CHYLOMICRONEMIA SYNDROME DUE TO APOPROTEIN-CII DEFICIENCY

被引:0
|
作者
BEIL, FU
机构
来源
MEDIZINISCHE WELT | 1993年 / 44卷 / 12期
关键词
HYPERTRIGLYCERIDEMIA; CHYLOMICRONS; APOPROTEIN CII; PANCREATITIS;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Severe fasting hypertriglyceridemia (triglycerides >2000 mg/dl) recurrent pancreatitis, hepatosplenomegaly, eruptive xanthomas, and lipemia retinalis (chylomicronemia syndrome). Familial hyperchylomicronemia inherited as an autosomal recessive trait may be due to deficiency of apoprotein Cll which is the physiological activator of lipoprotein lipase. Homozygous patients carrying the genetic defect apoprotein Cll(Hamburg) have minimal concentrations of apoprotein Cll in hyperlipemic plasma; heterozygotes carry half normal amounts of apoprotein Cll in normolipemic plasma. The molecular defect apoprotein Cll(Hamburg) has been identified as a guanine/cytosine substitution (donor splice site mutation) in intron ll. Elevated plasma triglycerides can be lowered acutely by infusion of normal plasma (supplementation of apoprotein Cll). Long term treatment of the chylomicroneamia syndrome involves a rigid restriction of dietary fat to lower morbidity and mortality from acute pancreatitis.
引用
收藏
页码:733 / 738
页数:6
相关论文
共 50 条
  • [1] THE INTERACTIONS OF LIPOPROTEIN-LIPASE WITH HEPARIN AND APOPROTEIN-CII
    CLARKE, AR
    LUSCOMBE, M
    HOLBROOK, JJ
    THROMBOSIS AND HAEMOSTASIS, 1983, 50 (01) : 205 - 205
  • [2] CLINICAL-EVALUATION OF APOPROTEIN-CII AND APOPROTEIN-CIII IN HYPERLIPENIT, DIABETIC AND VASCULOPATHIC SUBJECTS
    FERLITO, S
    ADVANCES IN VASCULAR PATHOLOGY 1989, VOLS 1 & 2, 1989, 868 : 619 - 623
  • [3] Effect of apoprotein-CII on efficacy of chylomicron-triacylglycerol as substrate for working heart
    Wang, X
    Evans, RD
    BIOCHEMICAL SOCIETY TRANSACTIONS, 1997, 25 (04) : S677 - S677
  • [4] DECREASED VLDL APOPROTEIN-CII APOPROTEIN-CIII RATIO WITH SUPERIMPOSED CARNITINE DEFICIENCY MAY BE PATHOGENIC FACTORS OF HYPERTRIGLYCERIDEMIA IN PATIENTS ON CHRONIC-HEMODIALYSIS TREATMENT (CHT)
    WAKABAYASHI, Y
    OKUBO, M
    SHIMADA, H
    SATO, N
    MARUMO, F
    KIDNEY INTERNATIONAL, 1986, 29 (01) : 327 - 327
  • [5] DECREASED VLDL APOPROTEIN-CII APOPROTEIN-CIII RATIO MAY BE SEEN IN BOTH NORMOTRIGLYCERIDEMIC AND HYPERTRIGLYCERIDEMIC PATIENTS ON CHRONIC-HEMODIALYSIS TREATMENT
    WAKABAYASHI, Y
    OKUBO, M
    SHIMADA, H
    SATO, N
    KOIDE, A
    MARUMO, F
    NAKAMURA, H
    METABOLISM-CLINICAL AND EXPERIMENTAL, 1987, 36 (09): : 815 - 820
  • [6] Characterization of the human apoprotein CII gene promotor and its alteration in a patient with congenital apo CII deficiency
    Avci, H
    Streicher, R
    Kotzka, J
    MullerWieland, D
    Geisel, J
    Weisshaar, C
    Oette, K
    Krone, W
    CIRCULATION, 1996, 94 (08) : 1588 - 1588
  • [7] Acute edematous pancreatitis in chylomicronemia due to lipoproteinase deficiency
    Empen, K
    Otto, C
    Parhofer, KG
    Bosch, T
    Schwandt, P
    INTERNIST, 2000, 41 (10): : 1099 - 1102
  • [8] CHYLOMICRONEMIA SYNDROME DUE TO LIPOPROTEIN-LIPASE (LPL) DEFICIENCY - A POSSIBLE CAUSE OF METABOLIC EMERGENCY
    FERRARIS, S
    SPADA, M
    FERRERO, GB
    DOMPE, C
    PONZONE, A
    RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS, 1995, 21 (02): : 247 - 252
  • [9] A CASE REPORT OF HYPERTRIGLYCERIDEMIA DUE TO HETEROZYGOUS APO CII DEFICIENCY
    Al Maqbali, S. R. S.
    Fox, A.
    Daly, E.
    Boran, G.
    Rakovac, A.
    ATHEROSCLEROSIS, 2020, 315 : E204 - E204
  • [10] CHYLOMICRONEMIA SYNDROME
    CHAIT, A
    BRUNZELL, JD
    ADVANCES IN INTERNAL MEDICINE, VOL 37, 1992, 37 : 249 - 273