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23 Cystic Fibrosis
343
• Secondary diabetes
• Pancreatitis
• Vitamin deciencies
• Rectal prolapse
Rectal prolapse, which usually occurs during passage of a large bowel motion, can
be a frightening condition for parents of young children. It is hardly ever associated
with major medical complications and is easily reduced manually. This condition
usually resolves spontaneously by 3 to 4 years of age. Surgical intervention is not
advocated, unless the condition is persistent. [Durie P.Chapter 09. In: Hyman P,
editor. Gastroenterology and Hepatology, Volume 04. Philadelphia: Current
Medicine; 1996 (Feldman M, series editor) ISBN: 0-443-07852-1] Caption from
original
• Genitourinary
• Male infertility
344
R. M. Cantor et al.
Clinical manifestations and co-morbidity of cystic brosis. Cystic brosis is associated with numerous complications and co-morbid conditions. As indicated in the
gure, almost every patient with cystic brosis who lives long enough will eventually develop pulmonary symptoms. However, the age of onset, the rate at which
cystic brosis progresses, and the incidence of co-morbid conditions are extremely
variable. The 1999 incidence of some of these manifestations and co-morbid conditions, obtained from the Cystic Fibrosis Foundation Registry, are provided in parentheses. It is important to note that the incidence of most of these conditions increases
signicantly with age and disease progression. Thus, the prevalence of some
23 Cystic Fibrosis
345
conditions (e.g., liver disease and diabetes mellitus) in a clinical setting that includes
adolescents and young adults may be signicantly higher than these gures suggest.
[Coakley R.Boucher R.Fiel S.Schidlow D.Chapter 04. In: Crapo J, editor. Bone's
Atlas of Pulmonary and Critical Care Medicine. 3rd ed. Philadelphia: Current
Medicine; 2005. ISBN: 1-57340-211-7] Caption adapted from original
• The most common clinical presentations are overwhelmingly pulmonary in
nature, including chromic cough with sputum production, dyspnea, and signs
of respiratory insufciency.
The “vicious circle” of lung disease in cystic brosis. Cystic brosis is a genetic
form of chronic bronchitis characterized by a vicious circle of obstruction, infection, and inammation related to impaired local host-defense mechanisms. This
produces progressive bronchiectasis and, ultimately, respiratory failure. Despite the
identication of the CFTR gene and characterization of its role as an ion channel,
intense efforts are still under way to understand how defective transepithelial electrolyte transport leads to the devastating consequences seen throughout the airways.
[Coakley R.Boucher R.Fiel S.Schidlow D.Chapter 04. In: Crapo J, editor. Bone's
Atlas of Pulmonary and Critical Care Medicine. 3rd ed. Philadelphia: Current
Medicine; 2005. ISBN: 1-57340-211-7] Caption from original
• Most infants and children will have already been diagnosed in the rst few
months of life.
346
R. M. Cantor et al.
Atypical
• Any of the aforementioned symptoms and signs may present.
Primary Differential Considerations
• Cystic brosis is a distinctive syndrome, but in early stages it may be con-
fused with acute lung or sinus infections. Asthma and metabolic/nutritional
disorders may also be differential considerations.
History andPhysical Exam
• The history will reveal progressive symptoms and signs of respiratory com-
promise. The patient will most often have been diagnosed by abnormal
screening and conrmatory testing.
• In older children, the cough is productive. In infancy, this nding is masked
by the propensity of these children to swallow their secretions.
• Physical examination ndings may include:
• Poor weight gain
• Clubbing
• Dyspnea
• Wheezing
• Signs of pneumonia
• Steatorrhea
Steatorrhea by fecal Sudan stain. This photomicrograph stool sample demonstrates
the presence of large amounts of fat by Sudan stain. This test is qualitative and
23 Cystic Fibrosis
should only be used as a screening tool for gross steatorrhea, but in this particular
patient it reveals the presence of a large amount of fat in the stool. [Vanderhoof
J.Chapter 06. In: Hyman P, editor. Gastroenterology and Hepatology, Volume 04.
