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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A series of 17 cases of gallstones in children observed over a period of 10 years in the area of Marseilles is described and the literature reviewed. The majority of children were girls over 10 years old. Symptoms were constantly present and the disease revealed nine times by acute "mechanical" cholecystitis, compared to 16 infectious cholecystitis followed during the same period, three times by an accident of migration (cholangitis in a 14 years old girl, bile ascitis in two infants). A cholecystography should be performed in acute recurrent abdominal pain of unknown origin in children, gallstones appearing to be radiotransparent in six patients. Among causes of gallstone formation, the authors dig out only 6 hemolytic anemias, related to hemoglobinopathies in three patients, and they emphasize the frequency of idiopathic cholelithiasis which should lead to a more complete investigation of the enterohepatic cycle and chemical constitution of bile in such patients.
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PMID:[A clinical survey on 17 cases of cholelithiasis in childhood (author's transl)]. 22 Jul 27

This prospective study demonstrated that among 92 consecutive patients who underwent cholecystectomy for gallstones at an urban university hospital, 27% had pigment stones and 73% had cholesterol stones. Age, sex, and weight, but not race, were significant determinants of stone type. The mean hemoglobin, direct and total serum bilirubin, and fasting glucose concentrations were similar for each group. The presence of alcoholism, diabetes, thyroid disease, or heterozygous hemoglobinopathy did not influence stone type. The average patient with pigment stones is a lean man or woman 63 years old; in contrast the composite patient with cholesterol stones is a modestly overweight woman 43 years old.
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PMID:Pigment vs cholesterol cholelithiasis: clinical and epidemiological aspects. 115 13

Sickle hemoglobinopathies include sickle cell disease, sickle-C disease, and sickle-beta thalassemia. Patients with these disorders commonly suffer a multitude of destructive events to vital organs, especially to the central nervous system, the spleen, the kidney, the lung, and the heart as a result of microvascular plugging by the sickled erythrocytes. Thoughtful preparation for anesthesia and operation, especially when directed by experienced individuals, can greatly reduce the hazard of inducing the sickle crises that formerly plagued individuals with sickle hemoglobinopathies who faced major operations under general anesthesia. The patient must be free of any acute illness, especially one involving the respiratory system. Adequate hydration preoperatively combined with avoiding perioperative hypoxia, hypothermia, and acidosis, the triggers for sickling, will go far toward avoiding sickle-induced complications. Modern transfusion therapy, consisting of multiple small transfusions of Hb A erythrocytes administered over several weeks prior to the operation, not only corrects the chronic anemia but suppresses erythropoiesis of cells containing Hb S in the patient's bone marrow and leaves him or her with a majority of cells containing Hb A. This provides a safety net in case a sickle-inducing insult occurs despite the best efforts to avoid one. Individuals with sickle hemoglobinopathies may require any of the operations common to all children, for example, herniorrhaphy, appendectomy, tonsillectomy, and circumcision, but a significant number will develop calcium bilirubinate cholelithiasis and possibly cholecystitis as a result of the continual increased load of bile salts resulting from the shortened lifespan of the cells containing Hb S. Also, although most individuals with Hb S will gradually suffer splenic infarction by late childhood, a significant number of infants will experience acute splenic sequestration crisis, a life-threatening entity, the recurrence of which is prevented by splenectomy. Several publications have demonstrated that such surgical procedures can be performed in large numbers of patients with sickle hemoglobinopathies without deaths and with minimal morbidity.
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PMID:Surgical management of children with hemoglobinopathies. 144 Jan 54

Nine young patients with sickle hemoglobinopathies successfully underwent laparoscopic cholecystectomy; no complications resulted from the procedure. The mean postoperative hospital stay was 1.6 days. This technique appears to be a safe and efficacious procedure in children with sickle hemoglobinopathies who require cholecystectomy for cholelithiasis.
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PMID:Laparoscopic cholecystectomy in young patients with sickle hemoglobinopathies. 153 Sep 71

Nine of 35 patients with sickle hemoglobinopathies and cholelithiasis were found to have concomitant common bile duct (CBD) stones. We describe the diagnosis and management of these patients with CBD stones. Historical information, physical examination, and routine laboratory tests were unable to identify accurately the patients with CBD stones. Similarly, ultrasonography of the hepatobiliary system was an insensitive method for detecting CBD stones, as only 3 of 8 patients were correctly identified. In contrast, both an intraoperative cholangiogram and endoscopic retrograde cholangiopancreatography were sensitive procedures for detection of CBD stones. We conclude that CBD stones are relatively common in patients with sickle cell disease and cholelithiasis, and clinicians should have a high index of suspicion for their presence.
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PMID:Diagnosis and management of common bile duct stones in patients with sickle hemoglobinopathies. 162 23

