[Skip to Navigation]
January 1966

Hereditary Hyperoxaluria: Study of a Family

Author Affiliations

From the departments of pathology (Dr. Witzleben) and urology (Dr. Elliott), University of California Medical School, San Francisco, and Department of Pathology, Children's Hospital Medical Center of Northern California, Oakland, Calif (Dr. Witzleben).

Am J Dis Child. 1966;111(1):56-58. doi:10.1001/archpedi.1966.02090040092008

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