Term
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Definition
• Cystic fibrosis (CF) is an inherited disorder of children and adults.
• CF is characterized mainly by obstruction and infection of the airway and maldigestion.
• A dysfunction of the epithelial surfaces is the primary pathogenesis.
• Deranged ions of chloride, bicarbonate, and sodium lead to thick secretions and elevated salt content of sweat glands.
• Responsible for very broad, often confusing array of manifestations and complications.
• May mimic other pediatric conditions such as failure to thrive (FTT), recurrent upper respiratory illness, cirrhosis, and metabolic abnormalities. |
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Term
| Cystic fibrosis Etiology/Prevalence |
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Definition
• Progressive, multi-system disease
• Autosomal recessive mode of transmission (abnormal gene passed from both parents)
• Most common lethal recessive disease affecting Caucasians (1:2500 live births)
• Black/Indian infants (1:15,000 live births)
• Asian infants (1:90,000 live births)
• Most prevalent among Northern and Central Europeans
• CF gene
- Located on long arm of chromosome 7 and affects a protein called the CF transmembrane regulator |
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Term
| cystic fibrosis Respiratory symptoms/findings |
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Definition
• Multiple systemic complications related to mucus, malabsorption, and infection
• Abnormally thick bronchial secretions leading to chronic infections, recurrent pneumonia, inflammation of the respiratory tract, and respiratory failure
• Chronic productive cough • Wheezing
• Dyspnea
• Hemoptysis
• Pneumothorax
• Hypertrophy of right ventricle
• Nasal polyps
• Respiratory failure |
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Term
| cystic fibrosis Gastrointestinal findings |
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Definition
• Due to insufficiency of exocrine pancreatic function (85% of cases)
• Symptoms
• Chronicdiarrhea
• Abdominalbloating
• Ravenousappetite
• Steatorrhea(fattymalodorousstools)
• Rectalprolapse
• Excessiveflatulence
• Meconiumileus(impactedmeconiumatbirth)
• Prolongedneonataljaundice
• Cholelithiasis(gallstones) |
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Term
| Cystic Fibrosis Other Clinical Findings |
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Definition
- Reproductive
• Males are usually infertile due to problems with sperm transport
• Females have decreased fertility due to cervical mucus thickness
- Skeletal
• Clubbing (due to hypoxia)
• Osteoporosis (due to vitamin deficiency)
- Hematologic
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• Anemia (decreased absorption)
• Easy bruising
-Electrolyte imbalance
• Dehydration
• Hypochloremia
• Hyponatremia
• Sweat gland abnormalities (taste salty with kissing) |
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Term
| Cystic Fibrosis pathophys |
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Definition
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Term
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Definition
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Term
| cystic fibrosis diagnostics |
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Definition
• Sweat chloride test (elevated >60mEq/L)
• Genotype testing
- Available for up to 62 of most common mutations
- Canbeusedin screening for families of patient with CF
criteria:
• Presence of typical
features or
• Sibling with CF or
• Positive newborn screening plus
• Evidence of CFTR
• Positive sweat chloride
test times 2 or
• Two mutations known to cause CF |
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Term
| Sweat Testing cystic fibrosis |
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Definition
• This procedure involves using a small electric current to carry pilocarpine into the forearm or upper back and stimulate the sweat glands.
• The sweat is collected on filter paper, then measured. (You need 50–100mg for accurate testing.)
• More than 60mEq/L is diagnostic.
• Positive results should be verified. |
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Term
cystic fibrosis Treatment
Acute exacerbation |
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Definition
• Antibiotic therapy—guided by results of sputum cultures
• Usually need to cover Pseudomonas, S. aureus, and H. influenza
• Corticosteroids can be used short term or long term to treat airway inflammation
• NSAIDs may slow progression of inflammatory process |
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Term
| cystic fibrosis Treatment |
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Definition
- Chest physiotherapy (physical therapy)
- Mucus thinning drugs (may help decrease frequency of acute exacerbations)
• N-acetylcystein
• Deoxyribonuclease
- Lung transplant (end-stage)
• When FEV (forced expiratory volume) is at 30–40% of predicted value
• May survive 5 years or more, but not expected to function for the lifetime. Demand clearly exceeds supply.
- Pancreatic insufficiency
• Pancreatic enzyme supplements to enhance absorption by breaking down fats, proteins, and carbohydrates
• Fat soluble vitamins ADEK |
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Term
| cystic fibrosis Prognosis |
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Definition
• It is a life-limiting disorder.
• Infants with severe lung disease usually die within first weeks of life.
• Most live into adolescence or early adulthood (rarely past age 35).
• Males tend to live longer than females.
• With appropriate medical and social support, most people with CF generally cope well and lead a typical life. |
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Term
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Definition
• Recognized by Western scientists in early 1900s, although seen in other parts of the world for centuries. Herrick coined the term “sickle cell” in 1910.
• Caused by a genetic defect in position 6 on the beta- chain. Substitution of valine for glutamic acid. This defect causes the abnormal beta chain to combine with an alpha chain to form HgbS.
• HgbS is poorly soluble, leading to the sickled appearance.
• This is a vaso-occlusive disorder, and can affect almost any organ system. |
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Term
| sickle cell disease Epidemiology/Prevalence |
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Definition
• Occursprimarilyinmalarialareas,including sub-Saharan Africa, Central India, Greece, Italy, and North Africa.
