Neonatal/Pediatric SIDS, Cystic Fibrosis - Amarillo College · PDF fileSIDS, CF 1 1...

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Transcript of Neonatal/Pediatric SIDS, Cystic Fibrosis - Amarillo College · PDF fileSIDS, CF 1 1...

  • SIDS, CF

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    Neonatal/PediatricCardiopulmonary Disease

    SIDS, Cystic Fibrosis

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    Sudden Infant DeathSyndrome(SIDS)

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    Review

    Apnea Cessation of respiratory airflow Central

    Obstructive

    Mixed

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    Review

    Apnea Not all pauses are abnormal Abnormal if cyanosis, bradycardia, or

    >20 sec.

    Abnormal apnea is a clinical sign ofsome underlying pathology & not a finaldiagnosis

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    SIDS

    Is a Dx made post mortem whenever apreviously healthy infant dies suddenly &unexpectedly during sleep and

    Autopsy cannot reveal an adequateexplanation

    Vast majority of infants dying from SIDShave no Hx of apnea

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    SIDS

    Crib Death Worldwide problem (in western nations =

    leading cause of death in ages )

    2/1000 live births No cause has been established although

    are many theories

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    Patterns

    Maternal characteristics Infant characteristics at birth Infant characteristics near time of death

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    Maternal Characteristics

    < Black, Native American or Alaskan Smokes cigarettes (major factor, includes

    passive smoke)

    Ill during Inadequate

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    Infant Characteristics (atBirth)

    Low Resuscitated with 2nd or 3rd in birth or of multiple

    pregnancy Previous siblings who

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    Infant Characteristics(Near Death)

    Age

    Mild illness in

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    Classic victim is a premature black maleinfant born to a poor, young mother who

    did not receive prenatal care. Deathoccurred between 1-3 mo., in the winter,

    while the infant was sleeping at night.

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    No evidence that SIDS is genetic althoughdoes seem to be increased risk in survivorof twins

    Have been several reported cases offamilies with 3 or more SIDS deaths but inall circumstances, it was determined thatcause of death was asphyxia (child abuse)

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    Post-Mortem Pathology

    No uniform data ~ 2/3

    Hyperplasia of brainstem astroglia & smoothmuscle in pulm arteries which suggests thathypoxia or ischemia occurred for long periodsbefore death

    Mild inflammation of resp tract Intrathoracic petechiae

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    Post-Mortem Pathology

    No histological data suggests deathsfrom cardiac dysrythmia

    No differences found in serum ortissue chemistries when compared toinfants who died of known causes

    Negative analysis for toxins or drugs

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    Since final common event is cessation ofbreathing, much interest has focused onwhether the previously healthy SIDSvictims have had asymptomatic mild,abnormal control of respiration beforedeath

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    Respiratory Control

    Highly complex involving CNS integrationof afferent neural signals from peripheralreceptors which sense physical &chemical changes in the body

    Signals are followed by coordination ofrespiratory muscle activity

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    Respiratory Control

    Proper function of this respiratory controlsystem is altered by

    Impossible to prove since dont knowSIDS victims ahead of time

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    Approaches to Study #1

    Studied the ventilatory responses to hypoxia &hypercapnia in siblings & parents of SIDSvictims

    Did not identify any consistent abnormalities thatwould warrant testing of families or infants toidentify future victims

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    Approaches to Study #2

    In England - performed 24-hour recordings of RR & HR on 6914full-term infants & 2337 premature & low birth weight infants

    27 later died from SIDS - review of recordings showed noprolonged apnea or bradycardia

    Computer-assisted analysis of all 9251 recordings have shownthat 2 SIDS victims had an abnormally high incidence of shortapnea + 2 SIDS victims had an abnormal incidence of tachycardia

    23 of the 27 SIDS victims had no abnormalities

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    Approaches to Study #3

    Other studies have looked at cardiorespiratorycontrol of infants who have suffered an ALTE(Apparent Life-Threatening Experience = experience that isfrightening to the observer & is characterized by somecombination of apnea, cyanosis, pallor or marked change inmuscle tone, usually limpness - observer usually reports thatif he/she had not intervened, the infant would have died)

    Problem with studying these infants is that not all of

    them are near-miss SIDS

    Not surprising - no consistent abnormalities ofcardiorespiratory control have been identified

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    Current Theories

    Botulism poisoning ruled out Prolonged Q-T interval Increased levels of interleukin-6 in CSF Surfactant abnormalities GE reflux Abnormal pulmonary inflammatory response Maternal cocaine use Basement membrane thickening of vocal cords

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    Conclusions

    So where are we??

