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Fanconi's Syndrome With Hepatorenal Glycogenosis Associated With Phosphorylase b Kinase Deficiency

Fanconi's Syndrome With Hepatorenal Glycogenosis Associated With Phosphorylase b Kinase Deficiency Abstract • Objective. —To describe two patients with Fanconi's nephropathy secondary to glycogen storage disease and speculate on the possible etiology. Design. —Convenience sample. Setting. —Tertiary care, referral center. Patients. —Two related children referred for failure to thrive, rickets, and hepatomegaly. Intervention. —Dietary and therapeutic measures for rickets and renal tubular acidosis. Measurements and Results. —The main laboratory findings were fasting hypoglycemia and massive glucosuria, with evidence of multiple renal tubular dysfunction characteristic of the Fanconi syndrome. Liver and kidney biopsy specimens were consistent with glycogen storage disease. Enzymatic assay of liver homogenates revealed marked deficiency of phosphorylase b kinase in one patient and absent activity in the other. Conclusion. —Phosphorylase b kinase deficiency may be causally related to hepatorenal glycogenosis with the Fanconi syndrome. More patients with this syndrome need to be studied before a definitive causal role is implicated.(AJDC. 1993;147:957-959) References 1. Fanconi G, Bickel H. Die Chronishe Aminoacidurie (Aminosaurediabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystin-brankheit . Helv Paediatr Acta . 1949;4:359-396. 2. Hug G. Defects in metabolism of carbohydrates . In: Behrman RE, Vaughan VC, Nelson WE, eds. Nelson Textbook of Pediatrics . Philadephia, Pa: WB Saunders Co; 1987:313-322. 3. Shin YS. Diagnosis of glycogen storage disease . J Inherit Metab Dis . 1990;13:419-434.Crossref 4. Manz F, Bickel H, Brodehl J, et al. Fanconi-Bickel syndrome . Pediatr Nephrol . 1987;1:509-518.Crossref 5. Rotthauwe HW, Fichsel H, Heldt HW, et al. Glykogenose der leber mit Aminoacidurie und Glucosurie . Klin Wochenschr . 1963;41:818-825.Crossref 6. Garty R, Cooper M, Tabachnick E. The Fanconi syndrome associated with hepatic glycogenosis . J Pediatr . 1974;85:821-823.Crossref 7. Benallegue A, Benabdallah S, Tabbakh E, Fenet M. Syndrome de Toni-Debre- Fanconi associe a une glycogenose: a propos d'un cas . Arch Fr Pediatr . 1971;28:566. 8. Benallegue A, Benabdallah S, Kanafani F, Glycogenose et tubulopathie de 2 cas familiaux . Arch Fr Pediatr . 1975;32:202. 9. Fellers FX, Piedrahita V, Galan EM. Pseudo-phlorizin diabetes . Pediatr Res . 1967;1:304-306. 10. Brodehl J. The Fanconi syndrome . In: Edelmann CM, ed. Pediatric Kidney Diseases . Boston, Mass: Little Brown & Co Inc; 1978:955-987. 11. Brodehl J, Gellissen KL, Hagge W. The Fanconi syndrome in hepatorenal glycogen storage disease . In: Peters G, Roch-Ramel F, eds. Progress in Nephrology . New York, NY: Springer-Verlag NY Inc; 1969:241-243. 12. Brivet M, Moatti N, Corriat A. Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome . Pediatr Res . 1983;17:157-161.Crossref 13. Belfiore F. Regulatory enzymes of metabolic pathways most involved in diabetes . In: Belfiore F. Enzyme Regulation and Metabolic Diseases . New York, NY: S Karger AG; 1980:180-191. 14. Cohen PTW, Benchell A, Cohen P. The molecular basis of skeletal muscle phosphorylase b kinase deficiency . Eur J Biochem . 1976;66:347-356.Crossref 15. Huijing F, Fernandes J. X chromosomal inheritance of liver glycogenosis with phosphorylase b kinase deficiency . Am J Hum Genet . 1969;21: 275-284. 16. Hug G, Schubert WK, Chuck G. Deficient activity of phosphorylase and accumulation of glycogen in the liver . J Clin Invest . 1969;48:704-715.Crossref 17. Lerner A, lancu TC, Bashan N, Potashnik R, Moses S. A new variant of glycogen storage disease . AJDC . 1982;136:406-410. 18. Othani Y, Matsuda T, Iwamasa T, Tamari H, Origuchi Y, Milke T. Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency . Neurology . 1982;32:833-838.Crossref 19. Eishi Y, Takemura T, Sone R, et al. Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease . Hum Pathol . 1985;16:193-197.Crossref 20. Servidei S, Metlay LA, Chodosh J, Dimauro S. Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency . J Pediatr . 1988;113:82-85.Crossref 21. Proux D, Dreyfuss JC. Phosphorylase isoenzymes in tissues: prevalence of liver type in man . Clin Chim Acta . 1973;48:167-172.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Fanconi's Syndrome With Hepatorenal Glycogenosis Associated With Phosphorylase b Kinase Deficiency

