Crippling bone disease in a 15-year-old girl treated by haemodialysis

Case history Born in 1973, this 15-year-old girl was evaluated for kidney transplantation (KTx) in May 1988. A long history of urolithiasis started at the age of 6 months. At age 11 years, she was admitted for regular haemo-dialysis and submitted to binephrectomy 6 months later. Microscopic examination of the kidneys showed massive calcium oxalate deposition. After 3 years on dialysis, the patient developed increasing proximal bone pain (hips, shoulders, knees, and lumbar spine). At 15 years, walking and standing were impossible and she soon became bedridden. Intact PTH serum levels had persistently been normal since the initiation of dialyses. On admission, radiological survey of the skeleton demonstrated widespread increase in bone density with coarsening of the trabecular pattern (Figures 1A and 2A). The usual changes of hyperparathyroidism as well as soft tissue calcifications were lacking. The pelvis (Figure 1A) displayed bilateral fractures of the femoral neck, and similar lesions were also present in the upper end of both humeri. Metaphyses of the tubular bones (Figure 2A) showed a wide transversal translucent band, with two thin transversal radiodense lines separating the clear band from the diaphysis and from the growth plate. Typical aspects of 'bone in bone' were clearly visible. Iliac crest biopsy (Figure 3A) demonstrated irregularly woven and severely lacerated bone structure with numerous broken trabeculae and enlarged haversian system. Large areas of bone marrow were massively invaded with granulomata. Each granuloma consisted of numerous multinucleated macrophagic giant cells and was centered on a large oxalate crystal rosette-shaped edifice. Granulomata were actually disrupting bone trabeculae in some places. Resorption lacunae were present at some distance from granulomata. Severe osteomalacia was demonstrated by the abundance of unmineralised osteoid tissue. Predialytic plasma oxalate levels ranged from 120 to 150 umol/1 (normal: 1-3 umol/1; usual dialysis population: 10-70 umol/1). The diagnosis of primary hyperoxaluria type 1 (PHI) was strongly suggested by the long history of urolithiasis, the extremely high plasma oxalate levels and the massive deposition • of oxalate in kidney and