    In the meantime ------

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    Victims families need help to cope withgrief, shock, anger, guilt, anxiety

    Support group are located t/o USA

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    Most centers prescribe immediate,continual monitoring for surviving twin,triplets, etc. HR, RR, SpO2 Apnea monitoring (impedance pneumography)

    which has not been shown to incidence

    Polysomnography (in hospital)

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    Nation-wide campaign Back to Sleephas reduced incidence of SIDS but we arenow seeing mal-shaped heads as a resultof always sleeping on the back

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    Cystic Fibrosis

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    CF

    = hereditary disease affecting all exocrineglands (esp. GI tract & lungs) causingthick, copious secretions

    Defect in a single gene on chromosome 7 70% of all CF patients have this defect of a

    triplet nucleotide deletion at the 508th aminoacid =

    Over 100 mutations, ex. R117H Any mutation = a bad copy of the good gene

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    CF

    Majority of CF cases get a bad copy fromMom & 1 from Dad (not necessarily thesame defect)

    Recessive gene Both parents must be carriers (4% of all people) Each pregnancy carries 25% chance of CF

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    CF

    Unfortunately, even having one badcopy, while not full-blown CF, can causeCF-like problems

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    CF

    The good gene gene encodes a membraneprotein called cystic fibrosis transmembraneconductance regulator (CFTR) CFTR regulates the flow of ions (sodium, chloride)

    through exocrine glands unable to regulate the saltcomposition of secretions insufficient secretion offluid & inadequate hydration thickened secretionsof pancreas, lungs, liver, gallbladder, reproductiveorgans, sweat glands

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    CF

    Males = females 1/1500-2000 births Most common life-threatening chronic

    pulmonary disease in children

    Problems have been somewhat minimized dueto Increased knowledge of intestinal problems Availability of pancreatic enzymes Vitamin supplements Low-fat diets

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    CF

    Greatest threat to life is Progressive pulmonary involvement

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    Medical History

    Failure to thrive

    Recurrent pulmonary infections Recurrent sinusitis Development of nasal polyps Sterility

    Women- Men-

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    Sign & Symptoms

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    Sign & Symptoms

    Late disease - ABGs

    Early disease -

    Late disease -

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    Sign & Symptoms

    CXR

    PFT

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    MB

    MB is a 6 yof who was brought to the pulmonary clinicby her parents for the first time with complaints ofdyspnea and a productive cough. She has had aproductive cough for a couple of years and periodicallydeveloped yellow or green sputum and occasionalhemoptysis. These symptoms were attributed tobronchiectasis, and her parents were told she hadasthma as well. She also has had several respiratoryinfections requiring hospitalization. Her home therapyincludes inhaled albuterol and occasional antibiotictherapy. She has had no regular pulmonary hygieneprogram.

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    MB

    Three weeks before admission she developedincreasing cough producing greenish sputum. Herparents have also noticed increasing dyspnea andwheezing. Her family physician gave her a prescriptionfor ciprofloxacin 500 mg BID but her symptomsprogressed despite this therapy. This was the 3rd suchepisode MB has experienced in the last year. Herprecious episodes were successfully treated with oralciprofloxacin. She has also had difficulty maintainingweight and is below her ideal weight. She did havefever, chills, pharyngitis, purulent nasal discharge. Shehas had no problems with steatorrhea, nasal polyps, orsinus infections.

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    MB

    MBs parents do not smoke. She has a youngersister who has CF and an older brother who ishealthy. Her father has a chronic problem withbronchiectasis that began as a teenager. MBhas been tested for CF using a sweat chlorideconcentration when she was first diagnosed withbronchiectasis. Her sweat chlorideconcentration was 57 mEq/liter.

    What features of this patients history supportthe diagnosis of cystic fibrosis?

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    MB

    Which parts of MBs history suggest that shedoes not have CF?

    Does her sweat chloride concentration help toclarify whether or not she has CF?

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    MB

    What findings would you expect to find onphysical exam if this patient has CF?

    What additional testing would be appropriate tosupport or refute the diagnosis of CF?