NURS - 6501N Advanced PathophysiologyWeek 1 Initial Discussion Post

NURS - 6501N Advanced Pathophysiology Week 1 Initial Discussion Post Scenario 2: A mother brings her 6-month-old daughter to the HCP for evaluation of possible colic. The mother says the baby has had many episodes of crying after eating and, despite having a good appetite, is not gaining weight. The mother says the baby’s belly “gets all swollen sometimes.” The mother says the baby tastes “salty” when the mother kisses the baby. Further work up reveals a diagnosis of cystic fibrosis. The mother relates that her 23-month-old son has had multiple episodes of “chest congestion” and was hospitalized once for pneumonia. The mother wants to know what cystic fibrosis is and she also wants to know if she should have any more children. Overview: Cystic Fibrosis (CF) is a genetic disorder of the exocrine glands caused by mutations in CFTR, a cAMP-regulated epithelial chloride channel which results in impairment in chloride transfer across the cell membranes with ensuing chloride and water accumulation in organs and causes viscous secretions to develop that block ducts and form cysts (Mccance & Huether, 2019). The role genetics plays in the disease: Cystic fibrosis is an autosomal recessive disorder that affects 70,000 individuals worldwide. The condition affects primarily those of European descent and males, although cystic fibrosis has been reported in all races and ethnicities (Cohen & Prince, 2012). One CF mutation gene from each parent is passed down to the child, that will leave the child with two mutated genes causing them to develop CF and have the signs and symptoms along with the associated complications of CF. In the scenario the mother asked about whether she should have more children, as the healthcare provider, I would suggest genetic counseling. I would explain to mom that she and her husband are carriers and they can pass their copy of the CFTR gene mutation to