ABCMdb

ABCB4 p.Gly319Glu

Predicted by SNAP2:	A: D (75%), C: D (80%), D: D (91%), E: D (91%), F: D (91%), H: D (91%), I: D (91%), K: D (95%), L: D (91%), M: D (91%), N: D (85%), P: D (91%), Q: D (91%), R: D (91%), S: D (80%), T: D (80%), V: D (91%), W: D (91%), Y: D (91%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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Publications
[hide] [44-year-old woman with elevated liver enzymes and... Internist (Berl). 2011 Oct;52(10):1234-7. doi: 10.1007/s00108-010-2775-2. Hopf C, Beuers U, Bikker H, Denk GU, Rust C
[44-year-old woman with elevated liver enzymes and a family history for cholelithiasis].
Internist (Berl). 2011 Oct;52(10):1234-7. doi: 10.1007/s00108-010-2775-2., [PMID:21161147]

Abstract [show]
"Low phospholipid associated cholelithiasis" (LPAC) syndrome is an important differential diagnosis in younger patients with biliary symptoms after cholecystectomy and concomitant elevated serum liver tests. Typical symptoms include recurrence of biliary colics after cholecystectomy, echogenic material in the intrahepatic bile ducts, intrahepatic cholestasis of pregnancy or cholestasis under hormonal contraception and a family history of gallstone disease. Patients with LPAC syndrome can be successfully treated with ursodeoxycholic acid.

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Sentences [show]
No. Sentence Comment
39 Diskussion LPAC-Syndrom Das LPAC-Syndrom ist gekennzeichnet durch [7]: F eine symptomatische Cholezystolithiasis vor dem 40.Êf;Lebensjahr, Abb. 1ߙ8ߙDie Oberbauchsonographie zeigt intrahepatisch echoreiche Foki, teilweise mit dorsalem Schallschatten (rote Pfeile), ohne intra- oder extrahe- patische Cholestase p.Gly319Glu p.Arg47Gln p.Arg47Gln p.Gly319Glu p.Arg47Gln p.Gly319Glu Keine Mutation Abb. 2ߙ8ߙStammbaum der betroffenen Familie, die Indexpatientin ist mit einem Stern gekennzeichnet. Login to comment