title: Adult with primary hyperoxaluria type 1 regrets not receiving preemptive liver transplantation during childhood: report of a case.
abstract: A 32-year-old male was suspected to have primary hyperoxaluria type 1 (PH1) and eventually underwent liver transplantation (LT). He was diagnosed with nephrolithiasis at 9 years of age. Right heminephrectomy was performed for a staghorn calculus. He underwent urethrotomy for urinary retention at 12 years of age. Percutaneous nephrolithotomy was performed for nephrolithiasis when he was 16 years of age. He underwent frequent extracorporeal shock wave lithotripsy for recurrent nephrolithiasis from 18 to 24 years of age. PH1 was suspected at 32 years of age, and pharmacological therapy was also initiated. He developed renal failure at 36 years of age, which was treated with intensive hemodialysis. A definitive diagnosis of PH1 was made based on a liver needle biopsy 1 month later. He received a living-donor LT at 38 years of age, and a living-donor kidney transplant from the same donor 8 months later. Though he made a good recovery, an early diagnosis and preemptive LT are important for PH1 patients.
authors.affiliation: Division of Hepato-Pancreato-Biliary, Transplant, and Pediatric Surgery, Department of Surgery, Kyoto University Hospital, 54 Shogoinkawara-cho, Sakyo-ku, Kyoto, 606-8507, Japan, horit@kuhp.kyoto-u.ac.jp.
authors.forename: Tomohide
authors.initials: T
authors.lastname: Hori
authors.forename: Toshimi
authors.initials: T
authors.lastname: Kaido
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Tamaki
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Toshimitsu
authors.forename: Kohei
authors.initials: K
authors.lastname: Ogawa
authors.forename: Shinji
authors.initials: S
authors.lastname: Uemoto
mesh_terms: D000328:Adult; D057210:Delayed Diagnosis; D004644:Emotions; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000150:complications / Q000175:diagnosis* / Q000601:surgery*; D016031:Liver Transplantation / Q000379:methods*; D019520:Living Donors; D008297:Male; D053040:Nephrolithiasis / Q000209:etiology / Q000628:therapy; D012008:Recurrence; D006435:Renal Dialysis; D051437:Renal Insufficiency / Q000209:etiology / Q000628:therapy; D012086:Reoperation; D016896:Treatment Outcome