Title:Late Presentation of Primary Oxalosis, Microcrystalline Arthropathy, and
Tumoral Calcinosis: A Case Report and a Literature Review
Volume: 20
Issue: 4
Author(s): Sanda Mrabet*Mohamed BenHmida
Affiliation:
- Department of Nephrology, Dialysis, and Transplantation, Sahloul University Hospital, Sousse, Tunisia
Keywords:
Primary hyperoxaluria, calcinosis, dialysis, arthritis, synovial fluid, phosphocalcic disorders, hemodialysis.
Abstract:
Background: Primary hyperoxaluria consists of a group of inherited disorders with enzymatic
defects in the glyoxylate pathway, leading to decreased oxalate metabolism. The resulting
oxalic deposition is specifically responsible for kidney disease and joint disease. Neonatal oxalosis
is the most severe form of primary hyperoxia type 1, with the onset of end-stage renal disease
in childhood.
Case Presentation: A 55-year-old hemodialysis man was referred to Nephrology because of inflammatory
polyarthralgia and periarticular swelling evolving for six months. He had been on hemodialysis
for six years for end-stage chronic renal failure, diagnosed at the same time as primary
hyperoxaluria. Radiological investigation showed a rugby jersey appearance on the lumbar spine,
budding calcium tone opacities next to large joints and clavicles, vascular calcifications and tumoral
calcinosis. The synovial fluid contained a few cells with polymorphic intracellular crystals. We
ruled out hyperparathyroidism, hypoparathyroidism, and related phosphocalcic disorders, and we
retained arthropathy and tumoral calcinosis secondary to primary hyperoxaliuria. The patient also
had congestive heart failure. Despite intensification of hemodialysis, he did not improve and died
at the age of 56 in the context of cachexia.
Conclusion: This rare case documents the possible occurrence of late clinical presentation and
long survival in primary oxalosis with extra renal complications.
