Pulmonology Book

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Cystic Fibrosis

Aka: Cystic Fibrosis, Mucoviscidosis, Fibrocystic disease of pancreas
  1. See Also
    1. Cystic Fibrosis in Pregnancy
  2. Epidemiology
    1. Usually diagnosed in childhood
    2. Incidence in live births
      1. Caucasian: 1:1500 to 1:2000
      2. Black: 1:17000
      3. Asian: 1:90000
    3. Carrier rate: 4-5% of Caucasian population
  3. Pathophysiology
    1. Autosomal Recessive trait
    2. Exocrine gland disorder produces mucus blockage
      1. Blocks fine tubules in various organs
  4. Symptoms
    1. Respiratory
      1. Chronic Cough
        1. Productive of tenacious Sputum
      2. Wheezing
      3. Hemoptysis
      4. Dyspnea
    2. Gastrointestinal
      1. Voracious appetite
      2. Chronic Diarrhea
      3. Bulky malodorous stools
      4. Prolonged Neonatal Jaundice
      5. Unintentional Weight Loss
    3. Other
      1. Excessive sweating
      2. Positive Family History
  5. Signs
    1. Digital Clubbing
  6. Complications
    1. Respiratory
      1. Recurrent Pneumonia
      2. Chronic Bronchitis
      3. Recurrent Sinusitis and pansinusitis
      4. Nasal Polyps
      5. Bronchiectasis
      6. Pseudomonas colonization of respiratory tract
      7. Pneumothorax
      8. Respiratory Failure
    2. Gastrointestinal
      1. Meconium ileus
      2. Fecal Impaction
      3. Intussusception
      4. Volvulus
      5. Failure to Thrive
      6. Rectal Prolapse
    3. Other
      1. Cardiomegaly
      2. Diabetes Mellitus
      3. Metabolic abnormalities
        1. Hyponatremic dehydration
        2. Chronic Metabolic Alkalosis
      4. Infertility in males (azoospermia)
  7. Labs
    1. Sweat Test
    2. Delta F508
    3. Agar Plate hand test
      1. White palmar implant from Sweat Chloride
    4. Starch tolerance test
      1. Pancreatic Insufficiency
    5. Electrolytes
      1. Sodium and chloride normal
  8. Imaging
    1. Chest XRay
      1. Peribronchial cuffing
      2. Tram lines (Bronchial shadow lines)
      3. Fibrosis
      4. Recurrent infiltrates
      5. Pulmonary Blebs and bullae
    2. Abdominal XRay (KUB)
      1. Dilated loops of Small Bowel
  9. Management: CF Transmembrane Conductance Regulator (CFTR) Modulators
    1. Mechanism
      1. CF disease modifying agents
      2. Partially returns function of chloride channels, resulting in less mucus accumulation
    2. Preparations
      1. Trikafta (elexacaftor/tezacaftor/ivacaftor)
        1. Released in 2020, targets gene mutation found in 90% of CF patients (contrast with 50% for other agents)
      2. Kalydeco
      3. Orkambi
      4. Symdeko
    3. Dosing
      1. To maximize absorption, take with fat containing food such as peanut butter or avocado
      2. Also take with Pancreatic Enzymes (if already taking)
    4. Adverse Effects
      1. Expensive ($300,000 per year)
      2. Liver Function Test Abnormalities
    5. Drug Interactions
      1. Strong CYP3A4 Inducers
      2. Moderate to Strong CYP3A4 Inhibitors
    6. References
      1. (2020) presc lett 27(2):11
  10. Management: Airway management
    1. Airway clearance
      1. Percussion and postural drainage
      2. Active cycle breathing
      3. Positive expiratory pressure mask
      4. Autogenic drainage
      5. Flutter valve
      6. Pneumatic vest
    2. Mucus thinning drugs
      1. Pulmozyme 2.5 mg nebulized qd
      2. Efficacy maintained for up to 1 year of treatment
      3. Reduces rate of respiratory infection
      4. Improves pulmonary function
    3. Antibiotics: Nebulized Tobramycin
      1. Traditional Tobramycin
        1. Dose: 80 mg/2cc nebulized TID
      2. TOBI
        1. Dose: 300 mg/5cc nebulized bid via Pari LC Plus
        2. Cost: $2000/28 day supply
    4. Antibiotics: Pneumonia
      1. Under age 10 years: Multiple organisms
      2. Age 10 and older: Pseudomonas predominates
  11. Management: Nutritional Supplements
    1. Daytime
      1. Scandibar 350 cals/bar
      2. Scandishake 600 cals/8 oz (with WCM)
      3. Calories Plus 450 cals/8 oz (with water)
      4. Carnation Instant Breakfast 290 Cals/8 oz
    2. Nighttime drip
      1. Tolerex 1.0 cal/cc
      2. Vital 1.0 cal/cc
      3. Peptamen 1.0 cal/cc
      4. Criticare 1.0 cal/cc
  12. Management: Other
    1. Growth Hormone
      1. Improved Growth Velocity improves pulmonary function
      2. Results in reduced hospitalization rates
      3. Hardin (2006) J Clin Endocrinol Metab 91:4925-9 [PubMed]
    2. Lung Transplantation
      1. See Lung Transplantation in Cystic Fibrosis
    3. Advanced Directives
      1. Discuss end of life issues as part of routine Health Maintenance
  13. Management: Hospitalization Indications
    1. Increased cough
    2. Increased Sputum production or color change
    3. Anorexia and weight loss
    4. Exercise intolerance
    5. Malaise or irritability
    6. Decline in pulmonary function or CXR change
  14. References
    1. Fuchs and Yamamoto (2011) APLS, Jones and Bartlett, Burlington, p.76-9
    2. Acherman (1998) PREP Course, Phoenix
    3. Wallace (1993) Clin Pharm 12:657-74 [PubMed]