• Becauseoftheslavetrade,thereweremore cases of sickle cell disease seen in the Americas and Caribbean.
• MostcommoninpeopleofAfricandescent,but also seen in Hispanics, Arabians, Indians, and Caucasians.
• Today,1:625AfricanAmericaninfantsbornin the U.S. has sickle cell disease |
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Term
| sickle cell disease features |
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Definition
• Bone, chest, and abdominal pain
• Splenomegaly
• Dactylitis–inflammation of finger and toe bones
• Pulmonary infections (due to absence of normal spleen function and bone marrow suppression)
• CVA
• Newborns rarely are symptomatic, but develop anemia over first few months of life
• Predictors of severe disease are profound anemia, pain, and dactylitis before 1 year of age |
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Term
| sickle cell disease diagnosis |
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Definition
• Suspectinallpatientswhodisplayclinical manifestations
• CBCwithperipheralsmear
- Decreased H/H, decreased reticulocytes, may see Howell-Jolly bodies due to splenic infarction
• Hemoglobinelectrophoresis
• X-raysmaybehelpfulbutnotdiagnostic
• Sickledex
• IntheU.S.,allinfantstestedforsicklecell disease through newborn screening tests |
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Term
| sickle cell diseaes treatment |
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Definition
• Treatmentaimedatpreventingacutecrisis
• Immunizationsareessential
• Annualeyeexam(dilatedfundusexam)
• Folicacid400mcg—1mgdailyMVIwithoutiron
• BeginprophylactictreatmentwithPCNassoon as diagnosis is made
- Age 2 months—36 months PCN 125mg BID
- Age 36 months—5 years PCN 500mg BID
- Most providers stop prophylaxis at age 5 if child has not had severe illness
• Fever—children should be hospitalized. Look for source of infection and treat promptly.
• Pain—most children experience some degree of pain on a daily basis. Pain control requires close following and patience. Tylenol with codeine is a first-line agent, and stronger narcotics and opioids may be needed. NSAIDs can be useful for milder pain. Some children require a patient-controlled analgesia (PCA) pump. Other means of pain control such as singing, swaddling, and reading should be used if pain is minimal.
• Blood transfusion may be needed for CVA, severe anemia, and acutely enlarged spleen. |
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Term
| Sickle Cell Disease and caretakers |
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Definition
• Parents/caregiversneedtobewelleducatedon the disease process to know when the child could be heading into trouble.
• Theyneedtoknowhowtotakeareliable temperature, assess illness, palpate the spleen, and recognize symptoms of anemia and stroke.
• “Feverplan”—seekimmediatecarewitha temperature above 101.5
• Thisisadiseasethatimpactstheentirefamily; counseling is encouraged |
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Term
| sickle cell disease prognosis |
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Definition
• Survival depends on severity and number of crises per year.
• Chronic transfusions can be beneficial but beware of iron overload.
• Bone marrow transplantation can be curative but is only an option for children under age 16 with a matched sibling. (very risky)
• New investigations are pending. |
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Term
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Definition
• Much milder form of sickle cell hemoglobinopathy—only 25–40% HgbS.
• Diagnosed with hemoglobin electrophoresis. CBC is usually normal.
• In U.S., this affects about 7–9% of African Americans.
• These patients are not anemic and rarely develop symptoms. They lead relatively normal lives and have a normal life span.
• Complications include hematuria, splenic infarction (rare), sudden death (rare), and blindness from intraocular bleeding (rare).
• Greatest risk is to off-spring. |
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Term
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Definition
• Chromosomal abnormality called trisomy in which there are three representatives of a particular chromosome instead of two. The most common is Trisomy 21, or Down syndrome.
• This is the most recognizable genetic disorder.
• Other trisomies are Trisomy 13, Patau syndrome, Trisomy 18, Edwards syndrome and Trisomy 8, mosaicism. |
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Term
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Definition
• Twice as high among conception as it is with live births, meaning most pregnancies end in spontaneous abortion within first trimester.
• Occurs more commonly with advanced maternal age—therefore, women over the age of 35 are offered amniocentesis or serum alpha fetoprotein screening.
• Seen in 1/600 live births worldwide. |
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Term
| down syndrome clinical findings |
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Definition
• Hypotonia
• Flat face
• Slanted palpebral fissures
• Slanted epicanthic folds
• Flat nasal bridge
• Small mouth
• Low set ears
• Varied degree of MR
• Varied degree of growth delay
• Cardiac abnormalities (AV or septal defect)
• Simian crease
• Intestinal atresia
• Speckled iris called Brushfield spots
• Dwarfed appearance
• Atlanto-Axial instability |
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Term
| down syndrome findings image |
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Definition
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Term
| down syndrome palmar crease |
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Definition
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Term
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Definition
| Atlanto-Axial instability (measurement for sports) |
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Term
| Down Syndrome complicatins |
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Definition
• These children are at risk for hypothyroidism, so a TSH should be checked annually.
• Also at greater risk for Alzheimer’s-like dementia and leukemia (10x more likely).
• Most males are infertile. Most females have decreased fertility. |
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Term
| down syndrome diagnosis/treatment |
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Definition
• Diagnosis confirmed by chromosomal abnormalities, although can be suspected by physical findings
• Not curative
• Treat specific conditions
• Family genetic counseling advised
• Most children lead a relatively normal life depending on degree of MR |
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