eMedicine Specialties > Pediatrics: General Medicine > Pulmonology

Primary Ciliary Dyskinesia: Treatment & Medication

Author: Girish D Sharma, MD, Associate Professor, Department of Pediatrics, Rush University Medical Center, Rush Children's Hospital; Director of Pediatric Pulmonary Section and Rush Cystic Fibrosis Center
Contributor Information and Disclosures

Updated: Sep 25, 2008

Treatment

Medical Care

In patients with primary ciliary dyskinesia (PCD), monitoring pulmonary function through spirometry, lung volume determination, and oxyhemoglobin saturation measurements allows objective assessment of progression of disease. Sputum culture and sensitivity tests are useful in managing antibiotic therapy in expectorating patients; bronchoscopy may be required in ascertaining lower respiratory tract pathogens from symptomatic nonexpectorating patients. Monitoring hearing is essential to avoid speech and educational problems. Treatment of the respiratory disease is directed at aggressive airway clearance and resolving respiratory or bacterial infections.

  • Chest physical therapy (CPT)
    • Chest physical therapy and aerosolized bronchodilators assist in airway clearance and postural drainage.
    • CPT may be provided by hand percussion and postural drainage or by using a mechanical method such as high-frequency chest wall oscillation (ThAIRapy Vest), positive expiratory pressure valve, or Flutter.
  • Infections
    • Administer routine vaccination for pertussis, measles, Haemophilus influenzae type b, influenza, and pneumococcus.
    • Provide antibiotic therapy for otitis media, pneumonia, and sinusitis. In cases with recurrent respiratory infections, consider preventive long-term oral or nebulized antibiotics.

Surgical Care

  • Surgery may be indicated when antibiotic therapy has not helped.
  • Tympanostomy with pressure-equalizing tube placement is used for chronic persistent otitis media.
  • Functional endoscopic sinus surgery and/or nasal polypectomy promote sinus drainage and improve nasal breathing in cases of persistent symptomatic sinusitis and nasal obstruction.
  • Lobectomy is used in rare cases with persistent localized bronchiectasis that is progressive in spite of medical treatment. It is also used in cases of recurrent infection in localized nonfunctioning tissue.

Consultations

  • Collaboration between the primary care physician, pulmonologist, and otolaryngologist is essential to assure optimal care for affected patients.
  • Consultation with a geneticist may help to provide genetic counseling to the family.

Activity

  • Activity is not restricted as long as the oxygen saturation is adequate.

Medication

Antimicrobial therapy is indicated for the treatment of pulmonary infections, otitis media, and sinusitis. Starting with the usual antibiotics, including amoxicillin or amoxicillin-clavulanate, is reasonable. In the absence of response, the choice of a different antibiotic depends on the results of bacterial cultures. Some of the drugs commonly used are listed below.

Antimicrobial agents

Empiric antimicrobial therapy must be comprehensive and should cover all likely pathogens in the context of the clinical setting.


Amoxicillin (Trimox, Amoxil)

A penicillin antibiotic with activity against gram-positive and some gram-negative bacteria. Binds to PBPs, inhibiting bacterial cell wall growth.

Adult

250-500 mg PO tid

Pediatric

40 mg/kg/d PO divided tid

Decreases PO contraceptive efficacy; probenecid increases amoxicillin serum concentration

Pregnancy

B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals

Precautions

May develop rash and diarrhea; caution in those allergic to cephalosporin antibiotics


Amoxicillin and clavulanic acid (Augmentin)

Combination product that extends the antibiotic spectrum of this penicillin to include bacteria normally resistant to beta-lactam antibiotics.
Different amoxicillin/clavulanic acid ratios are recognized. (eg, 250-mg tab [250/125] vs 250-mg chewable tab [250/62.5]). Do not use products containing 125 mg of clavulanate until child weighs >40 kg. Note different product ratios for bid and tid dosing schedules.

Adult

250-500 mg PO tid; alternatively, 875 mg PO bid

Pediatric

20-40 mg/kg/d PO divided tid; not to exceed 2 g/d of amoxicillin component
Supplied as 125-mg and 250-mg chewable tablets with 31.25 and 62.5 mg clavulanate, respectively, or as 125- and 250-mg/5 mL suspension with 31.25 mg and 62.5 mg of clavulanate per 5 mL, respectively
Alternatively, 25-45 mg/kg/d PO divided bid; supplied as 200-mg and 400-mg chewable tab with 28.5 and 57 mg clavulanate, respectively, or as 200- and 400-mg/5 mL suspension with 28.5 mg and 57 mg of clavulanate per 5 mL, respectively

Allopurinol may increase incidence of rash

Pregnancy

B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals

Precautions

Rash and gastrointestinal upset are some of the more common adverse reactions; newer formulation for bid dosing is associated with less diarrhea; bid dosing preparations contain phenylalanine and should not be prescribed for patients with PKU; caution in patients allergic to cephalosporin antibiotics


Sulfamethoxazole and trimethoprim (Bactrim, Septra)

Inhibits bacterial growth by inhibiting synthesis of dihydrofolic acid.

