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Pediatric Nephrology

, Volume 21, Issue 6, pp 763–765 | Cite as

Severe lactic acidosis and nephrolithiasis in an infant—etiology?: Answer

  • Ayfer Gür Güven
  • Mustafa KoyunEmail author
  • Reha Artan
  • Oğuz Dursun
  • Yunus Emre Baysal
  • Sema Akman
Clinical Quiz
  • 59 Downloads

Answers

  1. 1.

    Because of high anion gap, high levels of serum lactic acid, uric acid, triglyceride and cholesterol, together with prominent hepatomegaly, in addition to similar history of kindred; type 1 glycogen storage disease (GSD) (glucose 6-phosphatase deficiency) was suspected [1, 2]. Also, recurrent hypoglycemic attacks were observed later on.

     
  2. 2.

    A liver biopsy was performed which revealed macrovesicular fatty changes and excessive cytoplasmic glycogen stains with periodic acid–Schiff (Fig. 1) that was readily digested by diastase. Although liver material was sent to another center for enzymatic investigation, inappropriate conditions on transportation precluded suitable examination of the material. Despite this lack of information, the most likely diagnosis was GSD type 1 [3].

     
  3. 3.

    Urolithiasis may occur in patients with GSD type 1. Nephrocalcinosis, multiple calcium oxalate stones, hypercalciuria and hypocitraturia have been reported [4]. Uric acid stones may also be seen in...

Keywords

Acidosis Nephrolithiasis Glycogen storage disease 

References

  1. 1.
    Chen Y (2004) Glycogen storage diseases. In: Behrman RE, Kliegman RM, Jenson HB (eds) Textbook of pediatrics, 17th edn. WB Saunders, Philidelphia, PA, pp 469–475Google Scholar
  2. 2.
    Greenbaum LA (2004) Pathophysiology of body fluids and fluid therapy. In: Behrman RE, Kliegman RM, Jenson HB (eds) Textbook of pediatrics, 17th edn. WB Saunders, Philidelphia, PA, pp 191–252Google Scholar
  3. 3.
    Horslen S (2004) Genetic and metabolic disorders. I. Carbohydrate metabolism. In: Walker WA, Goulet O, Kleinman RE, Sherman PM, Shneider BL, Sanderson IR (eds) Pediatric gastrointestinal disease, volume II, 4th edn. Marcel Decker, New York, pp 1257–1274Google Scholar
  4. 4.
    Restaino I, Kaplan BS, Stanley C, Baker L (1993) Nephrolithiasis, hypocitraturia and a distal renal tubular acidification defect in type 1 glycogen storage disease. J Pediatr 122:392–396CrossRefGoogle Scholar
  5. 5.
    Hulton SA (2001) Evaluation of urinary tract calculi in children. Arch Dis Child 84:320–323CrossRefGoogle Scholar
  6. 6.
    Chen Y (2004) Defects in galactose metabolism. In: Behrman RE, Kliegman RM, Jenson HB (eds) Textbook of pediatrics, 17th edn. WB Saunders, Philidelphia, PA, pp 476–480Google Scholar
  7. 7.
    Ames RP (1986) The effects of antihypertensive drugs on serum lipids and lipoproteins, I. Diuretics. Drugs 32:260–278CrossRefGoogle Scholar
  8. 8.
    Simöes A, Domingos F, Fortes A, Prata MM (2001) Type 1 glycogen storage disease and recurrent calcium nephrolithiasis. Nephrol Dial Transplant 16:1277–1279CrossRefGoogle Scholar
  9. 9.
    Reitsma-Bierens WC (1993) Renal complications in glycogen storage disease type 1. Eur J Pediatr 152(Suppl 1):S60–S62CrossRefGoogle Scholar
  10. 10.
    Chen YT, Coleman RA, Scheinman JI, Kolbeck PC, Sidbury JB (1988) Renal disease in type 1 glycogen storage disease. New Engl J Med 318:7–11CrossRefGoogle Scholar
  11. 11.
    Chen YT (1991) Type 1 glycogen storage disease: kidney involvement, pathogenesis and its treatment. Pediatr Nephrol 5:71–76CrossRefGoogle Scholar

Copyright information

© IPNA 2006 2006

Authors and Affiliations

  • Ayfer Gür Güven
    • 1
  • Mustafa Koyun
    • 1
    • 2
    Email author
  • Reha Artan
    • 1
  • Oğuz Dursun
    • 1
  • Yunus Emre Baysal
    • 1
  • Sema Akman
    • 1
  1. 1.Departments of Pediatric Nephrology and Pediatric GastroenterologyAkdeniz University, School of MedicineAntalyaTurkey
  2. 2.Department of Pediatric NephrologyAkdeniz University Medical FacultyAntalyaTurkey

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