CONTINUOUS VENOVENOUS HEMOFILTRATION IN THE ACUTE TREATMENT OF INBORN-ERRORS OF METABOLISM

The accumulation of toxic metabolites in children with inborn errors o f metabolism may cause acute metabolic crises and result in long-term neurological dysfunction or death. Peritoneal dialysis often provides insufficient clearance to protect against these complications, while i ntermittent haemodialysis cannot prevent reaccumulation of metabolites between dialysis sessions. We describe the use of continuous venoveno us haemofiltration (CVVH) or haemodiafiltration (CVVHD) in three infan ts with maple syrup urine disease (MSUD) and one child with carbamyl p hosphate synthetase (CPS) deficiency. AU children with MSUD had a sati sfactory reduction in branched-chain amino acids within 24 h of onset of haemofiltration, and are now neurologically normal. The child with CPS deficiency had an ammonia level of <100 mu mol/l within 24 h of on set of therapy, but died 3 days later from unrelated cardiovascular co mplications. Complications of the therapy included the clotting of one haemofilter and the replacement of two vascular access catheters per patient on average per therapy. Two patients required blood transfusio n. We report the successful use of CVVH and CVVHD in the acute managem ent of metabolic crises associated with inborn errors of metabolism, a nd believe that these may be the optimal techniques for the acute clea rance of toxic metabolites.