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.

Update on Oxalate Crystal Disease

“…X-ray imaging reveals fractures, pseudofractures 45 , sclerosis, cystic bone changes, subperiosteal resorption adjacent to oxalate deposits 48, 49 , dense metaphyseal bands 50 and increased bone density 51 (see Figure 1). Calcium oxalate has a tendency to crystallize in previously damaged joints, such as distal and proximal interphalangeal joints involved in osteoarthritis, thus presenting as soft tissue calcification about the degenerated joint 47 .…”

Treatment of Nongout Joint Deposition Diseases: An Update

“…Oxalosis is responsible for bone pain and pathological fractures whereas joint involvement shows acute arthritis (especially of the hands) similar to other crystal-induced joint flares [11, 51, 52] but also tenosynovitis of the feet.…”

Diagnostic tardif d’une hyperoxalurie primitive au stade d’insuffisance rénale chronique terminale avec hypoparathyroïdie sévère

“…Les lésions osseuses observées au cours de l'oxalose sont liées à la réaction inflammatoire induite par les cristaux d´oxalate qui provoque la résorption osseuse. Des fractures peuvent se produire spontanément dans ces zones de faiblesse [ 6 ]. Certains signes radiologiques sont caractéristiques de l'oxalose: bandes métaphysaires denses, ostéocondensation des vertèbres.…”