Sustained pyridoxine response in primary hyperoxaluria type 1 recipients of kidney alone transplant.

[primary hyperoxaluria type 1]

Combined liver kidney transplant is the preferred transplant option for most patients with primary hyperoxaluria type 1 (PH 1 ) given that it removes the hepatic source of oxalate production and improves renal allograft survival . However , PH 1 patients homozygous for the G 170 R mutation can develop normal urine oxalate levels with pyridoxine therapy and may be candidates for kidney alone transplant (KTx ). We examined the efficacy of pyridoxine therapy following KTx in five patients homozygous for G 170 R transplanted between September 1999 and July 2013 . All patients were maintained on pyridoxine posttransplant . Median age at transplant was 39 years (range 33 -67 years ). Median follow-up posttransplant was 8 .5 years (range 0 .2 -13 .9 years ). At the end of follow-up , four grafts were functioning . One graft failed 13 .9 years posttransplant due to recurrent oxalate nephropathy following an acute medical illness . After tissue oxalate stores had cleared , posttransplant urine oxalate levels were <0 .5 mmol /24 h the majority of times checked . Calcium oxalate crystals were noted in only 3 /13 allograft biopsies . This series suggests that a subgroup of PH 1 patients demonstrate sustained response to pyridoxine therapy following KTx . Therefore , pyridoxine combined with KTx should be considered for PH 1 patients with a homozygous G 170 R mutation .

Diseases
Validation

Diseases presenting "hyperoxaluria" symptom

cystinuria

neonatal adrenoleukodystrophy

primary hyperoxaluria type 1

This symptom has already been validated