Question: Scenario - Peter Jackson
Ruth and Michael Jackson have been trying to have a baby for the past five years. In November 2016, Ruth gives birth to a son, Peter. 48 hours after birth, Peter undergoes the standard neonatal screening test, which helps to identify those infants at risk of rare, but serious medical conditions such as phenylketonuria, hypothyroidism and cystic fibrosis.
Peter is found to have cystic fibrosis (CF), an autosomal recessive condition that affects mostly the lungs, but also the pancreas, liver, kidneys and small intestine.
(a) Discuss difference between having the disease of CF compared to being a carrier of CF from a genetic perspective.
Further Information:
At three months, Ruth and Michael take Peter to the paediatrician for a follow up. The paediatrician notes FTT (failure to thrive) on Peter's medical record. She explains to the Jackson's that this means Peter has poor weight gain, and that he will need a high calorie diet and enzyme supplementation for the rest of this life.
(b) Explain how CF causes failure to thrive and how this may impact on Peter's biological maturation
(c) Why does Peter need a high calorie diet and pancreatic enzyme supplementation?
(d) How does CF contribute to malabsorption of nutrients in a teenager?