Combined liver-kidney transplantation and follow-up in primary hyperoxaluria treatment: report of three cases.

[primary hyperoxaluria type 1]

Primary hyperoxaluria type -1 (PH 1 ) is an autosomal recessive disorder caused by impaired activity of the hepatic peroxisomal alanine-glyoxilate aminotransferase , which leads to end-stage renal disease (ESRD ) and requires combined liver -kidney transplantation (CLKT ). Herein , we have reported 3 children diagnosed with PH 1 who received CLKT . CASE 1 : A 4 .5 -year -old boy with an elder brother diagnosed with PH 1 was diagnosed during family screening when the sonography showed multiple calculi . Within 5 years he experienced flank pain , hematuria attacks , and anuric phases due to obstruction and received hemodialysis (HD ) when ESRD appeared . CLKT was performed from his full-match sister at the age of 9 .5 . He is doing well at 5 .5 years . CASE 2 : A 7 -year -old boy was admitted with polyuria , polydypsia , and stomach pain with renal stones on sonography . PD was instituted when serum creatinine and BUN levels were measured as high values . At the age of 10 , CKLT was performed from his mother . His liver and renal function tests are well at 14 months after CKLT . CASE 3 : A 2 .5 -year -old girl had attacks of dark urine without any pain ; renal stones were imaged on sonography . She was diagnosed with PH 1 and operated on several times due to obstruction . She received peritoneal dialysis and a cadaveric CLKT was performed when she was 9 years old . At the age of 16 , she experienced chronic allograft nephropathy requiring HD and subsequent cadaveric donor renal transplantation at 1 .5 years after initiation of HD .H erein , we have presented the favorable clinical outcomes of patients with CKLT to indicate the validity of this treatment choice for PH 1 .