Pancreatic Agenesis 1
Autoszomális recesszív
Caused by changes in both copies of PDX1, a master regulator of pancreas development and of insulin production. A change in a single copy can cause a form of diabetes known as MODY4.
Tünetek és jelek
Diabetes from the newborn period, with slow growth before birth. When the pancreas does not form, or makes too few digestive enzymes, poor digestion of fat and other nutrients can occur.
Mit változtat a diagnózis
Insulin treatment, pancreatic enzyme replacement where digestive enzymes are lacking, and checks of fat-soluble vitamin levels, with dietetic support. Carrier parents may be at risk of diabetes and can be offered screening. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.
Vizsgált gének
Más néven
PAGEN1; pancreatic agenesis caused by mutation in PDX1; PDX1 pancreatic agenesis