Cystic Fibrosis (C0010674)

Definition (MEDLINEPLUS)

Cystic fibrosis (CF) is an inherited disease of the mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses and sex organs. CF causes your mucus to be thick and sticky. The mucus clogs the lungs, causing breathing problems and making it easy for bacteria to grow. This can lead to problems such as repeated lung infections and lung damage.

The symptoms and severity of CF vary widely. Some people have serious problems from birth. Others have a milder version of the disease that doesn't show up until they are teens or young adults.

Although there is no cure for CF, treatments have improved greatly in recent years. Until the 1980s, most deaths from CF occurred in children and teenagers. Today, with improved treatments, some people who have CF are living into their forties, fifties, or older.

NIH: National Heart, Lung, and Blood Institute
Definition (MSHCZE) Zkr. CF, mukoviscidóza – autozomálně recesivně dědičné, relativně časté onemocnění žláz se zevní sekrecí. Problémem je defektní transport iontů zvyšující viskozitu sekretů exokrinních žláz. Mutován je gen pro CFTR na 7. chromozomu. Nápadná je vysoká koncentrace chloridů v potu (lze využít i diagnosticky, tzv. potní test). Porucha jejich funkce se projevuje zejm. v plicích (opakované záněty při ucpávání průdušek hleny, porucha dýchání, respirační insuficience), v trávicím ústrojí (porucha trávení při nedostatečnosti slinivky břišní). Bývá sterilita či snížená fertilita, vyšší je rovněž výskyt diabetu (srov. CFRD). Navazují i příznaky podmíněné malabsorpcí. Některé z těchto příznaků vystupují do popředí s prodlužujícím se životem postižených. V terapii jsou důležitá antibiotika, péče o drenáž dýchacích cest, symptomatická terapie trávicích obtíží, péče o výživu, ev. protizánětlivé léky; z moderních postupů transplantace plic a v budoucnosti genová terapie. Projevuje se od raného dětství, dř. se děti nedožily puberty, v dnešní době se s intenzivní terapií většina dožívá dospělosti. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (NCI_NCI-GLOSS) A common hereditary disease in which exocrine (secretory) glands produce abnormally thick mucus. This mucus can cause problems in digestion, breathing, and body cooling.
Definition (NCI) A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather.
Definition (MSH) An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.
Definition (CSP) most common potentially lethal autosomal recessive disease affecting Caucasians; characterized by chronic pulmonary, intestinal, liver, pancreatic, and exocrine gland dysfunction; caused by mutations of the CFTR chloride channel.
Concepts Disease or Syndrome (T047)
MSH D003550
ICD9 277.0
ICD10 E84, E84.9
SnomedCT 85809002, 190911006, 154767009, 190905008
