Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Lysosomal acid lipase (LAL) deficiency, or cholesterol ester storage disease, is a disorder affecting the breakdown of cholesterol esters and triglycerides within lysosomes. Clinical findings include hepatomegaly, hepatic dysfunction, and dyslipidemia with a wide range of phenotypic variability and age of onset. The available clinical and molecular information of the patient presented herein was consistent with a diagnosis of LAL deficiency, but her LAL activity assay repeatedly showed normal or borderline low results. Her response to enzyme replacement therapy and demonstrable deficiency on a newer specific enzymatic assay ultimately confirmed her diagnosis of LAL deficiency.
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PMID:A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy. 3274 May 31

Fasciola hepatica (FH) is a parasite that causes fever, hepatomegaly, abdominal pain, weight loss, anemia, and eosinophilia in the acute period, and jaundice, pancreatitis, and cholangitis in the chronic period by settling in the bile ducts. A 13-year-old girl admitted with abdominal pain, nausea, and jaundice. In her hemogram, the patient had leukocytosis and eosinophilia. The transaminase, bilirubin, amylase, and lipase values were high in the biochemistry of the patient. Abdominal ultrasonography revealed dilatation, and moving and hyperechogenic tubular structures in the intra- and extrahepatic bile ducts. Endoscopic retrograde cholangiopancreatography (ERCP) was performed on the patient, and live parasites were detected in brown color spilling from the choledoch to the duodenum during the procedure. The clinical findings of the patient improved, and the laboratory values returned to normal approximately one week after the procedure. ERCP provides important benefits in the diagnosis and treatment of FH in the pediatric patient group.
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PMID:Diagnosis and Treatment of Fasciola Hepatica With Endoscopic Retrograde Cholangiopancreatography in a Child Patient: Case Report. 3308 86


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