The clinical and genetic features of hereditary pancreatitis in South Australia.

ABSTRACT:

Objective

To characterise the clinical phenotypes and genetic variants of hereditary pancreatitis in people diagnosed in South Australia.

Design, setting, participants

Cross-sectional study of people who received molecular diagnoses of hereditary pancreatitis from one of four major diagnostic services in South Australia, 1 January 2006 - 30 June 2021.

Main outcome measures

Genotypic and clinical features of people with hereditary pancreatitis, including age at onset, attack frequency, pain indices, use of opioid medications, and physical and mental health impact of hereditary pancreatitis.

Results

We identified 44 people from ten families who received molecular diagnoses of hereditary pancreatitis during 2006-21 (including 25 Indigenous people [57%] and 27 wome

SUBMITTER: Wu D 

PROVIDER: S-EPMC9321757 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature