Pancreatic Intraepithelial Neoplasia Is Associated With Chronic Pancreatitis Due to Serine Protease Inhibitor Kazal Type 1 and Cystic Fibrosis Transmembrane Conductance Regulator Mutations

Pancreas ◽  
2010 ◽  
Vol 39 (6) ◽  
pp. 947-948 ◽  
Author(s):  
Vinciane Rebours ◽  
Anne Couvelard ◽  
Alain Sauvanet ◽  
Pascal Hammel ◽  
Philippe Ruszniewski ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Chronic Pancreatitis ◽  
Protease Inhibitor ◽  
Intraepithelial Neoplasia ◽  
Serine Protease Inhibitor ◽  
Transmembrane Conductance Regulator ◽  
Pancreatic Intraepithelial Neoplasia ◽  
Transmembrane Conductance ◽  
Cystic Fibrosis Transmembrane

scholarly journals Monogenic diabetes mellitus in cystic fibrosis

2018 ◽  
Vol 104 (9) ◽  
pp. 887-889 ◽  
Author(s):  
Hoong-Wei Gan ◽  
Jayesh Mahendra Bhatt ◽  
Louise Denvir ◽  
Tabitha Randell ◽  
Pooja Sachdev
Keyword(s):  
Diabetes Mellitus ◽  
Cystic Fibrosis ◽  
Monogenic Diabetes ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Nuclear Factor 1 ◽  
Successive Generations ◽  
Cystic Fibrosis Transmembrane

We present a non-consanguineous family of three siblings who presented with diabetes mellitus (DM), two of whom had genetically confirmed cystic fibrosis (CF), with one pancreatic-sufficient mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (ΔF508/R117H;IVS8-5T). A detailed history revealed family members from three successive generations diagnosed with ‘type 1’ or ‘type 2’ diabetes, leading to genetic investigations for monogenic DM. A heterozygous frameshift mutation in the hepatocyte nuclear factor 1 homeobox alpha (HNF1A) gene (c.404delA) was subsequently confirmed in all three siblings, which is known to cause monogenic diabetes and is exquisitely sensitive to sulfonylurea therapy. Following this diagnosis, both siblings with CF and HNF1A monogenic diabetes were started on gliclazide therapy, while their older brother who had been wrongly diagnosed with type 1 diabetes was switched from insulin to gliclazide, all with excellent therapeutic responses.

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