Primary Hyperoxaluria Diagnosed Late in Systemic Oxalosis Stage

Primary Hyperoxaluria Diagnosed Late in Systemic Oxalosis Stage

Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism, characterized by an excess of oxalate. Renal manifestations can range from occasional kidney stones, nephrolithiasis and recurrent nephrocalcinosis to end-stage renal disease (ESRD) and systemic oxalosis. We report the case of a 32-year-old man, referred to our department for the management of bone pain. His parents were first degree cousins. The patient had a history of recurrent urolithiasis whose spectrophotometric study revealed an oxalocalcic lithiasis. He was on chronic hemodialysis program for the last 4 years with a presumed diagnosis of ESRD due to tubulo intersticiel nephropathy. He had diffuse bone pain for the last 8 months, more and more disabling and deforming. Clinical examination found bone signs such as thoracic deformity, bone pain on the palpation of the large joints and spine, waddling walk, hepatosplenomegaly and livedo reticularis. The assessment objectified multiple vertebral and sacroiliac osteolytic lesions and total cortical calcifications of both kidneys, normochromic anemia at 7.7 g / dl with a ferritinemia at 1194, inflammatory syndrome with C reactive protein (CRP) at 50 mg/l, normal calcemia at 90 mg / l, hypoparathyroidism at 105 μg /ml, hypothyroidism and bone biopsy revealed deposit of calcium oxalate crystals and crystal granulomas. In front of the consanguinity field, oxalocalcic repetitive lithiasis, nephrocalcinosis and the organic infiltration diffused by oxalate crystals, we concluded to systemic oxalosis. Pyridoxine hydrochloride treatment was combined to depleting dialysis while waiting for a potential liver and kidney donor.


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