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Publisher
American Medical Association
Copyright
Copyright © 1993 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1993.02160330047016
Publisher site
See Article on Publisher Site

Abstract

Abstract • Objective. —To describe two patients with Fanconi's nephropathy secondary to glycogen storage disease and speculate on the possible etiology. Design. —Convenience sample. Setting. —Tertiary care, referral center. Patients. —Two related children referred for failure to thrive, rickets, and hepatomegaly. Intervention. —Dietary and therapeutic measures for rickets and renal tubular acidosis. Measurements and Results. —The main laboratory findings were fasting hypoglycemia and massive glucosuria, with evidence of multiple renal tubular dysfunction characteristic of the Fanconi syndrome. Liver and kidney biopsy specimens were consistent with glycogen storage disease. Enzymatic assay of liver homogenates revealed marked deficiency of phosphorylase b kinase in one patient and absent activity in the other. Conclusion. —Phosphorylase b kinase deficiency may be causally related to hepatorenal glycogenosis with the Fanconi syndrome. More patients with this syndrome need to be studied before a definitive causal role is implicated.(AJDC. 1993;147:957-959) References 1. Fanconi G, Bickel H. Die Chronishe Aminoacidurie (Aminosaurediabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystin-brankheit . Helv Paediatr Acta . 1949;4:359-396. 2. Hug G. Defects in metabolism of carbohydrates . In: Behrman RE, Vaughan VC, Nelson WE, eds. Nelson Textbook of Pediatrics . Philadephia, Pa: WB Saunders Co; 1987:313-322. 3. Shin YS. Diagnosis of glycogen storage disease . J Inherit Metab Dis . 1990;13:419-434.Crossref 4. Manz F, Bickel H, Brodehl J, et al. Fanconi-Bickel syndrome . Pediatr Nephrol . 1987;1:509-518.Crossref 5. Rotthauwe HW, Fichsel H, Heldt HW, et al. Glykogenose der leber mit Aminoacidurie und Glucosurie . Klin Wochenschr . 1963;41:818-825.Crossref 6. Garty R, Cooper M, Tabachnick E. The Fanconi syndrome associated with hepatic glycogenosis . J Pediatr . 1974;85:821-823.Crossref 7. Benallegue A, Benabdallah S, Tabbakh E, Fenet M. Syndrome de Toni-Debre- Fanconi associe a une glycogenose: a propos d'un cas . Arch Fr Pediatr . 1971;28:566. 8. Benallegue A, Benabdallah S, Kanafani F, Glycogenose et tubulopathie de 2 cas familiaux . Arch Fr Pediatr . 1975;32:202. 9. Fellers FX, Piedrahita V, Galan EM. Pseudo-phlorizin diabetes . Pediatr Res . 1967;1:304-306. 10. Brodehl J. The Fanconi syndrome . In: Edelmann CM, ed. Pediatric Kidney Diseases . Boston, Mass: Little Brown & Co Inc; 1978:955-987. 11. Brodehl J, Gellissen KL, Hagge W. The Fanconi syndrome in hepatorenal glycogen storage disease . In: Peters G, Roch-Ramel F, eds. Progress in Nephrology . New York, NY: Springer-Verlag NY Inc; 1969:241-243. 12. Brivet M, Moatti N, Corriat A. Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome . Pediatr Res . 1983;17:157-161.Crossref 13. Belfiore F. Regulatory enzymes of metabolic pathways most involved in diabetes . In: Belfiore F. Enzyme Regulation and Metabolic Diseases . New York, NY: S Karger AG; 1980:180-191. 14. Cohen PTW, Benchell A, Cohen P. The molecular basis of skeletal muscle phosphorylase b kinase deficiency . Eur J Biochem . 1976;66:347-356.Crossref 15. Huijing F, Fernandes J. X chromosomal inheritance of liver glycogenosis with phosphorylase b kinase deficiency . Am J Hum Genet . 1969;21: 275-284. 16. Hug G, Schubert WK, Chuck G. Deficient activity of phosphorylase and accumulation of glycogen in the liver . J Clin Invest . 1969;48:704-715.Crossref 17. Lerner A, lancu TC, Bashan N, Potashnik R, Moses S. A new variant of glycogen storage disease . AJDC . 1982;136:406-410. 18. Othani Y, Matsuda T, Iwamasa T, Tamari H, Origuchi Y, Milke T. Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency . Neurology . 1982;32:833-838.Crossref 19. Eishi Y, Takemura T, Sone R, et al. Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease . Hum Pathol . 1985;16:193-197.Crossref 20. Servidei S, Metlay LA, Chodosh J, Dimauro S. Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency . J Pediatr . 1988;113:82-85.Crossref 21. Proux D, Dreyfuss JC. Phosphorylase isoenzymes in tissues: prevalence of liver type in man . Clin Chim Acta . 1973;48:167-172.Crossref

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Sep 1, 1993

References