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Pediatric Nephrology

, Volume 7, Issue 3, pp 253–255 | Cite as

Renal cysts in the carbohydrate-deficient glycoprotein syndrome

  • Erik H. Strøm
  • Petter Strømme
  • Jostein Westvik
  • Svein J. Pedersen
Original Article

Abstract

The carbohydrate-deficient glycoprotein (CDG) syndrome is a newly described genetic disorder with autosomal recessive inheritance and multiple organ involvement. We describe five patients with the CDG syndrome who all had abnormal renal structure. In two patients autopsy disclosed multiple microcysts. A hyperechogenic pattern strongly suggesting microcysts was demonstrated in all patients that were available for ultrasound examination, while a large single cyst was also seen in one patient. Based on these findings and the reports of others, renal cysts appear to be common in the CDG syndrome.

Key words

Carbohydrate-deficient glycoprotein syndrome Renal cysts Autosomal recessive Ultrasound Autopsy 

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References

  1. 1.
    Jaeken J, Vanderschueren-Lodeweyck M, Casaer P, Snoeck L, Corbeel L, Eggermont E, Eeckels P (1980) Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH, and GH levels, partial TBG deficiency, increased serum aryl-sulphatase A and increased CSF protein: a new syndrome? Pediatr Res 14: 1791Google Scholar
  2. 2.
    Kristiansson B, Andersson M, Tonnby B, Hagberg B (1989) Disialotransferrin developmental deficiency syndrome. Arch Dis Child 64: 71–76PubMedGoogle Scholar
  3. 3.
    Jaeken J, Hagberg B, Strømme P (1991) Clinical presentation and natural course of the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand [Suppl] 375: 6–13Google Scholar
  4. 4.
    Stibler H, Jaeken J (1990) Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome. Arch Dis Child 65: 107–111PubMedGoogle Scholar
  5. 5.
    Nordborg C, Hagberg B, Kristiansson B (1991) Sural nerve pathology in the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand [Suppl] 375: 39–49Google Scholar
  6. 6.
    Strømme P, Maehlen J, Strøm EH, Torvik A (1991) Postmortem findings in two patients with the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand [Suppl] 375: 55–62Google Scholar
  7. 7.
    Harding BN, Dunger DB, Grant DB, Erdohazi M (1988) Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities J Neurol Neurosurg Psychiatry 51: 385–389PubMedGoogle Scholar
  8. 8.
    Horslen SP, Clayton PT, Harding BN, Hall NA, Keir G, Winchester B (1991) Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. Arch Dis Child 66: 1027–1032PubMedGoogle Scholar
  9. 9.
    Hayden CK Jr, Santa-Cruz FR, Amparo EG, Brouhard B, Swischuk LE, Ahrendt KD (1984) Ultrasonographic evaluation of the renal parenchyma in infancy and childhood. Radiology 152: 413–417PubMedGoogle Scholar
  10. 10.
    Haller JO, Berdon WE, Friedman AP (1982) Increased renal cortical echogenicity: a normal finding in neonates and infants. Radiology 142: 173–174PubMedGoogle Scholar
  11. 11.
    Jaeken J, Stibler H (1989) A newly recognized inherited neurological disease with carbohydrate deficient secretory glycoproteins. In: Wetterberg L (ed) Genetics of neuropsychiatric diseases. Wenner-Gren International Symposia Series, vol 51. Macmillan, London, pp 69–80Google Scholar

Copyright information

© IPNA 1993

Authors and Affiliations

  • Erik H. Strøm
    • 1
  • Petter Strømme
    • 2
  • Jostein Westvik
    • 3
  • Svein J. Pedersen
    • 4
  1. 1.Department of PathologyUllevål HospitalOsloNorway
  2. 2.Department of Paediatrics, RikshospitaletUniversity of OsloOsloNorway
  3. 3.Department of Paediatric Radiology, RikshospitaletUniversity of OsloOsloNorway
  4. 4.Department of PaediatricsHaukeland HospitalBergenNorway

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