Cystic Fibrosis and Primary Ciliary Dyskinesia - VOCABULARY Flashcards

Vocabulary flashcards covering CF/PCD pathophysiology, diagnosis, management, ABPA, NTM, CFRD, and related topics from the lecture. Use these to memorize core terms and their definitions for exam preparation.

Cystic fibrosis (CF)

Autosomal recessive disorder caused by CFTR gene mutations leading to thick, dehydrated airway secretions and multisystem involvement (lungs, pancreas, liver, etc.).

CFTR gene

Gene encoding a chloride/bicarbonate channel; mutations disrupt salt and fluid transport across epithelia, causing thick mucus.

CFTR modulators

Drugs that improve CFTR protein function (e.g., ivacaftor; lumacaftor+ivacaftor; tezacaftor+elexacaftor+ivacaftor).

Ivacaftor (Kalydeco)

CFTR potentiator that increases the probability the chloride channel stays open, improving chloride transport.

Lumacaftor

CFTR corrector that helps the CFTR protein fold and reach the cell surface; used in combination therapies.

Tezacaftor

CFTR corrector used in combination regimens to improve CFTR trafficking to the cell surface.

Elexacaftor

CFTR corrector used in triple-combination therapy with tezacaftor and ivacaftor for many F508del cases.

Trikafta

Triple CFTR modulator combo (elexacaftor+tezacaftor+ivacaftor) effective for one or two copies of F508del.

F508del

Most common CF-causing CFTR mutation; class II defect with misfolded protein; target of many modulators.

Sweat chloride test

Gold-standard CF diagnostic test measuring sweat Cl-; ≥60 mmol/L supports CF; 30–59 mmol/L indeterminate; <30 normal.

IRT (immunoreactive trypsinogen)

Screening biomarker used in CF newborn screening; elevated IRT prompts CFTR testing.

Newborn CF screening (NBS)

Screening program using IRT and CFTR mutations; may lead to CFSPID/CRMS classification if inconclusive.

CRMS/CFSPID

CFTR-related metabolic syndrome or CF screen positive inconclusive diagnosis; positive screen with inconclusive CF criteria.

ABPA

Allergic bronchopulmonary aspergillosis; IgE-mediated hypersensitivity to Aspergillus fumigatus, common in CF and asthma.

ISHAM-ABPA criteria

Diagnostic framework: predisposing condition, essential IgE to A. fumigatus, total IgE ≥500 IU/mL, plus two of IgG to A. fumigatus, eosinophils >500, or CT findings.

ABPA-S/ABPA-B/ABPA-MP/ABPA-HAM/ABPA-CPF

Radiologic ABPA categories on CT: ABPA-S serological, ABPA-B bronchiectasis, ABPA-MP mucus plugging, ABPA-HAM high-attenuation mucus, ABPA-CPF chronic fibrotic changes.

Non-tuberculous mycobacteria (NTM)

Environmental mycobacteria (e.g., MAC, M. abscessus) that can cause pulmonary disease in CF; require multi-drug therapy.

MAC (Mycobacterium avium complex)

Slow-growing NTM complex including M. avium and related species; common NTM in CF.

M. abscessus

Rapid-growing NTM causing difficult-to-treat pulmonary disease in CF; often requires IV antibiotics and combination regimens.

NTM treatment phases

Intensive phase (IV antibiotics +/- oral macrolide) followed by continuation phase (oral macrolide with inhaled amikacin and additional oral agents) guided by susceptibility.

CFRD

Cystic fibrosis–related diabetes; predominately insulin insufficiency with variable insulin resistance; diagnosed by OGTT thresholds.

OGTT thresholds (CFRD)

Fasting glucose ≥126 mg/dL (7.0 mmol/L) or 2-hour glucose ≥200 mg/dL (11.1 mmol/L); HbA1c ≥6.5%; clinical illness may modify thresholds.

PERT

Pancreatic enzyme replacement therapy; lipase, protease, amylase; dosing by fat grams or weight; max ~10,000 lipase units/kg/day; risk of fibrosing colonopathy at very high doses.

Fibrosing colonopathy

Fibrosis/ thickening of the colon wall linked to high-dose pancreatic enzymes; presents with abdominal pain, distension, and potential obstruction.

CFLD

CF-related liver disease; spectrum from elevated liver enzymes to multilobular cirrhosis; may require ursodiol, portal hypertension management, or transplant consideration.

DIOS

Distal intestinal obstruction syndrome; CF-related obstruction of the distal ileum/colon due to thick secretions; treated with PEG, water-soluble contrast enema.

PEP therapy

Positive expiratory pressure therapy; airway clearance device creating back pressure to keep airways open and mobilize secretions.

