deodhar, K. Tung, V. Zühlke, S. Nakamoto (1969)
Renal homotransplantation in a patient with primary familial oxalosis.Archives of pathology, 87 1
et al Danials RA (1960)
Familial hyperoxaluria.Am J Med, 29
S. Gross (1955)
Granulomatous thyroiditis with anisotropic crystalline material.A.M.A. archives of pathology, 59 4
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
Archives of Internal Medicine – American Medical Association
Published: Mar 1, 1974
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