Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 35-year-old woman is referred for right upper quadrant abdominal pain and fever. She had a cholecystectomy for gallstones 4 years previously. An aunt has also had a cholecystectomy. Abdominal ultrasound examination shows numerous hyperechoic foci within the liver and some "comet tail" artifacts. Because of her age (less than 40), the recurrence of biliary symptoms after cholecystectomy, her family history and the intrahepatic hyperechoic foci, the diagnosis of low phospholipid-associated cholelithiasis (LPAC) syndrome is suspected and confirmed by the demonstration of a point mutation of the ABCB4 gene. Therapy by ursodeoxycholic acid (AUDC) is started. Symptoms improve and they disappear completely within a few weeks. The cause, pathophysiology, diagnosis and treatment are reviewed.
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PMID:[Right upper quadrant abdominal pain and fever. Genetic phospholipid deficiency]. 1974 51