A 6 month-old male infant is admitted to the hospital with diagnosis of recurrent pneumonia.
His vital signs on admission:
Respiratory rate = 50 /min; heart rate = 170 beats/min; temperature – 102° F.
Substernal retractions are prominent.
Lung auscultation: bilateral wheezes and rhonchi.
Medical history: this is a third admission since birth for pneumonia.
His mother also states that he hasn’t gain body weight like her older child had at 6 months of age.
Answer the following Questions:
1. How is this case consistent with cystic fibrosis diagnosis?
2. What tests could be ordered to confirm the diagnosis?
3. What interventions could help to alleviate respiratory distress?
4. What is the rationale behind the poor weight gain?
5. What counseling or family education should be provided to the Family about cystic fibrosis before the child goes home?
6. What genetic counseling should be provided?
The case study is reviewed and answers are provided for the questions
Cystic fibrosis is a genetic disorder that causes decreases the life span of the individual1. The disease is characterized by influencing the salt and fluid transport across the cells and diverse organs. Among the organs, lung disease is responsible for the most of symptoms. The disease is recurrent in the infant of just 6 months. The symptoms (wheezes in both the lungs, poor weight gain) exhibited by the infant are appears to be the symptoms of cystic fibrosis. Hence it could be considered as the case is consistent with cystic fibrosis. But it cannot be ruled out for pneumonia until the disease is diagnosed
The following are the tests used for the diagnosis of the disease for confirmation
o Screening of infant for cystic fibrosis TR genes: The infant can be tested for gene test. The presence of faulty cystic fibrosis-TR genes in infant indicates the presence of disease.