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Cystic Fibrosis

Fozia Akhtar Ali, MD and Reethu K. Nayak, MD Reviewed 06/2019
 


BASICS

DESCRIPTION

  • Cystic fibrosis (CF) is an autosomal recessive genetic mutation (CFTR gene) that most prominently affects the pulmonary and pancreatic systems.

  • The gastrointestinal (GI), endocrine, a...

DIAGNOSIS

HISTORY

  • Routine prenatal ultrasonography indicates hyperechogenic bowel.

    • The risk is highest if there is evidence of meconium peritonitis (scattered calcifications are seen throughout the feta...

TREATMENT

GENERAL MEASURES

  • Cystic Fibrosis Foundation guidelines call for yearly evaluation:

    • Four office visits, four respiratory cultures, PFTs q6mo, and at least one evaluation by a multidisciplinary ...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

  • Upon discharge for a pulmonary exacerbation, follow-up with CF provider within 2 to 4 weeks.

  • Routine clinic visits every 3 months, with airway cultures and pulmona...

REFERENCES

1
Cystic Fibrosis Foundation. Patient Registry: Annual Data Report to the Center Directors 2013. Bethesda, MD: Cystic Fibrosis Foundation; 2014. [View Abstract on OvidMedline]
2
Grigoriadis C,...

ADDITIONAL READING

  • Conwell LS, Chang AB. Bisphosphonates for osteoporosis in people with cystic fibrosis. Cochrane Database Syst Rev.  2014;(3):CD002010. [View Abstract on OvidMedline]

  • Mall MA, Bo...

CODES

ICD10

  • E84.9 Cystic fibrosis, unspecified

  • E84.11 Meconium ileus in cystic fibrosis

  • E84.0 Cystic fibrosis with pulmonary manifestations

  • E84.19 Cystic fibrosis with other intestinal manifestations

  • E84.8...

CLINICAL PEARLS

  • Meconium ileus is virtually pathognomonic for CF.

  • When sweat test is equivocal, CFTR genetic testing is diagnostic.

  • CF must be considered in any child with chronic diarrhea, especially i...

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