Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Although relatively rare, acute pancreatitis is the most common disease complex involving the pancreas in the paediatric age group. The etiology of the disease is often unknown, and Italian epidemiological data on the paediatric population and, in particular, on the etiology of the disease are not available (except for studies of prevalence). Within the field of the most frequently encountered pancreatitis in the age range of our interest (i.e. 0-18 years), not only the commonly observed forms whose etiopathogenesis is ascribable to cholelithiasis must be mentioned but also those forms due to proteic-caloric malnutrition that are becoming increasingly common. The presenting clinical symptoms and signs may not be typical and the laboratory tests may not always be sensitive enough. In such age range chronic recurrent pancreatitis plays a very important epidemiologic role. Approximately 40% of children and teenagers admitted to the hospital with a diagnosis of pancreatitis report a previous episode of the disease. Irreversible changes in pancreatic parenchyma develop in those patients in whom the disease progresses, leading to pancreatic insufficiency. Such a morbid condition (chronic pancreatitis) is more often observed in adolescents, in whom the disease manifests itself with a vague repetitive dyspeptic symptomatology, after alternating remissions and recrudescences, not always clinically evident. In children, the clinical picture most commonly encountered is represented by recurrent abdominal pains, in view of the fact that the patients are frequently affected by thalassaemia. The pseudocystic evolution of the disease is the most common organic damage resulting from the chronic progression of the pancreatic impairment. A few differences have been found with respect to severity, etiology, and mortality of pancreatitis in the paediatric age group as compared with older age groups. Both the general practitioner with a paediatric practice and the paediatrician encounter a large number of difficulties in this field of pathology. Therefore, an adequate and correct "management" of children with acute or chronic pancreatitis seems to be mandatory.
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PMID:Acute pancreatitis in the paediatric age group: a personal experience. 1585 Jan 42

The case of a 32-year-old black woman of African descent who suffered from repeated episodes of acute pancreatitis, initially triggered when flying on airplanes, is reported. She did not drink alcohol or smoke. Genetic analysis was negative for cationic trypsinogen, serine protease inhibitor Kazal type 1 and chymotrypsin C. However, hemoglobin F was elevated. Sequencing of the thalassemia gene revealed a novel alteration in the 5' region indicative of a functional abnormality of the molecule. Sequencing the cystic fibrosis transmembrane conductance regulator (CFTR) gene revealed a heterozygote sequence variant. The combination of a hemoglobin gene mutation known for thalassemia in conjunction with the hitherto undescribed CFTR mutation is suggested to pave the road for initial and repetitive pancreatitis attacks. This will be discussed.
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PMID:Can a polymorphism in the thalassemia gene and a heterozygote CFTR mutation cause acute pancreatitis? 2465 87

Background Hypertriglyceridemia thalassemia syndrome is a rare entity with an unknown pathogenetic link. Case presentation We report a case of an 8-month-old female with thalassemia major and increased triglyceride (TG) levels. The clinical features were as in classical thalassemia except for a white discoloration of the plasma. After exclusion of familial triglyceridemia and secondary causes (hypothyroidism, nephrotic syndrome, drugs etc.), a diagnosis of hypertriglyceridemia thalassemia syndrome was made. Conclusions The high levels of TG in these patients are associated with oxidative stress and higher risk of acute pancreatitis and coronary diseases. An early recognition is thus essential. In our patient, the levels reduced after a transfusion therapy similar to previous reports.
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PMID:Hypertriglyceridemia thalassemia syndrome. 2990 56