Updated: 8/14/2018

Primary Ciliary Dyskinesia

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Snapshot
  • A 6-year-old boy presents to his pediatrician's office due to fever, frequent sputum production, and rhinorrhea. This is the 4th time this year that he has been having these symptoms, which was previously managed with bedrest and antibiotic therapy. The patient was born at term to a 29-year-old woman via spontaneous vaginal delivery. The birth was complicated by mild respiratory distress requiring oxygen supplementation for approximately 1 week. Vital signs are significant for fever, mild tachypnea, and an oxygen saturation of 94% on room air. On physical exam, there is sinus tenderness over the maxillary sinuses and crackles and wheezes on pulmonary auscultation. A radiograph of the chest is performed, which demonstrates ring shadows, tramlines, and dextrocardia.
Introduction
  • Clinical definition
    • an inherited disorder that affects motile cilia
  • Epidemiology
    • incidence
      • ~50% of patients have situs inversus
        • describes that the visceral organs are reversed
          • e.g., dextrocardia
    • demographics
      • most cases present in childhood (~5-6 years of age)
  • Etiology
    • autosomal recessive mutations that affect motile cilia production or function
      • this is a heterogenous disorder
  • Pathogenesis
    • mutations that impair motile cilia function results in
      • abnormalities in organ laterality
        • situs inversus
      • impaired mucociliary clearance 
        • places the patient at risk of developing airway infection, disease, and distress
      • disorders of infertility
  • Associated conditions
    • Kartagener syndrome
      • characterized by patients having the triad
        • situs inversus 
        • chronic sinusitis
        • bronchiectasis
  • Prognosis
    • long-term outcomes depend on respiratory severity
    • lifespan is typically expected to be normal
Presentation
  • Symptoms
    • respiratory
      • newborns may present with mild respiratory distress
      • recurrent upper and lower respiratory infections
    • rhinosinusitis (a cardinal feature)
      • patients may have headache
    • chronic secretory otitis media
      • accompanied by recurrent acute otitis media
      • can result in a conductive hearing loss
    • impaired or decreased fertility
    • ectopic pregnancy
  • Physical exam
    • pulmonary exam
      • auscultatory crackles
      • wheezes
    • situs inversus
Imaging
  • Radiography 
    • indication
      • performed in patients suspected of having primary ciliary dyskinesia
        • radiography is preferred in children
    • findings
      • situs inversus
      • mucoid impaction
      • bronchiectasis
  • Computerized tomography (CT) scan
    • indication 
      • performed in patients suspected of having primary ciliary dyskinesia
        • CT scan is preferred in adults
    • findings
      • situs inversus
      • bronchiectasis
Studies
  • Making the diagnosis
    • based on clinical presentation and supported by testing
      • e.g., nasal nitric oxide measurement, high-speed videomicroscopy, and transmission electron microscopy
Differential
  • Cystic fibrosis 
    • distinguishing factor
      • patients with cystic fibrosis will have an abnormal CFTR genetic test and sweat chloride test
Treatment
  • Management approach
    • management is based on what is known for cystic fibrosis and bronchiectasis
Complications
  • Respiratory
    • bronchiectasis
    • recurrent airway infection
  • Otolaryngology
    • conductive hearing loss secondary to chronic otitis media
  • Reproductive
    • abnormal sperm motility in men
    • abnormal cilia motility in the fallopian tubes of women
      • may result in ectopic pregnancy
 

