Skeletal features of primary hyperoxaluria type 1, revisited

Abstract

Purpose The purpose of this study was to describe the skeletal manifestations of primary hyperoxaluria type 1 (PH1), the most common of the primary hyperoxalurias. Methods We clinically and radiographically reviewed 12 consecutive patients diagnosed with PH1, aged between 2 and 17 years. All patients had evidence of some type of renal involvement, 4 of whom were at end-stage renal disease (ESRD) and were under dialysis. Results The main symptom was skeletal pain and was present only in the 4 severely involved patients and appeared during the second year of dialysis. The 2 most severely involved patients had evidence of pathological fractures. Radiological signs were present in patients with or without symptoms. These radiological signs were of two distinct types: those almost specific of oxalosis, such as dense and radiolucent metaphyseal bands and vertebral osteocondensations, which are found mainly in the severely involved individuals, and those less specific, such as signs of renal osteodystrophy, which are also found in less severely involved patients. Interestingly, our study revealed the presence of spondylolysis in 25% of cases. This latter finding is unique and has not previously been reported in the literature. Conclusions The skeletal manifestations of PH1 include specific and less specific radiological signs, with some patients being asymptomatic, and others presenting with bone pain and pathological fractures, as well as spondylolysis.