Combined Liver-Kidney Transplantation andF o l l o w - U p in Primary Hyperoxaluria Treatment: Report of Three Cases S. Kavukçu, M. Türkmen, A. Soylu, B. Kasap, Y. Öztürk, S. Karademir, S. Bora, I ˙ . Astarcıog˘ lu, and H. Gülay ABSTRACT Introduction. Primaryhyperoxaluria type-1 (PH1) is an autosomal recessive disorder caused by impaired activity of the hepatic peroxisomal alanine-glyoxilate aminotransfer- ase, which leads to end-stage renaldisease (ESRD) and requires combined liver-kidney transplantation (CLKT). Herein,we have reported 3 children diagnosed with PH1 who received CLKT. Case 1. A 4.5-year-old boy with an elderbrother diagnosed with PH1 wasdiagnosed during family screening when thesonography 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 5.5years. Case 2. A 7-year-old boy was admitted withpolyuria, polydypsia, andstomach painwith renal stones on sonography. PD wasinstituted whenserum creatinine and BUN levels were measured ashigh values. At the age of 10, CKLT was performed fromhismother. His liverandrenalfunction tests are well at 14 months afterCKLT. Case 3. A 2.5-year-old girl hadattacks of darkurine without any pain; renal stones were imaged on sonography. Shewas diagnosed withPH1 andoperated on several times dueto obstruction. Shereceived peritoneal dialysis anda 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 at1.5 years after inititation of HD. Conclusion. Herein,wehave presented the favorable clinical outcomes of patients with CKLT to indicate the validity of thistreatment choice for PH1. P RIMARY hyperoxaluria type-1 (PH1) is an autosomal recessive disorder caused bythefunctional deficiency of theliver-specific peroxisomal enzyme alanine:glyoxylate ami- notransferase (AGT). 1 The deficiency of AGT results in glyoxylate accumulation and subsequent overproduction of oxalate and glycolate. Hyperoxaluria, nephrocalcinosis, and calcium oxalate urolithiasis are the hallmarks of PH1; ulti- mately, renal failure occurs. 2,3 Different from themany other disorders leading to end-stage renalfailure(ESRF), renal transplantation alonecannot achieve long-term survival in PH1. 4 – 6 Because themain problem is theenzyme deficiency, replacement of theenzyme-deficient organ in addition to the damaged target organis mandatory. Therefore, combined liver-kidney transplantation (CLKT) isthe treatment of choice in PH1. 6,7 The recent long-term results of CLKT in children with PH1 are encouraging, but the experience in children, especially young infants,i s limited. We have reported herein 3 children with PH1, 2 of whom received CLKT from living donors while thethirdreceived CLKT froma cadav- eric donor in another center in Europe and then a second From the Division of Nephrology (S.K., M.T., A.S.), Division of Gastroenterology and Metabolism (Y.Ö.), Department of Pediat- rics and Department of General Surgery (S.K., S.B., I ˙ .A., H.G.), Dokuz EylülUniversity, I ˙ zmir, Turkey. Address reprintrequests to Salih Kavukc¸ u, MD, Mithatpas¸ a Cad. 665/4, Küçükyalı, 35280, I ˙ zmir, Turkey. E-mail: s.kavukcu@ deu.edu.tr 0041-1345/08/$–see front matter © 2008 by Elsevier Inc. All rights reserved. doi:10.1016/j.transproceed.2007.11.003 360 Park Avenue South, New York, NY 10010-1710 316 Transplantation Proceedings, 40, 316 –319 (2008)