Primary hyperoxaluria: an important cause of renal failure in infancy.
All 25 infants with primary hyperoxaluria type I (PH) so far reported in detail (including one own observation) presented in renal failure (RF) whereas urolithiasis has conspiciously been absent. Diagnosis of PH was often delayed due to nonspecific symptoms of RF: Vomiting, anemia and severe metabolic acidosis. However, demonstration of increased renal echodensity at ultrasound examination should allow early diagnosis. A flecked retina has been noted in several infants. In contrast, our patient had black retinal pigmentations which have only once been reported in PH. Prognosis in untreated patients has so far been poor: 67% died within the first 6 months of life. It is likely that early diagnosis and treatment will improve prognosis in the future.
D001847:Bone Diseases / Q000209:etiology; D002675:Child, Preschool; D006016:Glycolates / Q000652:urine; D006801:Humans; D007223:Infant; D007676:Kidney Failure, Chronic / Q000209:etiology* / Q000628:therapy; D008297:Male; D010070:Oxalates / Q000652:urine*; D019815:Oxalic Acid; D011379:Prognosis; D012164:Retinal Diseases / Q000209:etiology
D006016:Glycolates; D010070:Oxalates; C031149:glycolic acid; D019815:Oxalic Acid