Familial hyperamylasemia
Rev. Hosp. Clin. Fac. Med. Univ. Säo Paulo
;
57(2): 77-82, mar.-apr. 2002. ilus, tab
Article
in English
| LILACS
| ID: lil-307993
ABSTRACT
A 7-year-old white boy was referred to us with a history of 3 attacks of hypogastric pain over the previous 2 years and persistently elevated serum amylase concentrations. At physical examination, he was well with no evidence of clinical abnormalities. His weight and height were normal. Laboratory diagnostic investigations were all normal except for the presence of Ascaris lumbricoides in the feces and persistently elevated serum amylase levels. Serum amylase determinations in the family members were normal in his father and maternal grandmother but elevated in his mother, sister, maternal aunt, and uncle, all of whom asymptomatic. Macroamylasemia was excluded in the child and in the mother. The finding of persistently elevated amylasemia in the child and in the other family members spanning 3 generations, and the exclusion of diseases that lead to hyperamilasemia are consistent with the diagnosis of familial hyperamylasemia. Until now, only 1 similar case has been reported. Familial hyperamylasemia must be considered in the differential diagnosis of hyperamylasemias in childhood
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Abdominal Pain
/
Amylases
Limits:
Child
/
Humans
/
Male
Language:
English
Journal:
Rev. Hosp. Clin. Fac. Med. Univ. Säo Paulo
Journal subject:
Medicine
Year:
2002
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
University of Säo Paulo/BR
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