Adult

160 mg (as trimethoprim component) per 800 mg (as sulfamethoxazole component) PO q12h (ie, 1 double-strength tab q12h)

Pediatric

5-10 mg/kg/d (based on trimethoprim component) PO divided bid

May increase PT when used with warfarin (perform coagulation tests and adjust dose accordingly); coadministration with dapsone may increase blood levels of both drugs; coadministration of diuretics increases prevalence of thrombocytopenia purpura in elderly people; phenytoin levels may increase with coadministration; may potentiate effects of methotrexate in bone marrow depression; hypoglycemic response to sulfonylureas may increase with coadministration; may increase levels of zidovudine

Documented hypersensitivity; megaloblastic anemia caused by folate deficiency (avoid); administration in infants <2 mo; G-6-PD deficiency

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

May cause hepatic necrosis; aplastic anemia; agranulocytosis; hemolysis may occur in G-6-PD deficiency and is frequently dose-related


Erythromycin and sulfisoxazole (Pediazole)

Erythromycin is a macrolide antibiotic with a large spectrum of activity. Erythromycin binds to the 50S ribosomal subunit of the bacteria, which inhibits protein synthesis.
Sulfisoxazole expands erythromycin's coverage to include gram-negative bacteria. Sulfisoxazole inhibits bacterial synthesis of dihydrofolic acid by competing with para-aminobenzoic acid.

Adult

Not established

Pediatric

50 mg/kg/d (as erythromycin) PO divided qid; not to exceed 2 g/d erythromycin or 6 g/d sulfisoxazole

Erythromycin decreases the clearance of terfenadine, cisapride, and astemizole, which may result in serious cardiac arrhythmias; erythromycin decreases the clearance of cyclosporine, midazolam, phenytoin, triazolam, and theophylline; erythromycin may increase the toxicity of warfarin and ergotamine

Documented hypersensitivity; hepatic impairment; concomitant administration of terfenadine, theophylline, cisapride, and astemizole; administration to infants <2 mo; G-6-PD deficiency

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Hemolysis may occur in G-6-PD deficiency and frequently is dose-related; use with caution in patients with renal or hepatic impairment

Bronchodilators

Inhaled bronchodilators are used to treat associated bronchospastic symptoms or before chest physical therapy to help airway clearance.


Albuterol (Proventil, Ventolin)

May be administered as either metered dose inhaler or nebulized form. Beta-agonist for bronchospasm refractory to epinephrine. Relaxes bronchial smooth muscle by action on beta2-receptors with little effect on cardiac muscle contractility.

Adult

Metered dose inhaler: 180 mcg (2 actuations, 90 mcg per actuation) inhaled q4-6h

Pediatric

Metered dose inhaler: Administer as in adults
Nebulization: 2.5 mg (0.5 mL of 0.5% solution diluted in 2-3 mL 0.9% NaCl) inhaled via nebulizer q4-6h

Antagonized by beta-antagonists (eg, propranolol); cardiovascular effects may increase with MAOIs, inhaled anesthetics, tricyclic antidepressants, and sympathomimetic agents

Documented hypersensitivity; beta-agonist therapy (some patients with bronchiectasis may have a paradoxical constriction of the airways with beta-agonist therapy)

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Muscular tremors, tachycardia, hyperglycemia, or hypokalemia may occur with high and very frequent doses

Glucocorticoids

Anti-inflammatory agents are used to treat inflammation associated with chronic and recurrent pulmonary infections. Various inhaled corticosteroids are used.

Inhaled corticosteroids are the most commonly used anti-inflammatory agents. Various preparations are available in metered dose inhaler form. Recently, a nebulized form of budesonide was approved and made available.


Beclomethasone (Beclovent, Vanceril)

Inhibits bronchoconstriction mechanisms. Produces direct smooth muscle relaxation. May decrease number and activity of inflammatory cells, in turn decreasing airway hyperresponsiveness.

Adult

84 mcg (42 mcg per actuation) inhaled PO tid/qid

Pediatric

4-12 inhalations per d PO (42 mcg per actuation) divided tid/qid

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Inhaled corticosteroids can cause PO thrush and hoarseness of voice (prevented by rinsing mouth after a dose and using spacer with MDI); very large doses (>800 mcg/d) have been shown to have systemic adverse effects, including growth retardation


Fluticasone (Flovent)

Inhibits bronchoconstriction mechanisms. Produces direct smooth muscle relaxation. May decrease number and activity of inflammatory cells, in turn decreasing airway hyperresponsiveness.

