Literature DB >> 9203953

Familial hyperamylasaemia.

P M Cuckow1, A Y Foo, A Jamal, M D Stringer.   

Abstract

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.

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Year:  1997        PMID: 9203953      PMCID: PMC1027177          DOI: 10.1136/gut.40.5.689

Source DB:  PubMed          Journal:  Gut        ISSN: 0017-5749            Impact factor:   23.059


  6 in total

Review 1.  Amylase measurement--which method?

Authors:  A Y Foo
Journal:  Ann Clin Biochem       Date:  1995-05       Impact factor: 2.057

Review 2.  Genetic influences on diagnostic enzymes in plasma.

Authors:  S B Rosalki
Journal:  Enzyme       Date:  1988

3.  Macroamylasemia: a newly recognized cause for elevated serum amylase activity.

Authors:  J E Berk; H Kizu; P Wilding; R L Searcy
Journal:  N Engl J Med       Date:  1967-11-02       Impact factor: 91.245

4.  Macroamylasaemia: a report of two cases.

Authors:  C W Imrie; J King; A R Henderson
Journal:  Scott Med J       Date:  1973-11       Impact factor: 0.729

Review 5.  Where does serum amylase come from and where does it go?

Authors:  C Pieper-Bigelow; A Strocchi; M D Levitt
Journal:  Gastroenterol Clin North Am       Date:  1990-12       Impact factor: 3.806

6.  Macroamylasemia in a 5-year-old girl.

Authors:  M D'Avanzo; C Cobbaert; C Tolone; R Toraldo; G Canino; F Vetrano; R Santinelli; F Iafusco
Journal:  J Pediatr Gastroenterol Nutr       Date:  1992-01       Impact factor: 2.839

  6 in total
  2 in total

1.  Benign pancreatic hyperenzymemia in children.

Authors:  Lucio Gullo; Marina Migliori
Journal:  Eur J Pediatr       Date:  2006-09-15       Impact factor: 3.183

2.  Two rare cases of benign hyperlipasemia in children.

Authors:  Elena Lionetti; Ruggiero Francavilla; Salvatore Leonardi; Stefania Tomarchio; Alessia Gennaro; Chiara Franzonello; Mario La Rosa
Journal:  World J Clin Cases       Date:  2014-01-16       Impact factor: 1.337

  2 in total

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