P.61Continuous renal replacement therapy in children with mitochondrial diseases

Abstract

Mitochondrial diseases with defective oxidative phosphorylation and resultant decreased energy production put the patients at risk for metabolic decompensation or critically ill condition such as septic shock or renal failure with intercurrent illness. We aimed to review our experience of pediatric patients with mitochondrial diseases who received renal replacement therapy (RRT) via continuous veno-venous hemofiltration (CVVHF). Clinical history and laboratory data were retrospectively reviewed. We recruited total 11 patients, 3 male and 8 female who received total 15 RRT courses, at age 7.3±6.2 years with mean duration of 11±10.3 days. 2 mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes patients, 3 Leigh syndrome, 6 mitochondrial respiratory enzyme 1 deficiency and 1 unspecified mitochondrial disease patient were included. Reasons for RRT were severe uncontrolled lactic acidosis in 6/15 (40%), acute renal failure for various reasons in 6/15 (40%) and aggravation of known end stage renal disease (ESRD) in 3/15 (20%). 8/11 (72.7%) expired during the RRT courses, all from multiorgan failure. Only 3/11 (27.3%) survived, but 1 died later due to separate respiratory failure event. 1 Leigh syndrome patient received RRT at age 6.2 months, due to severe lactic acidosis 2 days after starting ketogenic diet to treat intractable seizures, was relieved with 1 day RRT and currently alive at age 6.7 years. Other survivor was unspecified mitochondrial disease patient who received 3 courses of RRT at age 4.0, 4.4 and 5.9 years, due to 2 times of known ESRD aggravation and 1 panperitonitis event, and currently alive at age 12.4 years on intermittent hemodialysis. Even though mortality rate was high and RRT via CVVHF is an invasive procedure with risk, considering fast progression of critically ill condition in these patients not compensated by routine treatment, CVVHF could be used as a treatment option and possibly benefit some mitochondrial disease patients.