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)

Hemoglobinopathy S, Depranocytosis or Sickle Cell Disease is the most common hemoglobinopathy in the world. In its heterozygous form (Sickle Cell Trait), it affects 8% of the black population in the U.S. and 25% of the black population in Africa, and is found less frequently in the Mediterranean area, India, Middle East and Latin America. The basic alteration is a substitution of glutamic acid by valin in the sixth position of the beta globin chain, which causes polymerization at low oxygen tension thereby distorting the structure of erythrocytes and increasing blood viscosity, which, in turn, generates obstructions of the capillary arterial blood flow to different areas of the body thus causing microinfarctions. Although Splenic Infarction is rare, it is recognized as a serious complication of Heterozygous Sickle Cell Disease (Sickle Cell Trait). We present the case of a 21 year-old mestizo male patient who came in with an acute case of abdominal pain after arriving to work in the Casapalca mining city (located in the Peruvian Andes at 4200 m.a.s.l.) and was referred to our Hospital in Lima for exams. We present the case because it is an unusual cause of acute abdominal pain, and because this condition is rare in Peru and there are few publications about it.
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PMID:[Acute abdominal pain due to splenic infarction in a patient with heterozygous sickle cell disease exposed to high altitude]. 1721 89

Sickle-cell trait is a common genetic abnormality in the African American population. A sickle-cell crisis in a patient with sickle-cell trait is uncommon at best. Abdominal painful crises are typical of patients with sickle cell anemia. The treatment for an abdominal painful crisis is usually medical and rarely surgical. We present the case of a cocaine-induced sickle-cell crisis in a sickle-cell trait patient that resulted in splenic, intestinal, and cerebral infarctions and multisystem organ failure necessitating a splenectomy, subtotal colectomy, and small bowel resection. This case highlights the diagnostic dilemma that abdominal pain can present in the sickle-cell population and illustrates the importance of recognizing the potential for traditionally medically managed illnesses to become surgical emergencies.
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PMID:A unique cause of intestinal and splenic infarction in a sickle cell trait patient. 2373 81

The protective role of Sickle Cell Trait (SCT) in malaria endemic areas has been proved, and prevalence of HbS gene in malaria endemic areas is high. Splenic infarction is a well-known complication of SCT, while the association with malaria is considered rare. A Nigerian boy was admitted to our ward after returning from his country of origin, for P. falciparum malaria. He underwent abdominal ultrasound for upper right abdominal pain, showing cholecystitis and multiple splenic lesions suggestive of abscesses. Empiric antibiotic therapy was undertaken. Bartonella, Echinococcus, Entamoeba serologies, blood cultures, Quantiferon test, copro-parasitologic exam were negative; endocarditis was excluded. He underwent further blood exams and abdomen MRI, confirming the presence of signal alterations areas, with radiographic appearance of recent post-infarction outcomes. Hemoglobin electrophoresis showed a percentage of HbS of 40.6% and a diagnosis of SCT was then made. Splenic infarction should be taken into account in patients with malaria and localized abdominal pain. Moreover, diagnosis of SCT should be considered.
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PMID:A Strange Manifestation of Malaria in a Native Nigerian Boy. 2932