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Region Hovedstaden - en del af Københavns Universitetshospital
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Primary hyperoxaluria type 1: clinical manifestations in infancy and prenatal diagnosis.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskning

  • N Illum
  • L Lavard
  • C J Danpure
  • T Horn
  • H AErenlund Jensen
  • F Skovby
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A 9-month-old Pakistani boy of consanguineous parents presented with uraemia preceded by pyuria from 5 weeks of age. He had no history of renal calculi or macroscopic haematuria. Renal biopsy revealed severe calcium oxalate deposition in the tubuli and fibrosis of the interstitial tissue. Liver biopsy demonstrated complete absence of alanine: glyoxylate aminotransferase catalytic activity and immunoreactive protein compatible with a diagnosis of primary hyperoxaluria type 1. He died at the age of 11 months, just before liver transplantation was made possible. Fetal liver biopsy in the mother's subsequent pregnancy showed normal enzymatic activity. Early detection and early replacement of the missing enzyme by liver transplantation are considered to be crucial for the survival of severely affected infants with the acute neonatal form of primary hyperoxaluria type 1. Persistent pyuria could be an early sign of renal damage secondary to accumulation of oxalate crystals.
Bidragets oversatte titelPrimary hyperoxaluria type 1: clinical manifestations in infancy and prenatal diagnosis.
OriginalsprogEngelsk
TidsskriftChild Nephrology and Urology
Vol/bind12
Udgave nummer4
Sider (fra-til)225-227
Antal sider3
ISSN1012-6694
StatusUdgivet - 1992

ID: 32498163