Iterative fractures in type I primary hyperoxaluria. A two case report

Purpose of the study Type I primary hyperoxaluria is a rare autosomal reces sive disease linked to a deficit in an hepatic enzyme. The purpose of this study was to analyze orthopedics problems caused by type I primary hyperoxa luria before and after liver and kidney transplantation. Material and methods Two cases of children carrying this type I primary hyp eroxaluria followed up after liver kidney transplantation are presented and compared to last publications. Results Combined transplantation progressively corrected osseous lesions an d aspect of the stroma. However it did not provide protection against fract ures particularly for femoral neck fractures. Discussion In type I hyperoxaluria overproduction of calcium oxalate causes its accumulation in the whole organism and particularly in bone. Osseous f ragility favors pathological fractures. Only combined liverkidney transplan tation can save and cu re these chi Id ren. Frequency of th is fracture aft er transplantation indicates preventive plating at first pain, possibly at the same time as transplantation. Kidney transplant failure puts the patien t in a "congealed" clinical state where the bone is very rich in oxalate an d where the hemodialysis does not eliminate oxalate salts. Conclusion Type I primary hyperoxaluria is a very rare disease. Fractures a re very common even after liver and kidney transplantation and especialy fe moral neck fractures. We think that preventive plating must be done at firs t pain. We do not have any explanation for bony weakness after liver-kidney transplantation.