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Questions (2)
Lab Values
Blood, Plasma, Serum Reference Range
ALT 8-20 U/L
Amylase, serum 25-125 U/L
AST 8-20 U/L
Bilirubin, serum (adult) Total // Direct 0.1-1.0 mg/dL // 0.0-0.3 mg/dL
Calcium, serum (Ca2+) 8.4-10.2 mg/dL
Cholesterol, serum Rec: < 200 mg/dL
Cortisol, serum 0800 h: 5-23 μg/dL //1600 h:
3-15 μg/dL
2000 h: ≤ 50% of 0800 h
Creatine kinase, serum Male: 25-90 U/L
Female: 10-70 U/L
Creatinine, serum 0.6-1.2 mg/dL
Electrolytes, serum  
Sodium (Na+) 136-145 mEq/L
Chloride (Cl-) 95-105 mEq/L
Potassium (K+) 3.5-5.0 mEq/L
Bicarbonate (HCO3-) 22-28 mEq/L
Magnesium (Mg2+) 1.5-2.0 mEq/L
Estriol, total, serum (in pregnancy)  
24-28 wks // 32-36 wks 30-170 ng/mL // 60-280 ng/mL
28-32 wk // 36-40 wks 40-220 ng/mL // 80-350 ng/mL
Ferritin, serum Male: 15-200 ng/mL
Female: 12-150 ng/mL
Follicle-stimulating hormone, serum/plasma Male: 4-25 mIU/mL
Female: premenopause: 4-30 mIU/mL
midcycle peak: 10-90 mIU/mL
postmenopause: 40-250
pH 7.35-7.45
PCO2 33-45 mmHg
PO2 75-105 mmHg
Glucose, serum Fasting: 70-110 mg/dL
2-h postprandial:<120 mg/dL
Growth hormone - arginine stimulation Fasting: <5 ng/mL
Provocative stimuli: > 7ng/mL
Immunoglobulins, serum  
IgA 76-390 mg/dL
IgE 0-380 IU/mL
IgG 650-1500 mg/dL
IgM 40-345 mg/dL
Iron 50-170 μg/dL
Lactate dehydrogenase, serum 45-90 U/L
Luteinizing hormone, serum/plasma Male: 6-23 mIU/mL
Female: follicular phase: 5-30 mIU/mL
midcycle: 75-150 mIU/mL
postmenopause 30-200 mIU/mL
Osmolality, serum 275-295 mOsmol/kd H2O
Parathyroid hormone, serume, N-terminal 230-630 pg/mL
Phosphatase (alkaline), serum (p-NPP at 30° C) 20-70 U/L
Phosphorus (inorganic), serum 3.0-4.5 mg/dL
Prolactin, serum (hPRL) < 20 ng/mL
Proteins, serum  
Total (recumbent) 6.0-7.8 g/dL
Albumin 3.5-5.5 g/dL
Globulin 2.3-3.5 g/dL
Thyroid-stimulating hormone, serum or plasma .5-5.0 μU/mL
Thyroidal iodine (123I) uptake 8%-30% of administered dose/24h
Thyroxine (T4), serum 5-12 μg/dL
Triglycerides, serum 35-160 mg/dL
Triiodothyronine (T3), serum (RIA) 115-190 ng/dL
Triiodothyronine (T3) resin uptake 25%-35%
Urea nitrogen, serum 7-18 mg/dL
Uric acid, serum 3.0-8.2 mg/dL
Hematologic Reference Range
Bleeding time 2-7 minutes
Erythrocyte count Male: 4.3-5.9 million/mm3
Female: 3.5-5.5 million mm3
Erythrocyte sedimentation rate (Westergren) Male: 0-15 mm/h
Female: 0-20 mm/h
Hematocrit Male: 41%-53%
Female: 36%-46%
Hemoglobin A1c ≤ 6 %
Hemoglobin, blood Male: 13.5-17.5 g/dL
Female: 12.0-16.0 g/dL
Hemoglobin, plasma 1-4 mg/dL
Leukocyte count and differential  
Leukocyte count 4,500-11,000/mm3
Segmented neutrophils 54%-62%
Bands 3%-5%
Eosinophils 1%-3%
Basophils 0%-0.75%
Lymphocytes 25%-33%
Monocytes 3%-7%
Mean corpuscular hemoglobin 25.4-34.6 pg/cell
Mean corpuscular hemoglobin concentration 31%-36% Hb/cell
Mean corpuscular volume 80-100 μm3
Partial thromboplastin time (activated) 25-40 seconds
Platelet count 150,000-400,000/mm3
Prothrombin time 11-15 seconds
Reticulocyte count 0.5%-1.5% of red cells
Thrombin time < 2 seconds deviation from control
Volume  
Plasma Male: 25-43 mL/kg
Female: 28-45 mL/kg
Red cell Male: 20-36 mL/kg
Female: 19-31 mL/kg
Cerebrospinal Fluid Reference Range
Cell count 0-5/mm3
Chloride 118-132 mEq/L
Gamma globulin 3%-12% total proteins
Glucose 40-70 mg/dL
Pressure 70-180 mm H2O
Proteins, total < 40 mg/dL
Sweat Reference Range
Chloride 0-35 mmol/L
Urine  
Calcium 100-300 mg/24 h
Chloride Varies with intake
Creatinine clearance Male: 97-137 mL/min
Female: 88-128 mL/min
Estriol, total (in pregnancy)  
30 wks 6-18 mg/24 h
35 wks 9-28 mg/24 h
40 wks 13-42 mg/24 h
17-Hydroxycorticosteroids Male: 3.0-10.0 mg/24 h
Female: 2.0-8.0 mg/24 h
17-Ketosteroids, total Male: 8-20 mg/24 h
Female: 6-15 mg/24 h
Osmolality 50-1400 mOsmol/kg H2O
Oxalate 8-40 μg/mL
Potassium Varies with diet
Proteins, total < 150 mg/24 h
Sodium Varies with diet
Uric acid Varies with diet
Body Mass Index (BMI) Adult: 19-25 kg/m2
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