Clinical Manifestations of Primary

Primary hyperoxaluria is characterized during life by a continuous urinary oxalate excretion level of about 100-400 mg. (expressed as (COOH)2.2H20) per 24 hours as opposed to the normal value of less than 45 mg. per 24 hours. Patients with this disease usually present in early childhood with multiple bilateral renal or ureteric calculi which increase rapidly in size and are composed wholly or predominantly of calcium oxalate. Nephrocalcinosis, recurrent attacks of pyelonephritis and hypertensive damage destroy the renal parenchyma and the patients usually die from renal failure later in childhood. Descriptions of cases in which the diagnosis was confirmed chemically during life and which conformed to this clinical picture have been published byNewns and Black (1953), Aponte and Fetter (1954), Archer, Dormer, Scowen and Watts (1957), Godwin, Fowler, Dempsey and Henneman (1958) and Hodgkinson (1958). The characteristic post-mortem findings are widespread destruction of the renal parenchyma by aggregates of calcium oxalate crystals, and similar deposits in the tunicae mediae of the small muscular arteries and arterioles, the myocardium, and the testis (especially the rete testis) in association with the bone trabeculae and at the growing ends of the long bones (Scowen, Stansfeld and Watts, 1959). The term oxalosis (Dunn, 1955) conveniently describes this condition of disseminated extra-renal calcium oxalate deposits. Mulloy and Knutti (1951), Neiman, Rauber, Pierson and Gentin (1957) and Katzuni and Sandbank (1959) reported cases of infants who died apparently from renal failure at the age of a few months and in whom the findings of calcium oxalate nephrocalcinosis without stones, and of oxalosis also in Katzuni and Sandbank's (1959) case, suggest that they may have been cases of primary hyperoxaluria in which the disease followed an unusually fulminating course. Zollinger and Rosenmund (1952), Lund and Reske-Nielsen (1956) and Oigaard and Soderhjelm (1957) describe the post-mortem findings in