Добавил:
Sekretar
kiopkiopkiop18@yandex.ru
t.me/Prokururor I Вовсе не секретарь, но почту проверяю
Опубликованный материал нарушает ваши авторские права? Сообщите нам.
Вуз:
Предмет:
Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_2693_Библиотеки_им_академика_М_И_Перельмана.pdf
384
R. M. Cantor et al.
Primary Differential Considerations
• Other muscular dystrophies must be considered; the most common is Becker
muscular dystrophy. Muscle biopsy can differentiate among these and other
diagnoses.
Algorithm to guide diagnostic workup in suspected DMD/BMD patients for conrmation of dystrophinopathy diagnosis. For patients diagnosed by muscle biopsy,
dystrophin genetic testing is also necessary. For patients diagnosed by genetic testing, muscle biopsy is not necessary, and if at all possible, defer muscle biopsy until
patient participates in a later clinical trial. DMD Duchenne muscular dystrophy,
BMD Becker muscular dystrophy, CK creatine kinase [Sahenk Z, Rodino-Klapac
LR. Dystrophinopathies. In: Katirji B, Kaminski HJ, Ruff RL, editors.
Neuromuscular Disorders in Clinical Practice [Internet]. NewYork, NY: Springer
New York; 2014 [cited 2016 Aug 1]. p. 1207–29. Available from: http://link.
springer.com/10.1007/978-1-4614-6567-6_56] Caption adapted from original
History andPhysical Exam
Findings That Conrm Diagnosis
• Common ndings include a wide-based gait, lumbar lordosis, pseudohypertrophy of the calf muscles, shortening of the Achilles tendons, and hyporeexia or areexia.
• Depending on the degree of scoliosis, respiratory function may be
compromised.
25 Duchenne Muscular Dystrophy
Factors That Suggest Diagnosis
• Most children will have already been diagnosed prior to their rst Emergency
Department encounter.
Factors That Exclude Diagnosis
• No clinical ndings can exclude DMD in patients with suggestive ndings. A
muscle biopsy is required.
Ancillary studies
Electrocardiography
• As previously mentioned, a variety of arrhythmias may occur, particular
supraventricular.
385
386
R. M. Cantor et al.
Electrocardiogram of female carrier of Duchenne dystrophy gene [Perloff J,
Abelmann W.Chapter 6. In: Lee RT, Braunwald E, editors. Atlas of cardiac imaging. Philadelphia: Current Medicine; 1998. ISBN: 0-443-07567-0] Caption from
original
Electrocardiogram of Duchenne dystrophy in 10-year-old boy [Perloff J, Abelmann
W. Chapter 6. In: Lee RT, Braunwald E, editors. Atlas of cardiac imaging.
Philadelphia: Current Medicine; 1998. ISBN: 0-443-07567-0] Caption from
original
Laboratory
• Patients with DMD will have elevated levels of serum creatine kinase.
• These elevations may occur prior to the appearance of clinical disease.
• Levels peak in early childhood but may actually normalize as damaged muscle bers are replaced by brotic change.
25 Duchenne Muscular Dystrophy
Special Populations
Age
• DMD is identied in early life. The usual life expectancy of patients with
DMD is about 25 years.
Co-morbidities
• None signicant
Pitfalls inDiagnosis
Critical Steps Not toMiss
• It is most important to anticipate the variable forms of target organ dysfunction that accompany DMD patients.
• Complications of respiratory compromise are the most frequent etiologies of
emergency department visits.
• Aspiration pneumonia and cases of primary bacterial pneumonia are commonly encountered.
• Use extreme caution when providing sedation and analgesia to DMD patients.
• DMD patients are susceptible to the development of malignant hyperthermia,
specically associated with administration of succinylcholine and inhalational agents.
387
Mimics
• In general, these patients are already diagnosed prior to ED presentation.
Time-Dependent Interventions
• Depending on the particular complication, early administration of uids and
broad-spectrum antibiotics are indicated.
388
R. M. Cantor et al.
Overall Principles ofTreatment
• As mentioned, most ED cases necessitate pulmonary support and attention to
obvious complications.
Disease Course
• Sadly, most children with DMD are conned to a wheelchair by early
adolescence.
• Death usually occurs by early adulthood, and is caused by cardiopulmonary
insufciency.
Related Evidence
Papers of particular interest have been highlighted as:
** Of key importance
Practice Guideline
Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A,
Kinnett K, McDonald C, Pandya S, Poysky J, Shapiro F, Tomezsko J,
Constantin C; DMD Care Considerations Working Group. Diagnosis and
management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010 Jan;9(1):77-93.
https://doi.org/10.1016/S1474-4422(09)70271-6. PMID: 19945913. http://
www.ncbi.nlm.nih.gov/pubmed/19945913 **
Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett
K, McDonald C, Pandya S, Poysky J, Shapiro F, Tomezsko J, Constantin C; DMD
Care Considerations Working Group. Diagnosis and management of Duchenne
muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet
Neurol. 2010 Feb;9(2):177-89.
