Further Observations on the Genetic Basis of Primary Hyperoxaluria

Abstract

Summary Five previously unreported families in which cases of primary hyperoxaluria have occurred have been investigated to determine whether an hereditary pattern is apparent in this disease. The occurrence of the condition in sibs in the absence of any detectable abnormality in the parents has been proved in two of these families, and suggests a recessive mode of inheritance. In one family out of a total of eight which have now been reported from our laboratories the parents of the propositus are first cousins. The sex‐incidence of the disease appears to be approximately equal.

Investigation of possible effect o f calcium carbimide on urinary oxalate excretion in primary hyperoxaluria.

“…Williams, Koch, and Smith (1967) have also suggested that primary hyperoxaluria is a heterogeneous condition on the basis of their observation that glyceric aciduria occurs in some patients with the disease but not in others. Shepard, Lee, and Krebs (1960) reported a family in which the disease appeared to have a dominant pattern of inheritance as opposed to the usual recessive pattern (Scowen, Watts, and Hall, 1959), suggesting genetic as well as biochemical heterogeneity in the disease.…”

The metabolic error in primary hyperoxaluria.

“…The most extensive surveys of urinary oxalate excretion by the relatives of patients (Archer, Dormer, Scowen, and Watts, 1958b;Scowen, Watts, and Hall, 1959) showed abnormally high values in some sibs, but never in parents or other relatives. Likewise, no parent has had a medical history typical of primary hyperoxaluria, though parents or other close relatives may have had renal stones in middle age.…”