Submitted Phenotype Details
First developed pancreatitis with abdominal pain at the age of 19years with elevated amylase levels. Recurrent admissions and an USS which showed gallstones and resulted in cholecystectomy.
Continued to have abdominal fullness and had right hemicolectomy which showed impacted faeces unable to wash through, appendix dilated and no marked chronic inflammatory cells. This raised as possible diagnosis as cystic fibrosis.
His sweat test was positive but genotype screen negative. He has had no chest symptoms at this time