LCI (lung clearance index)

MBW-derived index reflecting ventilation inhomogeneity; more sensitive than FEV1 for early CF lung disease, especially peripheral airways.

MBW (multiple breath washout)

Lung function test measuring ventilation distribution using tracer gas washout; used in CF especially in young children.

FEV1 transplant criteria (CF)

Indications include FEV1 <50% with rapid decline, or <40% with markers of shortened survival (e.g., 6MWT <400 m, hypoxemia, hypercarbia, pulmonary hypertension).

Hypertonic saline (3–7%)

Osmotic airway humidification therapy that increases airway surface liquid, improving mucus clearance; may cause cough/bronchospasm.

Dornase alfa (DNase)

Recombinant DNase (Pulmozyme) that degrades extracellular DNA in purulent sputum, reducing viscosity and improving clearance.

Pseudomonas aeruginosa (CF)**

Major CF pathogen; forms biofilms; chronic infection drives inflammation and lung damage; treated with inhaled antibiotics.

Burkholderia cepacia complex

Virulent CF pathogen; associated with cepacia syndrome and rapid decline; strict infection control and monitoring required.

Nasal NO

Nitric oxide produced in nasal passages; typically very low in CF and PCD; low nasal NO supports PCD, though not diagnostic alone.

ODA/IDA defects

Ultrastructural ciliary defects: Outer dynein arm (ODA) and inner dynein arm (IDA) abnormalities cause PCD.

9+2 axoneme

Standard motile ciliary architecture: 9 outer doublets around 2 central microtubules; critical for coordinated beating.

DNAH11 mutation

Common PCD-associated mutation with normal ultrastructure but abnormal ciliary function in many cases.

PCD diagnostic features

Neonatal respiratory distress, year-round nasal congestion, year-round productive cough in infancy, and left-right (situs) anomalies; presence of 2 of 4 features increases diagnostic likelihood.

Central complex defect

PCD ultrastructural defect category; less definitive than classic dynein arm defects; may require additional supporting evidence.

Nexin-dynein regulatory complex (N-DRC)

Axonemal structure important for dynein regulation; defects contribute to PCD.

Central hypoxemia and HOT (home oxygen therapy)

Oxygen therapy delivered at home for chronic hypoxemia (e.g., CF/BPD); defined by SpO2 thresholds and duration; improves exercise tolerance and sleep for some.

Kendig’s review topics

Comprehensive CF/PCD literature covering pathophysiology, diagnostics, management, and non-pulmonary manifestations.

CFTR-related disorders (CRMS/CFSPID)

CFTR-related conditions with inconclusive CF diagnosis; may evolve to CF with time or remain CRMS/CFSPID.

Anatomical laterality defects

Abnormal left-right organ placement (e.g., situs inversus) common in PCD and a feature aiding diagnosis.

Exacerbation treatment in CF

Antibiotics (often IV for severe cases) plus airway clearance; consider bronchodilators and mucolytics as adjuncts.

Bronchiectasis (non-CF) vs CF

Chronic dilatation of bronchi with mucus plugging; CF typically affects upper lobes, non-CF bronchiectasis often middle/lower lobes.

Antenatal CF testing

Chorionic villus sampling or amniocentesis for CFTR variants; pre-implantation testing as an alternative; assessing fetal CFTR status.

6-minute walk test (6MWT)

Functional exercise test used to evaluate transplant suitability and pulmonary reserve; distance and oxygenation are recorded.

Serology vs culture in ABPA/ABPM

Serological ABPA relies on IgE/IgG to Aspergillus; ABPM requires mycological evidence plus imaging and IgE criteria.

ISOTHERAP/ISHAM vs ATS guidelines

Different professional group guidelines for ABPA/ABPM diagnosis and management; ISHAM-ABPA provides standardized criteria; ATS provides broader respiratory disease guidance.

Saliva and GI involvement in CF

CFTR dysfunction affects pancreas, liver, and GI tract causing DIOS, pancreatitis, CFLD, and malabsorption; nutrition is critical for lung outcomes.

Immunizations in CF

Annual influenza, pneumococcal vaccines (PCV13/ PPSV23), and other routine vaccines recommended for CF patients to reduce infection risk.

NBS misclassification risk

CRMS/CFSPID can be misinterpreted; ongoing follow-up and repeat testing recommended to reclassify as CF or non-CF.

LTBI vs ABPA overlap

ABPA can mimic or coexist with CF lung disease; CT features (central opacities, mucus plugging, HAM) help distinguish ABPA from other pathologies.

Therapeutic targets in CF airway

Macrolide anti-inflammatory effects (e.g., azithromycin) and airway clearance strategies reduce exacerbations and improve function.