Philadelphia: Current Medicine; 1996 (Feldman M, series editor) ISBN: 0-44307852-1] Caption from original
• Increased AP diameter
• Typical symptoms suggesting the presence of CF include:
• Meconeum ileus (25% of patients)
• Respiratory symptoms (50% of patients)
• Failure to thrive (25% of patients)
347
Findings That Conrm Diagnosis
• Abnormal sweat chloride and genetic testing
Factors That Suggest Diagnosis
• Any infant or child with failure to thrive and the early development of pulmo-
nary compromise.
Factors That Exclude Diagnosis
• Normal screening tests
Ancillary Studies
Imaging
• Initial radiographs may be normal, with the eventual development of hyperin-
ation. Inevitably, the chronic nature of the disease will result in the development of bronchiectasis and cyst formation. In addition, pneumothoraces may
develop.
348
R. M. Cantor et al.
Advanced cystic brosis (CF). This is a chest radiograph of a 14-year-old boy with
advanced CF.It demonstrates the typical changes of end-stage CF.There is marked
generalized hyperination. Both lungs demonstrate diffuse bronchial wall thickening, with “tram tracking” (parallel lines due to thickening and absence of tapering
of the bronchial walls), most evident in the left lower lobe, indicative of bronchiectasis. There are also scattered peripheral acinar inltrates, especially in the left apex
and in both lung bases, as well as blunting of the left costrophenic sulcus, due to
recurrent, long-standing pneumonia. The heart size is within normal limits given the
degree of lung hyperination. A central line is in place to provide antibiotics.
[MacLusky I, Solomon M, Laxer R, Ford-Jones EL, Friedman J, Gerstle T.Atlas of
Pediatrics, Volume IA, Chapter 14. In: Laxer RM, editor. The Hospital for Sick
Children: Atlas of Pediatrics. Philadelphia, PA: Current Medicine Group; 2005. 519
p. ISBN 1-57340-188-9] Caption from original
Electrocardiography
• With the development of chronic lung disease, signs of right-sided strain/
hypertrophy will be evident.
Cardiac Enzymes
• Not indicated.
23 Cystic Fibrosis
Special Populations
Age
• As discussed under Presentation, most cases are diagnosed in the rst few
weeks of life.
Co-morbidities
• The gene mutation in CF damages the hepatobiliary system. Diabetes may develop.
Pitfalls inDiagnosis
• Consider CF in all cases of chronic, progressive pulmonary dysfunction.
Critical Steps Not toMiss
• Early administration of bronchodilators
• Radiographic monitoring
• Cultures of expressed sputum
• Consultation with pediatric pulmonology
349
Mimics
• Any chronic lung disease
Time-Dependent Interventions
• Acute reversal of bronchospasm
• Provision of targeted antibiotics
Overall Principles ofTreatment
• The primary goal in CF management is to maintain the patient’s lung function
to as high a level as possible, for as long as possible. Nutritional support is
also important to both quality and quantity of life for patients with CF.Sound
and prudent use of antibiotics both treats acute exacerbations and helps protect against antimicrobial resistance.
