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Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_2693_Библиотеки_им_академика_М_И_Перельмана.pdf
24 Diabetic Ketoacidosis
373
A 12-year-old boy in DKA (left) and following recovery from the DKA episode
(right). Axial FLAIR images (1.5 T) demonstrate that the intercaudate distance is
smaller during DKA than after recovery, suggesting mild diffuse brain swelling.
[Wootton-Gorges SL, Glaser NS.Imaging of the brain in children with type I diabetes mellitus. Pediatric Radiology. 2007 Jul 27;37(9):863–9.] Caption adapted from
original
374
Computerized Tomography (CT) head showing diffuse cerebral edema with
effacement of basal cisterns and generalized loss of gray-white differentiation
[From article: Dialysis Disequilibrium Syndrome: Brain death following hemodialysis for metabolic acidosis and acute renal failure–A case report. BMC Nephrology.
2004 Aug 19;5(1):9.
com/article/10.1186%2F1471-2369-5-9/fulltext.html; by Sean M Bagshaw, Adam
D Peets, Morad Hameed, Paul JE Boiteau, Kevin B Laupland, Christopher J Doig,
© Bagshaw et al; licensee BioMed Central Ltd. 2004; licensed under Creative
Commons Attribution License BY 2.0 http://creativecommons.org/licenses/by/2.0]
Caption from original
• Metabolic acidosis that does not respond to usual therapy is often due to lactic
acidosis from unrecognized infection.
• Hypotension/shock refractory to uid administration should prompt a consideration of concurrent gram-negative sepsis or myocardial infarction with cardiogenic shock.
• Venous thromboembolism (VTE) can occur as a late complication.
• Rhinocerebral mucormycosis is a rare, late, complication of DKA.It is an
infection of the sinuses, nasal passages, oral cavity, and brain caused by saprophytic, aerobic fungi. It is associated with a very high mortality.
https://doi.org/10.1186/1471-2369-5-9, at http://link.springer.
C. J. Rees et al.
Related Evidence
Papers of particular interest have been highlighted as:
** Of key importance
Practice Guideline
Wolfsdorf JI, Allgrove J, Craig ME, Edge J, Glaser N, Jain V, Lee WW, Mungai LN,
Rosenbloom AL, Sperling MA, Hanas R; International Society for Pediatric and
Adolescent Diabetes. ISPAD Clinical Practice Consensus Guidelines 2014.
Diabetic ketoacidosis and hyperglycemic hyperosmolar state. Pediatr Diabetes.
2014 Sep;15 Suppl 20:154-79. https://doi.org/10.1111/pedi.12165. Epub 2014
Jul 12. PMID:25041509. http://www.ncbi.nlm.nih.gov/pubmed/25041509 **
Canadian Diabetes Association Clinical Practice Guidelines Expert Committee,
Goguen J, Gilbert J.Hyperglycemic emergencies in adults. Can J Diabetes. 2013
Apr;37 Suppl 1:S72-6. https://doi.org/10.1016/j.jcjd.2013.01.023. Epub 2013
Mar 26. PMID:24070967. http://www.ncbi.nlm.nih.gov/pubmed/24070967 **
Savage MW, Dhatariya KK, Kilvert A, Rayman G, Rees JA, Courtney CH, Hilton L,
Dyer PH, Hamersley MS; Joint British Diabetes Societies. Joint British Diabetes
Societies guideline for the management of diabetic ketoacidosis. Diabet Med.
24 Diabetic Ketoacidosis
2011 May;28(5):508-15. https://doi.org/10.1111/j.1464-5491.2011.03246.x.
PMID:21255074. http://www.ncbi.nlm.nih.gov/pubmed/21255074 **
Wolfsdorf J, Craig ME, Daneman D, Dunger D, Edge J, Lee WR, Rosenbloom A,
Sperling MA, Hanas R; International Society for Pediatric and Adolescent
Diabetes. Diabetic ketoacidosis. Pediatr Diabetes. 2007 Feb;8(1):28-43.
