Familial hyperamylasaemia.
نویسندگان
چکیده
A six year old boy underwent extensive investigation for recurrent abdominal pain and was found to have a persistently raised serum amylase. Endoscopic retrograde cholangiopancreatography was normal and macroamylasaemia was excluded. Serum amylase concentrations were found to be raised in other family members spanning three generations, all of whom were asymptomatic. Clearance studies suggested no evidence of a renal tubular defect and serum lipase concentrations were normal. This is the first report of apparently familial hyperamylasaemia and the mode of inheritance is consistent with an autosomal dominant pattern.
منابع مشابه
Abdominal pain and hyperamylasaemia--not always pancreatitis.
A raised serum amylase concentration, at least four times the upper limit of normal (ULN), is used to support the diagnosis of acute pancreatitis in a patient presenting with abdominal pain. The authors report a case of toxic shock syndrome complicated by a raised serum amylase concentration that peaked at 50 times the ULN in a patient with recurrent abdominal pain. The commonest cause of hyper...
متن کاملPatients with non-diagnostic hyperamylasaemia must be investigated and managed as per acute pancreatitis
OBJECTIVES The identification of hyperamylasaemia insufficient to confidently diagnose acute pancreatitis in patients with epigastric pain poses a clinical dilemma. The aim of this study was to identify a cohort of such patients and review their presentation, investigation and outcome. DESIGN Patients admitted through the emergency surgical intake during a 12-month period with serum amylase l...
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Measurement of serum amylase is commonly used to diagnose acute pancreatitis. Moderate hyperamylasaemia is frequently seen both in acute pancreatitis and other conditions causing acute abdominal pain such as mesenteric infarction.1 2 However, grossly elevated serum amylase levels (>five times normal) are rare in non-pancreatic causes of abdominal pain.3 We report two cases ofmesenteric infarcti...
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ورودعنوان ژورنال:
- Gut
دوره 40 5 شماره
صفحات -
تاریخ انتشار 1997