Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030305 (pancreatitis)
 16,014 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 36-year-old woman was admitted to hospital with a first attack of acute intermittent porphyria. At the same time increased serum levels of amylase and lipase as well as an increased amylase clearance to creatinine clearance ratio were observed, permitting the diagnosis of acute pancreatitis. The etiology of the latter could not be determined. In addition, elevation of indirect bilirubin without evidence of hemolysis was observed Gilbert's syndrome was suspected. 40 weeks after the first episode, a second attack of identical abdominal pain was noted, with elevation of pancreatic enzymes in the serum. There is evidence that acute intermittent porphyria and acute relapsing pancreatitis may have some etiological connection in this patient.
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PMID:Acute intermittent porphyria with relapsing acute pancreatitis and unconjugated hyperbilirubinemia without overt hemolysis. 95 Jan

Acute and chronic recurrent pancreatitis have been reported in patients with a variety of inborn errors of metabolism. Among these are hyperlipidaemias, various disorders of branched-chain amino acid degradation, homocystinuria, haemolytic disorders, acute intermittent porphyria and several amino acid transporter defects. Some of these disease entities are exceedingly rare. In most of these disorders, pancreatitis is not very common and, with the exception of lipoprotein lipase and apolipoprotein C-II deficiency, is neither the leading nor the clinically most distressing manifestation of the underlying metabolic defect. The majority of these syndromes are, however, inherited, and often entire kindreds are carriers of well-defined germline mutations that can, to varying degrees, be associated with pancreatitis. We have reviewed the clinical, biochemical and genetic characteristics of those inborn errors of metabolism because interesting information can be gained from the in regard to the pathophysiology of pancreatitis and because they need to be distinguished from other hereditary causes of the disease.
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PMID:Acute and chronic pancreatitis in patients with inborn errors of metabolism. 1212 Feb 23

Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors. However, gene defect alone is usually not sufficient to cause an acute attack, and many extrinsic factors play a role. Diagnostic tests are defined, but clinical suspicion is often delayed as symptoms mimic other common conditions. We report a case of a 18-year-old male with severe, persistent, and generalized abdominal pain along with marked hyponatremia, with subsequent development of altered mentation needing intensive care. He improved after infusion of intravenous dextrose. AIP can mimic many common surgical and medical conditions such as appendicitis, cholecystitis, pancreatitis, etc., and may lead to extensive diagnostics or surgical intervention if missed. Diagnosis of AIP requires high clinical suspicion. It should be considered in a patient with recurrent abdominal symptoms, intractable hyponatremia, along with neurological manifestations. Early diagnosis and treatment can prevent recurrent episodes and can potentially be lifesaving. Abbreviations: AIP: Acute intermittent porphyria; ALA: Aminolevulinic acid; PBG: Porphobilinogen.
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PMID:Acute intermittent porphyria: a test of clinical acumen. 2863 73