PMID: 19945914. http://www.ncbi.nlm.nih.gov/pubmed/19945914 **
Birnkrant DJ, Panitch HB, Benditt JO, Boitano LJ, Carter ER, Cwik VA, Finder JD,
Iannaccone ST, Jacobson LE, Kohn GL, Motoyama EK, Moxley RT, Schroth
MK, Sharma GD, Sussman MD.American College of Chest Physicians consensus statement on the respiratory and related management of patients with
Duchenne muscular dystrophy undergoing anesthesia or sedation. Chest. 2007
Dec;132(6):1977- 86. PMID: 18079231. http://www.ncbi.nlm.nih.gov/
pubmed/18079231 **
https://doi.org/10.1016/S1474-4422(09)70272-8.
25 Duchenne Muscular Dystrophy
389
American Academy of Pediatrics Section on Cardiology and Cardiac Surgery.
Cardiovascular health supervision for individuals affected by Duchenne or
Becker muscular dystrophy. Pediatrics. 2005 Dec;116(6):1569-73. PMID:
16322188.
http://www.ncbi.nlm.nih.gov/pubmed/16322188 **
Review
Annexstad EJ, Lund-Petersen I, Rasmussen M.Duchenne muscular dystrophy. Tidsskr
Nor Laegeforen. 2014 Aug 5;134(14):1361-4. https://doi.org/10.4045/tidsskr.13.0836.
PMID: 25096430. http://www.ncbi.nlm.nih.gov/pubmed/25096430 **
Chelly J, Desguerre I. Progressive muscular dystrophies. Handb Clin Neurol.
2013;113:1343-66. https://doi.org/10.1016/B978-0-444-59565-2.00006-X.
PMID: 23622359. http://www.ncbi.nlm.nih.gov/pubmed/23622359 **
Verma S, Anziska Y, Cracco J.Review of Duchenne muscular dystrophy (DMD) for
the pediatricians in the community. Clin Pediatr (Phila). 2010 Nov;49(11):1011- 7.
https://doi.org/10.1177/0009922810378738. PMID: 20724320. http://www.
ncbi.nlm.nih.gov/pubmed/20724320
Centers for Disease Control and Prevention (CDC). Prevalence of Duchenne/Becker
muscular dystrophy among males aged 5-24 years- four states, 2007. MMWR
Morb Mortal Wkly Rep. 2009 Oct 16;58(40):1119-22. PMID: 19834452. http://
www.ncbi.nlm.nih.gov/pubmed/19834452
Hayes J, Veyckemans F, Bissonnette B.Duchenne muscular dystrophy: an old anes-
thesia problem revisited. Paediatr Anaesth. 2008 Feb;18(2):100-6. https://doi.
org/10.1111/j.1460-9592.2007.02302.x. PMID: 18184239. http://www.ncbi.
nlm.nih.gov/pubmed/18184239
Manzur AY, Kuntzer T, Pike M, Swan A. Glucocorticoid corticosteroids for
Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2008 Jan
23;(1):CD003725. https://doi.org/10.1002/14651858.CD003725.pub3. PMID:
18254031. http://www.ncbi.nlm.nih.gov/pubmed/18254031
Deconinck N, Dan B.Pathophysiology of duchenne muscular dystrophy: current
hypotheses. Pediatr Neurol. 2007 Jan;36(1):1-7. PMID: 17162189. http://www.
ncbi.nlm.nih.gov/pubmed/17162189 **
Sanger TD, Chen D, Delgado MR, Gaebler-Spira D, Hallett M, Mink JW; Taskforce
on Childhood Motor Disorders. Denition and classication of negative motor
signs in childhood. Pediatrics. 2006 Nov;118(5):2159-67. PMID: 17079590.
http://www.ncbi.nlm.nih.gov/pubmed/17079590 **
Nowak KJ, Davies KE.Duchenne muscular dystrophy and dystrophin: pathogene-
sis and opportunities for treatment. EMBO Rep. 2004 Sep;5(9):872-6. PMID:
15470384. http://www.ncbi.nlm.nih.gov/pubmed/15470384 **
Emery AE. The muscular dystrophies. Lancet. 2002 Feb 23;359(9307):687-95.