350
Organ System Assessment Therapy
Pulmonary Clinical Daily physiotherapy
Routine spirometry Antibiotics: based on sputum culture
Chest radiography Daily (inhaled vs oral)
Routine sputum cultures For acute exacerbations (oral vs IV)
Throat swabs in infants or toddlers Oxygen (if hypoxemic)
Lung transplant for end - stage disease
Nutrition Regular growth assessment:
Gastroenterologic
Meconium ileus Clinical: neonate with vomiting,
DIOS Clinical: symptoms or signs of
Hepatobiliary Liver function tests Pancreatic enzymes (increases enterohepatic
Metabolic
CF-related
diabetes
Sodium
chloride
depletion
height vs weight
Skin-fold measurement
Fecal fat % (dietary intake)
failure to pass meconium
Abdominal radiography: gastric
and small bowel distention ± “soap
bubble” appearance in small bowel
Contrast enema: meconium
obstruction of terminal ileum
chronic partial distal ileal or cecal
obstruction
Mass in right lower quadrant Daily mineral oil, balanced intestinal lavage
Radiologic: obstructing stool mass
in distal ileum or cecum
Abdominal ultrasound (cirrhosis,
portal hypertension)
Glucose tolerance test (ketosis
rare unless type 1 diabetes)
Hyponatremia or metabolic
alkalosis: blood electrolytes and
gases; urinary electrolytes
Pancreatic enzyme supplementation; high protein; high-fat diet; caloric supplementation
(nasogastric or gastrostomy tube feeds) if
persisting malnutrition
Medical: N-acetylcysteine enema
Surgical: decompression - resection of obstructed
segment, defunctioning ileostomy
Exclude surgical complication (appendicitis,
intussusception, volvulus)
(Golytely, Peglyte®)
circulation)
Ursodeoxycholic acid therapy
Sclerosis of esophageal varices
Liver transplant for end - stage liver failure
Low-dose insulin (potential for hypoglycemia)
Maintain adequate caloric intake
Sodium chloride – water repletion
Prevention: daily electrolyte supplements in hot
weather or in high -risk populations (infants and
athletes)
R. M. Cantor et al.
Clinical management of cystic brosis (CF). [MacLusky I, Solomon M, Laxer R,
Ford-Jones EL, Friedman J, Gerstle T.Atlas of Pediatrics, Volume IA, Chapter 14.
In: Laxer RM, editor. The Hospital for Sick Children: Atlas of Pediatrics.
23 Cystic Fibrosis
Philadelphia, PA: Current Medicine Group; 2005. 519 p. ISBN 1-57340-188-9]
Caption from original
351
Disease Course
• Unfortunately, most patients will develop irreversible lung disease in early
adulthood.
Related Evidence
Papers of particular interest have been highlighted as:
** Of key importance
Practice Guideline
Smyth AR, Bell SC, Bojcin S, Bryon M, Duff A, Flume P, Kashirskaya N, Munck
A, Ratjen F, Schwarzenberg SJ, Sermet-Gaudelus I, Southern KW, Taccetti G,
Ullrich G, Wolfe S; European Cystic Fibrosis Society. European Cystic Fibrosis
Society Standards of Care: Best Practice guidelines. J Cyst Fibros. 2014 May;13
Suppl 1:S23-42. https://doi.org/10.1016/j.jcf.2014.03.010. Review. PubMed
PMID: 24856775. http://www.ncbi.nlm.nih.gov/pubmed/24856775 **
Tangpricha V, Kelly A, Stephenson A, Maguiness K, Enders J, Robinson KA,
Marshall BC, Borowitz D; Cystic Fibrosis Foundation Vitamin D EvidenceBased Review Committee. An update on the screening, diagnosis, management,
and treatment of vitamin D deciency in individuals with cystic brosis: evidence-based recommendations from the Cystic Fibrosis Foundation. J Clin
Endocrinol Metab. 2012 Apr;97(4):1082-93.
3050. Epub 2012 Mar 7. PubMed PMID: 22399505. http://www.ncbi.nlm.nih.
gov/pubmed/22399505 **
Cystic Fibrosis Foundation, Borowitz D, Robinson KA, Rosenfeld M, Davis SD,
Sabadosa KA, Spear SL, Michel SH, Parad RB, White TB, Farrell PM, Marshall
BC, Accurso FJ.Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic brosis. J Pediatr. 2009 Dec;155(6 Suppl):S73-93.
https://doi.org/10.1016/j.jpeds.2009.09.001. PubMed PMID: 19914445. http://
www.ncbi.nlm.nih.gov/pubmed/19914445 **
Flume PA, Mogayzel PJ Jr, Robinson KA, Goss CH, Rosenblatt RL, Kuhn RJ,
Marshall BC; Clinical Practice Guidelines for Pulmonary Therapies Committee.
