OBSERVATIONS ON THE POSSIBLE GENETIC BASIS OF PRIMARY HYPEROXALURIA

Abstract

Summary Primary hyperoxaluria has a characteristic natural history and is delineated biochemically by a continuous high urinary oxalate excretion. No abnormally high level of urinary oxalate has been discovered among the sibs, parents, first cousins, uncles and aunts, and more distant relatives of three proven cases of the condition. Among the deceased relatives a history suggesting primary hyperoxaluria was obtained only in the case of one sib of one of the propositi. There was no history of consanguinity in any of the families. The bearing of the findings and of the scanty relevant data in the literature on the postulated hereditary basis of the condition is briefly discussed. We are indebted to Dr G. H. Newns for his help in tracing Family 3, and to Prof. M. L. Rosenheim and Dr R. E. Bonham‐Carter for their permission to study the family which was originally mentioned by Myers (1957). Dr H. Harris kindly read through our manuscript and made a number of valuable suggestions. We are also pleased to acknowledge the assistance of our Senior Technician, Mr. L. Rawlings.