Reversibility of serum NH3 level in a case of sudden onset and rapidly progressive case of type 2 citrullinemia

被引:10
作者
Ishikawa, F [1 ]
Nakamuta, M [1 ]
Kato, M [1 ]
Iwamoto, H [1 ]
Enjoji, M [1 ]
Miyata, Y [1 ]
Inoguchi, T [1 ]
Sakai, H [1 ]
Nawata, H [1 ]
机构
[1] Kyushu Univ, Grad Sch Med Sci, Dept Med & Bioregulatory Sci, Higashi Ku, Fukuoka 8128582, Japan
关键词
hemodialysis; hemodiafiltration; argininosuccinate synthetase; brain edema; citrin;
D O I
10.2169/internalmedicine.39.925
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
A 48-year-old male presented with an acute change in mental status due to a marked elevation of plasma NH, and was diagnosed with citrullinemia with amino acid analysis of blood. Hemodialysis and hemodiafiltration were performed, but serum chemical analysis did not show any improvement which led us to terminate dialysis following intensive care for 3 days. Surprisingly, NH, level had decreased by 6 days after admission, coinciding with normalization of the size of the pupils. Since spontaneous remission had never been discussed, we discuss this relatively rare, but clinically significant entity with regard to its acute phase management and its potential reversibility.
引用
收藏
页码:925 / 929
页数:5
相关论文
共 30 条
  • [1] RETROVIRAL-MEDIATED GENE-THERAPY FOR THE TREATMENT OF CITRULLINEMIA - TRANSFER AND EXPRESSION OF ARGININOSUCCINATE SYNTHETASE IN HUMAN HEMATOPOIETIC-CELLS
    DEMARQUOY, J
    [J]. EXPERIENTIA, 1993, 49 (04): : 345 - 348
  • [2] CLINICAL-APPLICATION OF ENZYME-IMMUNOASSAY IN THE ANALYSIS OF CITRULLINEMIA
    IMAMURA, Y
    KOBAYASHI, K
    YAMASHITA, T
    SAHEKI, T
    ICHIKI, H
    HASHIDA, S
    ISHIKAWA, E
    [J]. CLINICA CHIMICA ACTA, 1987, 164 (02) : 201 - 208
  • [3] Ishii A, 1992, Rinsho Shinkeigaku, V32, P853
  • [4] Kakinoki H, 1997, HUM MUTAT, V9, P250, DOI 10.1002/(SICI)1098-1004(1997)9:3<250::AID-HUMU6>3.3.CO
  • [5] 2-K
  • [6] Adult-onset type II citrullinemia: Clinical pictures before and after liver transplantation
    Kawata, A
    Suda, M
    Tanabe, H
    [J]. INTERNAL MEDICINE, 1997, 36 (06) : 408 - 412
  • [7] KOBAYASHI K, 1986, AM J HUM GENET, V38, P667
  • [8] PANCREATIC SECRETORY TRYPSIN-INHIBITOR GENE IS HIGHLY EXPRESSED IN THE LIVER OF ADULT-ONSET TYPE-II CITRULLINEMIA
    KOBAYASHI, K
    NAKATA, M
    TERAZONO, H
    SHINSATO, T
    SAHEKI, T
    [J]. FEBS LETTERS, 1995, 372 (01) : 69 - 73
  • [9] Kobayashi K, 1995, Am J Hum Genet, V56, P356
  • [10] KOBAYASHI K, 1994, AM J HUM GENET, V55, P1103