Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We reviewed the medical records of 17 patients with sickle hemoglobinopathy-associated cholelithiasis who were candidates for laparoscopic cholecystectomy (LC) between 1991 and 1994. Eight patients with suspected choledocholithiasis (CDL) were identified, all of whom had preoperative endoscopic retrograde cholangiopancreatography (ERCP), which revealed CDL in 3 patients (18%), all of whom had endoscopic ductal clearance. Choledocholithiasis was suspected because of hyperbilirubinemia or serum liver enzyme abnormalities. Incremental hyperbilirubinemia exceeding "baseline" values by > 5 mg/dL was the best predictor of CDL. Subsequent LC was successful with discharge within 2 days of LC in all but one patient, who was converted to open cholecystectomy. This small series suggests that in sickle hemoglobinopathy patients with cholelithiasis (1) CDL is relatively common among patients with an increase above baseline hyperbilirubinemia, (2) bile duct dilatation, alkaline phosphatase, and serum aminotransferase levels are poor predictors of CDL, and (3) sequential endoscopic/laparoscopic management of cholelithiasis and suspected CDL is successful.
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PMID:Sequential endoscopic/laparoscopic management of sickle hemoglobinopathy-associated cholelithiasis and suspected choledocholithiasis. 748 84

The role and value of endoscopic retrograde cholangiopancreatography (ERCP) in the pediatric age group is not well established, because pancreatic and biliary diseases are less common in children. This however is not the case in areas like the Eastern Province of Saudi Arabia where sickle cell disease (SCD) and other hemoglobinopathies are common, with increased frequency of cholelithiasis and choledocholithiasis. The purpose of this study was to evaluate the indications, findings, safety and therapies of ERCP in children. One hundred and twenty five children had diagnostic and/or therapeutic ERCP as part of their management at our hospital. Their medical records were reviewed for: age at diagnosis, sex, Hb electrophoresis, indication for ERCP, findings, therapy and complications. There were 77 males and 48 females. Their age at presentation ranged from 5-18 year (mean 13.25 year). The majority of them had sickle cell disease (77.6%). The indications for ERCP were: obstructive jaundice (67.2%), recurrent biliary colic with or without jaundice (10.4%), acute and chronic pancreatitis (7.2%), postoperative bile leak (2.4%), cholangitis with obstructive jaundice (2.4%), hepatitis of unknown etiology (3.2%), cirrhosis of unknown etiology (4%), thalassemia with jaundice (0.8%), hemobilia (0.8%), acute cholecystitis with jaundice (0.8%), and sickle cell disease with ulcerative colitis and obstructive jaundice (0.8%). In six children, ERCP was done following laparoscopic cholecystectomy. ERCP was carried out under sedation in 91 (72.8%) children and under general anesthesia in 34. It was successful in 121 (96.8%) children while cannulation of the Ampulla failed in four. ERCP was normal in 43 children, but eight of them showed evidence of recent stone passage and in six, there were gallstones. In the remaining children, ERCP revealed: normal CBD with stones (18 patients), dilated CBD with stones (17 patients), dilated CBD without stones (19 patients), dilated biliary tree with stones (10 patients), dilated biliary tree without stones (six patients), bile leak (two patients), dilated biliary tree with stones and choledocho-duodenal fistula (one patient), choledochal cyst (two patients), septate gallbladder (one patient), normal ERCP with multiple pancreatic cysts (one patient) and biliary stricture (one patient). The following procedures were carried out: 35 had endoscopic sphincterotomy and stone extraction, 20 had endoscopic sphincterotomy, four had CBD stenting, one underwent removal of a stent, two had insertion of a nasobiliary tube and one had biliary endoprosethesis. There was no mortality. One had bleeding from the site of sphincterotomy which stopped after adrenaline injection. Four patients (3.2%) developed transient mild pancreatitis which settled conservatively. ERCP in the pediatric age group is safe both as a diagnostic and therapeutic procedure. ERCP can provide valuable information which aid in the diagnosis of biliary and pancreatic diseases in children as well as therapy with the technical feasibility of endoscopic sphincterotomy. This is specially so in the era of laparoscopic cholecystectomy, where ERCP should be the treatment of choice in children with CBD stones who are going or have previously undergone laparoscopic cholecystectomy.
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PMID:Diagnostic and therapeutic ERCP in the pediatric age group. 1714 28

A 29-year-old African woman without any history of diseases was referred to our clinic because of recurrent abdominal pain. 6 weeks earlier she had delivered a healthy baby. Laboratory data revealed hypochromic microcytic anemia, elevated cholestatic liver enzymes, and an elevated bilirubin level of 2.2 mg/dl. Abdominal sonography showed choledocholithiasis. The endoscopic retrograde cholangiography showed the presence of more than 100 small stones in the intra- and extrahepatic bile ducts. An endoscopic papillotomy was performed and multiple small black stones were removed from the bile duct by basket into the duodenum. Because of the hypochromic microcytic anemia, the detection of pigment stones and the ethnic background of the patient we suspected a hemoglobinopathy. Hemoglobin electrophoresis showed 97 % HbC. The molecular genetic analysis revealed a homozygous mutation in codon 6 GAG > AAG for the beta globin chain (HbCC). HbC is a structurally abnormal hemoglobin with typical aggregates and tetragonal crystal formation which results in mild chronic hemolytic anemia. The cholezystectomy after 6 weeks was performed without complications.
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PMID:["Endoscopy in a stone quarry"--multiple pigment stones 6 weeks after delivery]. 2022 94