PMID: 11879882. http://www.ncbi.nlm.nih.gov/pubmed/11879882
**
Use PubMed Clinical Queries to nd the most recent evidence. Use this search
strategy:
“Muscular Dystrophy, Duchenne”[Mesh] OR “Duchenne muscular dystrophy”
Chapter 26
Epiglottitis
RichardM.Cantor, CharlesV.Pollack,Jr., andVictoriaG.Riese
Name andSynonyms
• Epiglottitis (Supraglottitis)
Incidence/Epidemiology
• There has been a marked decrease in cases since the introduction of the Hib
vaccine.
• According to current estimates, in the United States 1.6 cases occur per
100,000 adults, and 0.5 cases occur per 100,000 children.
• As a result of immunization practices, the median age of children presenting
with epiglottitis has increased from 3 years to 6–12 years of age.
R. M. Cantor
Department of Emergency Medicine and Pediatrics, State University of NewYork Upstate
Medical University, Syracuse, NY, USA
C. V. Pollack,
Department of Emergency Medicine, Thomas Jefferson University,
Philadelphia, PA, USA
V. G. Riese
Librarian Consultant, Eldersburg, MD, USA
C. V. Pollack, Jr. (ed.), Differential Diagnosis of Cardiopulmonary Disease,
https://doi.org/10.1007/978-3-319-63895-9_26
Jr. ()
391© Springer Nature Switzerland AG 2019
392
Differential Diagnosis
• Other causes of acute upper airway obstruction must be considered:
• Croup
• Bacterial tracheitis
• Peritonsillar abscess
• Retropharyngeal abscess
• Upper airway foreign body
• Congenital upper airway anomalies
Croup Epiglottitis
Cause Viral Bacterial
Age 6 mo to 3 y 4–6 y
Site of obstruction Subglottic Supraglottic
Clinical features
Onset Gradual (days) Sudden (hours)
Fever
Dysphagia,
drooling
Cough Barking, dry cough Not common
Respiratory rate
Position Normal Sitting upright
Appearance Mild distress Toxic appearing
Quality of voice Hoarseness Muffled
Primary
Treatment
Hydration Needed Needed
Antibiotics Not Needed
Airway support Not Needed Always needed
Extubation Not Needed
With or without low grade
fever
↑
Supportive: Secure airway:
High fever (> 102°F)
Present
Normal
Needed to treat Haemophilus influenza
When temperature decreases and with leak around the
endotracheal tube
R. M. Cantor et al.
Differential diagnosis of croup vs epiglottitis. The two most common infectious
causes of upper airway obstruction in children, croup and epiglottitis, differ in etiology, patient demographics, and symptomatology. [Rasmussen G, Deshpande
J.Pediatric anesthesia. In: Muravchick S, editor. Subspecialty care. Philadelphia:
Current Medicine; 1998. 236 p. (Miller RD editor, Atlas of anesthesia; vol. 5).
ISBN: 0-443-07905-6] Caption from original
26 Epiglottitis
Pathophysiology andEtiology
• Epiglottitis is essentially a cellulitic process secondary to bacteremic spread.
• The onset of edema is rapid and usually does not involve subglottic
structures.
393
Severe epiglottitis. Two patients with severe epiglottitis. A, The characteristic edema
of the epiglottis and laryngeal structures and purulent material. B, Extent that
advanced edema can become, so that by the time many patients present, they are
breathing through an extremely small aperture. [Rasmussen G, Deshpande
J.Pediatric anesthesia. In: Muravchick S, editor. Subspecialty care. Philadelphia:
Current Medicine; 1998. 236 p. (Miller RD editor, Atlas of anesthesia; vol. 5).
ISBN: 0-443-07905-6] Caption from original
394
R. M. Cantor et al.
• Most cases are bacterial in origin, usually from Haemophilus inuenza type b
(Hib).
• Other causes in children include streptococci and Staphylococcus aureus
(including MRSA strains).
Presentation
Typical/“Classic”
• Look for the “3 D’s”: distress, drooling, and dysphagia.
• Unlike croup, there is generally no prodromal URI.
• Most children become ill within 24 hours, often with a toxic appearance.
• Younger children will assume a “snifng posture,” in which the chin is thrust
forward and the neck hyperextended in order to maximize airway patency.
Children Adults
Age at acquisition 3–5 yrs —
Location of
pathology
Onset Rapid
Fever High Variable
Appearance Toxic Usually not toxic
Stridor +++ Not usual
Cough Not usual —
Drooling Often —
Supraglottic Supraglottic
Most have a mild illness with prolonged course, painful dysphagia, and
pharyngitis
Clinical features of acute epiglottitis [Tristram D.Chapter 07. In: Brook I, editor.
Atlas of Upper Respiratory and Head and Neck Infections, 2e. Philadelphia: Current
Medicine; 2000. (Mandell GL, editor. Atlas of infectious diseases; vol. 4). ISBN:
1-57340-140-4]
Atypical
• Older children and adults may only complain of a sore throat, and generally
do not appear toxic