Transplantation procedures in children with primary hyperoxaluria type 1: outcome and longitudinal growth.

[primary hyperoxaluria type 1]

Cure of the metabolic defect in primary hyperoxaluria type 1 (PH 1 ) is possible with liver transplantation (LTx ). Preemptive LTx (PLTx ) was promoted to prevent chronic kidney disease due to nephrocalcinosis and urolithiasis . However , timing of this procedure is difficult in view of the heterogeneity of PH 1 and effective conservative treatment . Combined liver -kidney transplantation (LKTx ) is able to cure metabolic defect and replace renal function at the same time and is effective and indicated for patients with or approaching end-stage renal disease (ESRD ). Sometimes a sequential approach for LKTx (first liver , then kidney ) has been recommended .We report on 13 patients with PH 1 since 1995 who underwent transplantation procedures in our center for PH 1 at a median age of 4 .7 (range 1 .4 -8 .9 ) years .The first two patients , planned for a sequential strategy , died early after LTx because of infectious complications . Four patients underwent PLTx at a median glomerular filtration rate of 65 (range 27 -98 ) mL /min /1 .73 m /day (Hoppe et al ., Pediatr Nephrol 1996 ; 10 : 488 ), and three patients still have sufficient residual renal function after a follow-up of median 11 .6 years . Seven patients with ESRD received a combined LKTx , including four with infantile oxalosis , and three weighing less than 10 kg . There was no mortality and catch-up growth was observed in most patients .In summary and conclusion , transplantation procedures are challenging in PH 1 , but our results including growth data are encouraging . PLTx remains an option despite the difficulties in timing the procedure . LKTx is indicated for patients with ESRD and is possible even in patients with infantile oxalosis and may improve longitudinal growth .

Diseases
Validation

Diseases presenting "nephrocalcinosis" symptom

cystinuria

familial hypocalciuric hypercalcemia

primary hyperoxaluria type 1

This symptom has already been validated