Despite comparable rates of hemolysis, only 50% of patients with sickle hemoglobinopathy (SH) develop pigment gallstones by age 20 yr. Thus, pathogenetic factors, other than hemolysis, may contribute to gallstone formation. In the present study we determined whether gallbladder function, measured by real-time ultrasonography or bile acid metabolism, determined by isotope dilution-mass spectrometry, were altered in adolescents and young adults with SH. Compared with healthy controls, SH subjects had larger fasting (27 +/- 16 vs. 15 +/- 5 ml, p less than 0.02), and residual (8 +/- 6 vs. 4 +/- 2 ml, p less than 0.03) volumes of the gallbladder, but similar rates of emptying (0.029 +/- 0.016 vs. 0.034 +/- 0.029 min-1) and percentage of fasting volume emptied (71% +/- 13% vs. 72% +/- 14%). In SH subjects, the volume and emptying of the gallbladder were similar between those with and without gallstones. Some SH subjects had stasis of bile within the gallbladder, as demonstrated by isotopic disequilibrium between the circulating bile acid pool and bile stored in the gallbladder. Subjects with SH with gallstones tended to have smaller bile acid pools than SH subjects without gallstones (81 +/- 11 vs 163 +/- 91 mumol/kg, p = 0.051). We conclude that adolescents and young adults with SH have enlarged gallbladders that retain an increased postprandial volume of bile. Bile retention within the gallbladder may lead to stasis and contribute to the pathogenesis of pigment gallstones.
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PMID:Gallbladder function is altered in sickle hemoglobinopathy. 264 5

Twenty-seven children with major sickle hemoglobinopathies underwent elective cholecystectomy for cholelithiasis. All were managed with a preoperative transfusion regimen to achieve a hemoglobin concentration of 11-14 g/dl with greater than 65% hemoglobin A. Intraoperative cholangiography revealed common bile duct stones in five patients, although only one case was diagnosed by preoperative ultrasonographic examination. Twenty-four children underwent incidental appendectomy by total intussusception. There were no vaso-occlusive events nor any other perioperative morbidity or mortality. Four months after cholecystectomy, one boy had a small bowel obstruction requiring surgical re-exploration. No patients had transfusion-acquired infection, although one boy had erythrocyte allosensitization to Lewis A antigen. This preoperative transfusion regimen and careful perioperative management permits safe elective cholecystectomy in children with sickle cell disease.
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PMID:Elective cholecystectomy in children with sickle hemoglobinopathies. Successful outcome using a preoperative transfusion regimen. 338 43

The increased incidence of Salmonella osteomyelitis in patients with sickle cell disease has never been entirely explained. Problems such as cholelithiasis, intestinal infarction, and frequent antibiotic use in this population could possibly result in prolonged or chronic intestinal carriage of Salmonella after acute gastroenteritis. If prolonged carriage were a factor in the pathogenesis of osteomyelitis, attempts to eliminate the Salmonella with antibiotics would be indicated. We did a stool culture survey of 71 patients attending our pediatric sickle cell clinic to determine the incidence of asymptomatic Salmonella carriage. At least two rectal swab cultures were obtained from each patient; 69% of patients also mailed in a stool sample for culture. No Salmonella was isolated. It therefore appears unlikely that prolonged intestinal Salmonella carriage is an important mechanism in the development of Salmonella osteomyelitis in patients with major sickle hemoglobinopathies.
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PMID:Intestinal Salmonella carriage in patients with major sickle cell hemoglobinopathies. 397 46

Cholelithiasis is a common complication of homozygous sickle cell disease. The frequency of gallstones appearing in patients with heterozygous sickle hemoglobinopathies is unknown. We performed sonographic tests on 65 unselected patients with major sickle hemoglobinopathies. Cholelithiasis was found in 11 (26%) of the 42 patients with hemoglobin SS, in three (20%) of the 15 with Hb SC, and in one (12.5%) of the eight with Hb S-beta-thalassemia. There was a correlation between the presence of gallstones and increasing age. All patients with major sickle hemoglobinopathies are at risk for the development of biliary tract disease.
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PMID:Cholelithiasis in patients with major sickle hemoglobinopathies. 669 15

Gray-scale ultrasound examination of the gallbladder was successfully performed in 226 patients with sickle cell hemoglobinopathy from 2 to 18 years of age. Sixty-three (27%) demonstrated the presence of gallstones; 14 additional patients had "sludge." The incidence of gallstones increased significantly with age, from 12% in the 2- to 4-year age group to 42% in the 15- to 18-year-old group. The proportion of females with gallstones increased significantly in adolescence. Patients with gallstones had higher mean bilirubin levels, but their mean hemoglobin values and reticulocyte counts were not significantly different from those in patients without gallstones. Ultrasound examination of the gallbladder is a simple, noninvasive technique for evaluating the biliary system. The incidence of gallstones in patients below the age of 10 is higher than expected and raises management questions that must be resolved.
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PMID:Incidence of cholelithiasis in sickle cell anemia using the ultrasonic gray-scale technique. 737 60


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