-transparent.png){kind=logo}
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.
N Illum, and
L Lavard, and
C J Danpure, and
T Horn, and
H AErenlund Jensen, and
F Skovby
August 1997,
Pediatric transplantation,
N Illum, and
L Lavard, and
C J Danpure, and
T Horn, and
H AErenlund Jensen, and
F Skovby
January 1998,
Journal of nephrology,
N Illum, and
L Lavard, and
C J Danpure, and
T Horn, and
H AErenlund Jensen, and
F Skovby
July 1996,
Prenatal diagnosis,
N Illum, and
L Lavard, and
C J Danpure, and
T Horn, and
H AErenlund Jensen, and
F Skovby
January 1989,
Journal of inherited metabolic disease,
N Illum, and
L Lavard, and
C J Danpure, and
T Horn, and
H AErenlund Jensen, and
F Skovby
November 1986,
Lancet (London, England),
N Illum, and
L Lavard, and
C J Danpure, and
T Horn, and
H AErenlund Jensen, and
F Skovby
February 1988,
Lancet (London, England),
N Illum, and
L Lavard, and
C J Danpure, and
T Horn, and
H AErenlund Jensen, and
F Skovby
August 2023,
Pediatric nephrology (Berlin, Germany),
N Illum, and
L Lavard, and
C J Danpure, and
T Horn, and
H AErenlund Jensen, and
F Skovby
April 1989,
Prenatal diagnosis,
N Illum, and
L Lavard, and
C J Danpure, and
T Horn, and
H AErenlund Jensen, and
F Skovby
October 1982,
Radiology,
N Illum, and
L Lavard, and
C J Danpure, and
T Horn, and
H AErenlund Jensen, and
F Skovby
August 1983,
Radiology,
