THIS REPORT describes two cases of hereditary or "primary" hyperoxaluria in siblings, one of which was unusual in that neither nephrolithiasis nor nephrocalcinosis could be clearly demonstrated radiologically. Urinary oxalate excretion measurements were made in three generations of the affected family, and the results are reported.
Report of Cases
Case 1.—A 16-month-old boy was seen because of vomiting for nine months and failure to thrive. The child was found to have a normochromic normocytic anemia, leukopenia with an absolute neutropenia, low urine specific gravity, slight but definite albuminuria, and 10-12 WBC per high power field. Intravenous urography showed poor concentration of the dye in the kidneys but no definite evidence of nephrolithiasis or nephrocalcinosis. The child was suspected of having pyelonephritis, although urinary cultures were consistently negative. Over the next three months the child's blood urea nitrogen increased (to 160 mg/100 ml), hyperphosphaturia developed, and he demonstrated a persistent inability
WITZLEBEN CL, ELLIOTT JS. Hereditary Hyperoxaluria: Study of a Family. Am J Dis Child. 1966;111(1):56–58. doi:10.1001/archpedi.1966.02090040092008
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