LNC LP56779-9, MTHU021607, LA12537-9
English Cystic Fibrosis, Mucoviscidosis, Fibrosis, Cystic, Cystic fibrosis NOS, Cystic fibrosis, unspecified, CYSTIC FIBROSIS, MUCOVISCIDOSIS, cystic fibrosis, cystic fibrosis (diagnosis), CF (cystic fibrosis), Cystic Fibrosis [Disease/Finding], cystic disorder fibrosis, Disease;fibrocystic, cystic fibrosis (CF), diseases fibrocystic, fibrocystic disease of pancreas, disease fibrocystic, cystic fibrosis pancreas, disease fibrocystic pancreas, pancreas cystic fibrosis, Cystic fibrosis NOS (disorder), Fibrocystic disease, Cystic fibrosis, CF, CF - Cystic fibrosis, Cystic fibrosis (disorder), mucoviscidosis, cystic; fibrosis, disease; fibrocystic, fibrocystic; disease, fibrosis; cystic, Cystic fibrosis (disorder) [Ambiguous], fibrocystic disease
French MUCOVISCIDOSE, Fibrose kystique, Mucoviscidose SAI, Mucoviscidose
Portuguese MUCOVISCIDOSE, Fibrose quística NE, Fibrose cística, Fibrose Cística, Mucoviscidose
Spanish MUCOVISCIDOSIS, Fibrosis quística NEOM, fibrosis quística, SAI, fibrosis quística, SAI (trastorno), mucoviscidosis, SAI, FQ, enfermedad fibroquística, fibrosis quística (concepto no activo), fibrosis quística (trastorno), fibrosis quística, mucoviscidosis, Fibrosis quística, Mucoviscidosis, Fibrosis Quística
Dutch cystische fibrose NAO, mucoviscidose, cystisch; fibrose, fibrocysteus; ziekte, fibrose; cystisch, ziekte; fibrocysteus, Cystische fibrose, niet gespecificeerd, cystische fibrose, Cystische fibrose, Fibrose, cystische, Mucoviscidose, Taaislijmziekte
German zystische Fibrose NNB, MUKOVISZIDOSE, Zystische Fibrose, nicht naeher bezeichnet, zystische Fibrose, Mucoviscidosis, Mukoviszidose, Pankreasfibrose, zystische, Zystische Fibrose, Zystische Pankreasfibrose
Italian Fibrosi cistica NAS, Mucoviscidosi, Fibrosi cistica
Japanese 嚢胞性線維症ＮＯＳ, ﾉｳﾎｳｾｲｾﾝｲｼｮｳNOS, ﾉｳﾎｳｾｲｾﾝｲｼｮｳ, 膵線維症, 嚢胞性線維症, ｽｲｾﾝｲｼｮｳ, のう胞性線維症, のう胞性膵線維症, ムコビシドーシス, 嚢胞性膵線維症, 線維性嚢胞膵症, 膵のう胞性線維症, 膵嚢胞性線維症, 膵臓線維症
Swedish Cystisk fibros
Czech mukoviscidóza, cystická fibróza, Mukoviscidóza, Cystická fibróza, Cystická fibróza NOS
Finnish Kystinen fibroosi
Russian PANKREATICHESKII KISTOZNYI FIBROZ, PANKREOFIBROZ, KISTOZNYI FIBROZ, MUKOVISTSIDOZ, FIBROZNO-KISTOZNAIA BOLEZN' PODZHELUDOCHNOI ZHELEZY, КИСТОЗНЫЙ ФИБРОЗ, МУКОВИСЦИДОЗ, ПАНКРЕАТИЧЕСКИЙ КИСТОЗНЫЙ ФИБРОЗ, ПАНКРЕОФИБРОЗ, ФИБРОЗНО-КИСТОЗНАЯ БОЛЕЗНЬ ПОДЖЕЛУДОЧНОЙ ЖЕЛЕЗЫ
Korean 상세불명의 낭성 섬유증, 낭성 섬유증
Croatian CISTIČNA FIBROZA
Polish Torbielowate zwłóknienie trzustki, Choroba włóknisto-torbielowa trzustki, Mukowiscydoza
Hungarian ((clarke-hadefield syndroma)), Cystikus fibrosis k.m.n., Cystikus fibrosis
Norwegian Cystisk fibrose, Mukoviskidose, Mucoviscidosis
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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