title: A patient with adult-onset type II citrullinemia on long-term hemodialysis: reversal of clinical symptoms and brain MRI findings.
abstract: A 40-year-old woman was referred for several episodes of coma lasting from 2 hours to 2 days. She had been on maintenance hemodialysis for polycystic kidney disease for 9 months. Laboratory findings showed high serum levels of ammonia and citrulline, and a diagnosis of adult-onset type II citrullinemia was made. Multiple areas of focal brain edema were shown by magnetic resonance imaging. The clinical manifestations of coma and abnormal behavior were resolved with intensified dialysis (ie, four 5-hour sessions per week with glycerol and continuous ambulatory peritoneal dialysis). No abnormal shadow was present on follow-up magnetic resonance imaging. Such intensified dialysis therapy may be effective for adult-onset type II citrullinemia and may be applicable even in patients who do not have end-stage renal disease if liver transplant is not an option.
authors.affiliation: Third Department of Internal Medicine and Dialysis Unit, University of The Ryukyus, Okinawa, Japan. chihokun@med.u-ryukyu.ac.jp
authors.forename: Saori
authors.initials: S
authors.lastname: Oshiro
authors.forename: Tutomu
authors.initials: T
authors.lastname: Kochinda
authors.forename: Takeshi
authors.initials: T
authors.lastname: Tana
authors.forename: Masanobu
authors.initials: M
authors.lastname: Yamazato
authors.forename: Keiko
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Yukihiro
authors.initials: Y
authors.lastname: Komine
authors.forename: Hiromi
authors.initials: H
authors.lastname: Muratani
authors.forename: Takeyori
authors.initials: T
authors.lastname: Saheki
authors.forename: Kunitoshi
authors.initials: K
authors.lastname: Iseki
authors.forename: Shuichi
authors.initials: S
authors.lastname: Takishita
mesh_terms: D000328:Adult; D000641:Ammonia / Q000097:blood; D001921:Brain / Q000473:pathology; D002956:Citrulline / Q000097:blood; D020159:Citrullinemia / Q000097:blood / Q000150:complications / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D007690:Polycystic Kidney Diseases / Q000150:complications / Q000628:therapy; D006435:Renal Dialysis; D013997:Time Factors
chemical_list: D002956:Citrulline; D000641:Ammonia