title: Successful outcome after early combined liver and en bloc-kidney transplant in an infant with primary hyperoxaluria type 1: a case report.
abstract: PH1 is a metabolic disorder characterized by urolithiasis and the accumulation of oxalate crystals in the kidneys and other organs. Although patients often first present with renal failure, PH1 results from a deficiency of the hepatic peroxisomal enzyme AGT. Ultimately only liver transplantation will cure the underlying metabolic defect. Herein, we report the case of a three-month-old male infant diagnosed with PH and treated using a combined liver and en bloc-kidney transplant from a single donor. At the time of transplant, the patient was 11 months old and weighed 7.9 kg. He received a full size liver graft and en bloc kidneys from a two-yr-old donor. At 36 months post-transplant, the patient is steadily growing with normal renal and hepatic function. This is one of the first reports of successful liver and en bloc-kidney transplantation with abdominal compartment expansion by PTFE for the infantile form of PH1 in a high risk child before one yr of age. Prompt diagnosis and early referral to a specialized center for liver and kidney replacement offer the best chance for survival for infants with this otherwise fatal disease.
authors.affiliation: Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA 30322, USA. thomas.heffron@choa.org
authors.forename: Thomas G
authors.initials: TG
authors.lastname: Heffron
authors.forename: John
authors.initials: J
authors.lastname: Rodriguez
authors.forename: Carlos G
authors.initials: CG
authors.lastname: Fasola
authors.forename: Katherine
authors.initials: K
authors.lastname: Casper
authors.forename: Todd
authors.initials: T
authors.lastname: Pillen
authors.forename: Gregory
authors.initials: G
authors.lastname: Smallwood
authors.forename: Barry
authors.initials: B
authors.lastname: Warshaw
authors.forename: Rene
authors.initials: R
authors.lastname: Romero
authors.forename: Christian
authors.initials: C
authors.lastname: Larsen
mesh_terms: D006085:Graft Survival; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000601:surgery* / Q000628:therapy*; D007223:Infant; D007676:Kidney Failure, Chronic / Q000628:therapy; D016030:Kidney Transplantation / Q000379:methods*; D008107:Liver Diseases / Q000628:therapy; D016031:Liver Transplantation / Q000379:methods*; D008297:Male; D008953:Models, Anatomic; D016896:Treatment Outcome