Cystic Fibrosis

Patient Presentation:
The mother of a 2-year old Caucasian girl brings her daughter (HEU) to the pediatrician’s office. The mother states that HEU has had frequent watery, foul smelling and sometimes greasy stools on and off for the past 3 months. At other times HEU seems to be constipated. HEU is in the 50th percentile for height and 25th percentile for weight. She is noticeably small for her age. The mother also reports that after HEU’s last cold, the cough did not subside for several weeks and each cough was producing thick, grayish mucus. Her medical record shows 3 hospitalizations in the past 2 years from respiratory tract infections, all of which were treated with antibiotics. Today, HEU appears to be in good health with no apparent cough, but she looks malnourished and pale.

Differential List:

Failure to thrive
Gastrointestinal infection unrelated to past respiratory infections
Cystic Fibrosis
Hirschsprung's Disease
Intussusception

Diagnosis:

Abdominal ultrasound showed no obstructions or mechanical blockages
Stool culture revealed normal bacterial growth, without viral infection
Stool sample was positive for fat and vitamins A, E and D
Chloride sweat test on 150mg of sweat revealed 111mEq/L of chloride (high)
Gene testing determined that HEU was homozygous for mutations on the CFTR gene (positive result for Cystic Fibrosis)
Upon inquiry, HEU’s mother responds that HEU’s skin tastes salty when she kisses her.

With the positive diagnosis of Cystic Fibrosis (an autosomal recessive disorder), HEU and her family prepare for a life of symptom management. There is no cure for CF, though diligent treatments allow an affected individual lead a relatively normal life.

Treatment:
HEU is started on pancreatic enzymes to help digest fat and antibiotics to prevent further lung infections. Supplemental A, D, E and K vitamins are prescribed to replace the fat soluble vitamins that HEU’s intestines cannot absorb. Her mother is educated in the need to provide HEU with a high calorie and high quality diet. She is given a vibration vest and her parents are trained in chest physiotherapy, also know as “clapping” or “percussion.” Both are intended to break up and release thick mucus in the airways. HEU receives one nebulizer treatment of albuterol at the pediatrician’s office and her mother is instructed on how to administer the treatments daily while at home. HEU’s blood sugar will also be closely monitored to catch any occurrences of hyperglycemia and developing diabetes.

Outcome:
HEU’s mother and father assumed sole responsibility of her home-based care. A team of doctors at the local hospital also took on her case and work closely with the family and the pediatrician to stay on top of HEU’s treatment plan. With daily chest physiotherapy, twice-daily nebulizers, lots of hand washing and enzymes with every meal and snack, HEU begins to gain weight and her symptoms are generally under control.

Case created by Hannah Underdahl, 2011.