Implications of molecular diagnostic testing in families with hereditary pancreatitis.

A. Pandya, X. J. Xia, Susan H Blanton, B. Landa, T. Markello, W. E. Nance

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Hereditary Pancreatitis (HP), is an autosomal dominant trait, which presents with recurrent attacks of abdominal pain, and is the most common cause of chronic relapsing pancreatitis in children. In addition to recurring episodes of intense epigastric pain, patients have nausea, vomiting, and anorexia, and typically show elevated serum amylase levels during the acute episode that can rapidly decline in convalescence. Complications of long-standing disease include features of chronic pancreatitis, such as pancreatic pseudo-cyst, exocrine and endocrine failure, parenchymal calcification, and pancreatic cancer. A large family from Virginia, which was originally studied by Katwinkle and Lapey in 1973, was re-ascertained through a new proband. Linkage studies in this family mapped the gene to the 7q35 region, with similar results being reported simultaneously by two other groups. A pathogenic G to A transition mutation in exon 3 of the cationic trypsinogen (CT) gene, which had previously been mapped to this region, was found both in our family as well as other families from North America. Many other conditions can produce abdominal symptoms that are often mis-attributed to the disease in HP families. An affected member of our family in whom the mutation was confirmed by direct sequencing of exon 3 of the cationic trypsinogen gene requested diagnostic testing on his 4-year-old son because of onset of severe abdominal pain and vomiting. Screening for the mutation in this child did not reveal the pathogenic G to A change. These results prevented unnecessary invasive diagnostic procedures and treatment in this child. The pre-symptomatic testing of high risk individuals could, thus, have a significant impact on the well being of both affected and normal family members.

Original languageEnglish
Pages (from-to)207-211
Number of pages5
JournalGenetic Testing
Volume1
Issue number3
StatePublished - Dec 1 1997
Externally publishedYes

Fingerprint

Molecular Diagnostic Techniques
Trypsinogen
Chronic Pancreatitis
Abdominal Pain
Mutation
Vomiting
Exons
Pancreatic Cyst
Genes
Anorexia
Amylases
North America
Hereditary pancreatitis
Nuclear Family
Pancreatic Neoplasms
Nausea
Pain

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Pandya, A., Xia, X. J., Blanton, S. H., Landa, B., Markello, T., & Nance, W. E. (1997). Implications of molecular diagnostic testing in families with hereditary pancreatitis. Genetic Testing, 1(3), 207-211.

Implications of molecular diagnostic testing in families with hereditary pancreatitis. / Pandya, A.; Xia, X. J.; Blanton, Susan H; Landa, B.; Markello, T.; Nance, W. E.

In: Genetic Testing, Vol. 1, No. 3, 01.12.1997, p. 207-211.

Research output: Contribution to journalArticle

Pandya, A, Xia, XJ, Blanton, SH, Landa, B, Markello, T & Nance, WE 1997, 'Implications of molecular diagnostic testing in families with hereditary pancreatitis.', Genetic Testing, vol. 1, no. 3, pp. 207-211.
Pandya A, Xia XJ, Blanton SH, Landa B, Markello T, Nance WE. Implications of molecular diagnostic testing in families with hereditary pancreatitis. Genetic Testing. 1997 Dec 1;1(3):207-211.
Pandya, A. ; Xia, X. J. ; Blanton, Susan H ; Landa, B. ; Markello, T. ; Nance, W. E. / Implications of molecular diagnostic testing in families with hereditary pancreatitis. In: Genetic Testing. 1997 ; Vol. 1, No. 3. pp. 207-211.
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