Adult

88 (44 mcg per actuation) inhaled PO bid initially; may increase prn; not to exceed 440 mcg bid

Pediatric

4-11 years: 50-100 mcg (using Diskus) inhaled PO bid
>11 years: 44-132 mcg (1-3 inhalations of 44 mcg per actuation) inhaled PO bid; alternatively 110 mcg (1 inhalation of 110 mcg per actuation) bid

Drugs that are metabolized by the CYP3A4 isoenzyme (ie, ketoconazole) may increase fluticasone concentrations

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Inhaled corticosteroids can cause PO thrush and hoarseness of voice (prevented by rinsing mouth after a dose and using spacer with MDI); very large doses (>800 mcg/d) have been shown to have systemic adverse effects, including growth retardation


Budesonide (Pulmicort)

The nebulized form (ie, Respules) is now approved by the FDA, allowing younger children the benefit of administration. Alters level of inflammation in airways by inhibiting multiple types of inflammatory cells and decreasing production of cytokines and other mediators involved in the asthmatic response. Available as dry inhaled powder (Flexhaler - 90 mcg/actuation [delivers 80 mcg]; Turbuhaler – 200 mcg/actuation [delivers 160 mcg]) or suspension for nebulization (Respules).

Adult

Metered dose inhaler: 200-400 mcg inhaled PO bid initially; may increase to 800 mcg bid

Pediatric

Metered dose inhaler: 200-400 mcg/d (200 mcg per actuation) inhaled PO
Nebulized form (Respules): 0.25-0.5 mg inhaled via nebulizer qd/bid

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Inhaled corticosteroids can cause PO thrush and hoarseness of voice (prevented by rinsing mouth after a dose and using spacer with MDI); very large doses (>800 mcg/d) have been shown to have systemic adverse effects, including growth retardation

More on Primary Ciliary Dyskinesia

Overview: Primary Ciliary Dyskinesia
Differential Diagnoses & Workup: Primary Ciliary Dyskinesia
Treatment & Medication: Primary Ciliary Dyskinesia
Follow-up: Primary Ciliary Dyskinesia
Multimedia: Primary Ciliary Dyskinesia
References
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References

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Further Reading

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Keywords

primary ciliary dyskinesia, PCD, immotile cilia syndrome, ICS, cilia, dyskinetic cilia syndrome, immotile cilia syndrome, Kartagener syndrome, situs inversus totalis, respiratory infections, sinusitis, otitis media, male infertility, chronic sinusitis, bronchiectasis, ciliary dyskinesia syndrome, CDS, male infertility, rhinitis, pneumonia, dextrocardia, rhinorrhea, anosmia, halitosis, hydrocephalus, atelectasis, nasal mucosal congestion, mucopurulent nasal discharge, nasal obstruction, nasal polyps

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Contributor Information and Disclosures

Author

Girish D Sharma, MD, Associate Professor, Department of Pediatrics, Rush University Medical Center, Rush Children's Hospital; Director of Pediatric Pulmonary Section and Rush Cystic Fibrosis Center
Girish D Sharma, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, American Thoracic Society, and Royal College of Physicians of Ireland
Disclosure: Nothing to disclose.

Medical Editor

Susanna A McColley, MD, Director of Cystic Fibrosis Center; Head, Division of Pulmonary Medicine; Associate Professor, Department of Pediatrics, Children's Memorial Medical Center of Chicago, Northwestern University
Susanna A McColley, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, American Sleep Disorders Association, and American Thoracic Society
Disclosure: Genentech Honoraria Speaking and teaching; Genentech Consulting fee Consulting; Novartis Consulting fee Consulting; Altus Consulting fee Consulting; Axcan Scandi Consulting fee Consulting; Boston Scientific Consulting fee Consulting

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Heidi Connolly, MD, Associate Professor of Pediatrics and Psychiatry, University of Rochester; Director, Pediatric Sleep Medicine Services, Strong Sleep Disorders Center
Heidi Connolly, MD is a member of the following medical societies: American Academy of Pediatrics, American Thoracic Society, and Society of Critical Care Medicine
Disclosure: Nothing to disclose.

CME Editor

Mary E Cataletto, MD, Associate Director, Division of Pediatric Pulmonology, Winthrop University Hospital; Professor of Clinical Pediatrics, State University of New York at Stony Brook; Director of Children's Sleep Services, Winthrop University Hospital
Mary E Cataletto, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Chest Physicians
Disclosure: Shering Plough Pharmaceuticals Honoraria Consulting

Chief Editor

Michael R Bye, MD, Attending Physician, Pediatric Pulmonary Medicine, Columbia University Medical Center; Professor of Clinical Pediatrics, Division of Pulmonary Medicine, Columbia University College of Physicians and Surgeons
Michael R Bye, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, and American Thoracic Society
Disclosure: Merck Honoraria Speaking and teaching

 
 
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