hyperlipoproteinemie typ I [Hyperlipoproteinemia Type I]

tematický
21
Termíny

apolipoprotein C-II - nedostatek
Burger-Grutzova nemoc
deficit apolipoproteinu C-II
familiární deficit lipoproteinové lipázy
familiární deficit LPL
familiární hyperchylomikronemie
familiární hyperlipoproteinemie typ I
hyperchylomikronémie familiární
hyperlipoproteinémie typ I
hyperlipoproteinemie typ Ia
hyperlipoproteinemie typ Ib
hyperlipoproteinémie typ Ib
LLD
LPLD
nedostatek apolipoproteinu C-II

 

Apolipoprotein C-II Deficiency
Burger-Grutz Syndrome
C-II Anapolipoproteinemia
Chylomicronemia, Familial
Familial Fat-Induced Hypertriglyceridemia
Familial Hyperchylomicronemia
Familial Hyperlipoproteinemia Type 1
Familial Lipoprotein Lipase Deficiency
Familial LPL Deficiency
Hyperchylomicronemia, Familial
Hyperlipemia, Essential Familial
Hyperlipemia, Idiopathic, Burger-Grutz Type
Hyperlipoproteinemia Type Ia
Hyperlipoproteinemia Type Ib
Hyperlipoproteinemia, Type I
Hyperlipoproteinemia, Type Ia
Hyperlipoproteinemia, Type Ib
Lipase D Deficiency
LIPD Deficiency
Lipoprotein Lipase Deficiency
Lipoprotein Lipase Deficiency, Familial

Perzistentní odkaz   https://www.medvik.cz/link/D008072
Definice

Geneticky podmíněná porucha se zvýšenou koncentrací chylomikronů. V séru bývá výrazná triacylglycerolemie. Klinicky bývají břišní koliky, časté pankreatitidy, hepatosplenomegalie, xantomatóza, lipaemia retinalis. Stav je způsoben deficitem lipoproteinové lipázy, apolipoproteinu C-II nezbytného pro její aktivaci či přítomností inhibitoru lipázy. (cit. Velký lékařský slovník online, 2017 http://lekarske.slovniky.cz/)

An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing.

DUI
D008072 MeSH Prohlížeč
CUI
M0012579
Předchozí užití
Hyperlipidemia/familial & genetic (1966-1979)
Historická pozn.
2007 (1980)
Veřejná pozn.
2007; see LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL 1991-2006, see HYPERLIPOPROTEINEMIA 1980-1990

C Nemoci
C16.320.565.398.224 Barthův syndrom 6
C16.320.565.398.465 hyperlipoproteinemie typ I 21
C16.320.565.398.481 hyperlipoproteinemie typ II 455
C16.320.565.398.483 hyperlipoproteinemie typ III 19
C16.320.565.398.487 hyperlipoproteinemie typ IV 14
C16.320.565.398.493 hyperlipoproteinemie typ V 6
C16.320.565.398.500 hypolipoproteinemie 35
C16.320.565.398.641 lipidózy 35
C18.452 metabolické nemoci 1 196
C18.452.584.500 dyslipidemie 1 634
C18.452.584.500.500 hyperlipidemie 1 238
C18.452.584.500.500.644 hyperlipoproteinemie 771
C18.452.584.500.500.644.237 hyperlipoproteinemie typ I 21
C18.452.584.500.500.644.475 hyperlipoproteinemie typ II 455
C18.452.584.500.500.644.485 hyperlipoproteinemie typ III 19
C18.452.584.500.500.644.490 hyperlipoproteinemie typ IV 14
C18.452.584.500.500.644.495 hyperlipoproteinemie typ V 6
C18.452.584.563.224 Barthův syndrom 6
C18.452.584.563.465 hyperlipoproteinemie typ I 21
C18.452.584.563.481 hyperlipoproteinemie typ II 455
C18.452.584.563.483 hyperlipoproteinemie typ III 19
C18.452.584.563.487 hyperlipoproteinemie typ IV 14
C18.452.584.563.493 hyperlipoproteinemie typ V 6
C18.452.584.563.500 hypolipoproteinemie 35
C18.452.584.563.641 lipidózy 35
C18.452.584.563.824 Shwachmanův-Diamondův syndrom 2
C18.452.648.398.224 Barthův syndrom 6
C18.452.648.398.465 hyperlipoproteinemie typ I 21
C18.452.648.398.481 hyperlipoproteinemie typ II 455
C18.452.648.398.483 hyperlipoproteinemie typ III 19
C18.452.648.398.487 hyperlipoproteinemie typ IV 14
C18.452.648.398.493 hyperlipoproteinemie typ V 6
C18.452.648.398.500 hypolipoproteinemie 35
C18.452.648.398.641 lipidózy 35