Cystic brosis pulmonary guidelines: treatment of pulmonary exacerbations. Am
J Respir Crit Care Med. 2009 Nov 1;180(9):802-8.
rccm.200812-1845PP. Epub 2009 Sep 3. Review. PubMed PMID: 19729669.
http://www.ncbi.nlm.nih.gov/pubmed/19729669 **
https://doi.org/10.1210/jc.2011-
https://doi.org/10.1164/
352
R. M. Cantor et al.
Castellani C, Southern KW, Brownlee K, Dankert Roelse J, Duff A, Farrell M,
Mehta A, Munck A, Pollitt R, Sermet-Gaudelus I, Wilcken B, Ballmann M,
Corbetta C, de Monestrol I, Farrell P, Feilcke M, Férec C, Gartner S, Gaskin K,
Hammermann J, Kashirskaya N, Loeber G, Macek M Jr, Mehta G, Reiman A,
Rizzotti P, Sammon A, Sands D, Smyth A, Sommerburg O, Torresani T, Travert
G, Vernooij A, Elborn S.European best practice guidelines for cystic brosis
neonatal screening. J Cyst Fibros. 2009 May;8(3):153-73.
https://doi.
org/10.1016/j.jcf.2009.01.004. Epub 2009 Feb 26. PubMed PMID: 19246252.
http://www.ncbi.nlm.nih.gov/pubmed/19246252 **
Southern KW, Mérelle MM, Dankert-Roelse JE, Nagelkerke AD.Newborn screen-
ing for cystic brosis. Cochrane Database Syst Rev. 2009 Jan 21;(1):CD001402.
https://doi.org/10.1002/14651858.CD001402.pub2. Review. PubMed PMID:
19160197.
http://www.ncbi.nlm.nih.gov/pubmed/19160197 **
Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie
PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW 3rd; Cystic Fibrosis
Foundation. Guidelines for diagnosis of cystic brosis in newborns through
older adults: Cystic Fibrosis Foundation consensus report. J Pediatr. 2008
Aug;153(2):S4-S14.
https://doi.org/10.1016/j.jpeds.2008.05.005. PubMed
PMID: 18639722; PubMed Central PMCID: PMC2810958. http://www.ncbi.
nlm.nih.gov/pubmed/18639722 **
Flume PA, O'Sullivan BP, Robinson KA, Goss CH, Mogayzel PJ Jr, Willey- Courand
DB, Bujan J, Finder J, Lester M, Quittell L, Rosenblatt R, Vender RL, Hazle L,
Sabadosa K, Marshall B; Cystic Fibrosis Foundation, Pulmonary Therapies
Committee. Cystic brosis pulmonary guidelines: chronic medications for maintenance of lung health. Am J Respir Crit Care Med. 2007 Nov 15;176(10):957-
69. Epub 2007 Aug 29. PubMed PMID: 17761616. http://www.ncbi.nlm.nih.
gov/pubmed/17761616 **
LeGrys VA, Yankaskas JR, Quittell LM, Marshall BC, Mogayzel PJ Jr; Cystic
Fibrosis Foundation. Diagnostic sweat testing: the Cystic Fibrosis Foundation
guidelines. J Pediatr. 2007 Jul;151(1):85-9. PubMed PMID: 17586196.
http://
www.ncbi.nlm.nih.gov/pubmed/17586196 **
Review
Stoltz DA, Meyerholz DK, Welsh MJ.Origins of cystic brosis lung disease. N
Engl J Med. 2015 Jan 22;372(4):351-62. https://doi.org/10.1056/
NEJMra1300109. Review. PubMed PMID: 25607428. http://www.ncbi.nlm.nih.
gov/pubmed/25607428
Martiniano SL, Hoppe JE, Sagel SD, Zemanick ET.Advances in the diagnosis and
treatment of cystic brosis. Adv Pediatr. 2014 Aug;61(1):225-43.
https://doi.org/10.1016/j.yapd.2014.03.002. Epub 2014 May 3. Review. PubMed
PMID: 25037130. http://www.ncbi.nlm.nih.gov/pubmed/25037130 **