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Adolescent Cystinosis: A Case Presentation and Review of the Recent Literature

Adolescent Cystinosis: A Case Presentation and Review of the Recent Literature Abstract Cystinosis, being a rare metabolic disease, has been sporadically described in the literature. The classification, histopathological findings, and treatment of this disease are often confusing if not contradictory. This report describes a case of "adolescent" cystinosis with an attempt to clarify the classification, clinical histopathological findings, and treatment of this entity. References 1. Goldman H, et al: Adolescent cystinosis: Comparisons with infantile and adult forms . Pediatrics 47:979-988, 1971. 2. Seegmiller JE, et al: Cystinosis . Ann Intern Med 68:883-905, 1968.Crossref 3. Bickel H, et al: Cystine storage disease with aminoaciduria and dwarfism (Lignac-Fancon syndrome) . Acta Paediatr Scand 42( (suppl 90) ):9-15, 1952.Crossref 4. Cogan DG, et al: Cystinosis in an adult . JAMA 164:394-396, 1957.Crossref 5. Lietman PS, et al: Adult cystinosis—a benign disorder . J Med 40:511-514, 1966.Crossref 6. Brubaker RF, et al: Benign cystinosis; The clinical, biochemical, and morphological findings in a family with two affected siblings . Am J Med 49:546-550, 1970.Crossref 7. Spear GS, et al: Polykaryocytosis of the visceral glomerular epithelium in cystinosis with description of an unusual clinical variant . Johns Hopkins Med J 129:83-99, 1971. 8. Duke-Elder S, Leigh AG: System of Ophthalmology, Disease of the Outer Eye . St. Louis, CV Mosby Co, 1965, vol 8. 9. Cogan DG, et al: Ocular manifestations of systemic cystinosis . Arch Ophthalmol 55:36-41, 1956.Crossref 10. Shulman JD, et al: A simple technique for the biochemical diagnosis of cystinosis . J Pediatr 76:289-292, 1970.Crossref 11. Pearse AGE: Histochemistry Theoretical and Applied , ed 3. Boston, Little Brown & Co, 1968. 12. Wong VG, et al: Alterations of pigment epithelium in cystinosis . Arch Ophthalmol 77:361-369, 1967.Crossref 13. François J, Coppieters R, Evens L: Cystinosis: A clinical and pathologic study . Am J Ophthalmol 73:643-650, 1972. 14. Mahoney CP, et al: Renal transplantation for childhood cystinosis . N Engl J Med 283:397-398, 1970.Crossref 15. Schulman JD, Bradley KH: Cystinosis selective induction of vacuolation in fibrioblasts by L-cysteine-D-penicillamine disulfide . Science 169:595-596, 1970.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Adolescent Cystinosis: A Case Presentation and Review of the Recent Literature

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Publisher
American Medical Association
Copyright
Copyright © 1974 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1974.01010010273023
Publisher site
See Article on Publisher Site

Abstract

Abstract Cystinosis, being a rare metabolic disease, has been sporadically described in the literature. The classification, histopathological findings, and treatment of this disease are often confusing if not contradictory. This report describes a case of "adolescent" cystinosis with an attempt to clarify the classification, clinical histopathological findings, and treatment of this entity. References 1. Goldman H, et al: Adolescent cystinosis: Comparisons with infantile and adult forms . Pediatrics 47:979-988, 1971. 2. Seegmiller JE, et al: Cystinosis . Ann Intern Med 68:883-905, 1968.Crossref 3. Bickel H, et al: Cystine storage disease with aminoaciduria and dwarfism (Lignac-Fancon syndrome) . Acta Paediatr Scand 42( (suppl 90) ):9-15, 1952.Crossref 4. Cogan DG, et al: Cystinosis in an adult . JAMA 164:394-396, 1957.Crossref 5. Lietman PS, et al: Adult cystinosis—a benign disorder . J Med 40:511-514, 1966.Crossref 6. Brubaker RF, et al: Benign cystinosis; The clinical, biochemical, and morphological findings in a family with two affected siblings . Am J Med 49:546-550, 1970.Crossref 7. Spear GS, et al: Polykaryocytosis of the visceral glomerular epithelium in cystinosis with description of an unusual clinical variant . Johns Hopkins Med J 129:83-99, 1971. 8. Duke-Elder S, Leigh AG: System of Ophthalmology, Disease of the Outer Eye . St. Louis, CV Mosby Co, 1965, vol 8. 9. Cogan DG, et al: Ocular manifestations of systemic cystinosis . Arch Ophthalmol 55:36-41, 1956.Crossref 10. Shulman JD, et al: A simple technique for the biochemical diagnosis of cystinosis . J Pediatr 76:289-292, 1970.Crossref 11. Pearse AGE: Histochemistry Theoretical and Applied , ed 3. Boston, Little Brown & Co, 1968. 12. Wong VG, et al: Alterations of pigment epithelium in cystinosis . Arch Ophthalmol 77:361-369, 1967.Crossref 13. François J, Coppieters R, Evens L: Cystinosis: A clinical and pathologic study . Am J Ophthalmol 73:643-650, 1972. 14. Mahoney CP, et al: Renal transplantation for childhood cystinosis . N Engl J Med 283:397-398, 1970.Crossref 15. Schulman JD, Bradley KH: Cystinosis selective induction of vacuolation in fibrioblasts by L-cysteine-D-penicillamine disulfide . Science 169:595-596, 1970.Crossref

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Sep 1, 1974

References