PMID:17341289.
http://www.ncbi.nlm.nih.gov/pubmed/17341289 **
375
Meta-Analysis
Mukhopadhyay A, Farrell T, Fraser RB, Ola B.Continuous subcutaneous insulin
infusion vs intensive conventional insulin therapy in pregnant diabetic women: a
systematic review and metaanalysis of randomized, controlled trials. Am J Obstet
Gynecol. 2007 Nov;197(5):447-56. Epub 2007 Aug 6. Review. PMID: 17678864.
http://www.ncbi.nlm.nih.gov/pubmed/17678864
Review
Jefferies CA, Nakhla M, Derraik JG, Gunn AJ, Daneman D, Cuteld WS.Preventing
Diabetic Ketoacidosis. Pediatr Clin North Am. 2015 Aug;62(4):857-71. https://
doi.org/10.1016/j.pcl.2015.04.002. Epub 2015 May 30. Review. PubMed PMID:
26210621. http://www.ncbi.nlm.nih.gov/pubmed/26210621
Misra S, Oliver NS.Utility of ketone measurement in the prevention, diagnosis and
management of diabetic ketoacidosis. Diabet Med. 2015 Jan;32(1):14-23. https://
doi.org/10.1111/dme.12604. Epub 2014 Nov 19. Review. PMID: 25307274.
http://www.ncbi.nlm.nih.gov/pubmed/25307274
Gosmanov AR, Gosmanova EO, Dillard-Cannon E.Management of adult diabetic
ketoacidosis. Diabetes Metab Syndr Obes. 2014 Jun 30;7:255-64. https://doi.
org/10.2147/DMSO.S50516. eCollection 2014. Review. PMID: 25061324.
http://www.ncbi.nlm.nih.gov/pubmed/25061324 **
Corwell B, Knight B, Olivieri L, Willis GC. Current diagnosis and treatment of
hyperglycemic emergencies. Emerg Med Clin North Am. 2014 May;32(2):437-
52. https://doi.org/10.1016/j.emc.2014.01.004. Epub 2014 Feb 19. Review.
PMID: 24766942. http://www.ncbi.nlm.nih.gov/pubmed/24766942
Maletkovic J, Drexler A.Diabetic ketoacidosis and hyperglycemic hyperosmolar
state. Endocrinol Metab Clin North Am. 2013 Dec;42(4):677-95. https://doi.
org/10.1016/j.ecl.2013.07.001. Review. PubMed PMID: 24286946. http://www.
ncbi.nlm.nih.gov/pubmed/24286946 **
Van Ness-Otunnu R, Hack JB. Hyperglycemic crisis. J Emerg Med. 2013
Nov;45(5):797-805. https://doi.org/10.1016/j.jemermed.2013.03.040. Epub
2013 Jun 18. Review. PubMed PMID: 23786780.
pubmed/23786780
http://www.ncbi.nlm.nih.gov/
376
C. J. Rees et al.
Vincent M, Nobécourt E.Treatment of diabetic ketoacidosis with subcutaneous
insulin lispro: a review of the current evidence from clinical studies. Diabetes
Metab. 2013 Sep;39(4):299-305. https://doi.org/10.1016/j.diabet.2012.12.003.
Epub 2013 Apr 30. Review. PMID: 23642642.
http://www.ncbi.nlm.nih.gov/
pubmed/23642642
de Veciana M. Diabetes ketoacidosis in pregnancy. Semin Perinatol. 2013
Aug;37(4):267-73. https://doi.org/10.1053/j.semperi.2013.04.005. Review.
PMID:23916025. http://www.ncbi.nlm.nih.gov/pubmed/23916025
Olivieri L, Chasm R.Diabetic ketoacidosis in the pediatric emergency department.
Emerg Med Clin North Am. 2013 Aug;31(3):755-73. https://doi.org/10.1016/j.
emc.2013.05.004. Epub 2013 Jul 6. Review. PMID: 23915602. http://www.ncbi.
nlm.nih.gov/pubmed/23915602
Klocker AA, Phelan H, Twigg SM, Craig ME.Blood β-hydroxybutyrate vs. urine
acetoacetate testing for the prevention and management of ketoacidosis in Type
1 diabetes: a systematic review. Diabet Med. 2013 Jul;30(7):818-24. https://doi.
org/10.1111/dme.12136
. Review. PMID: 23330615. http://www.ncbi.nlm.nih.
gov/pubmed/23330615
Usher-Smith JA, Thompson MJ, Sharp SJ, Walter FM.Factors associated with the
presence of diabetic ketoacidosis at diagnosis of diabetes in children and young
adults: a systematic review. BMJ. 2011 Jul 7;343:d4092. https://doi.org/10.1136/
bmj.d4092. Review. PMID: 21737470. http://www.ncbi.nlm.nih.gov/
pubmed/21737470
Nyenwe EA, Kitabchi AE.Evidence-based management of hyperglycemic emer-
gencies in diabetes mellitus. Diabetes Res Clin Pract. 2011 Dec;94(3):340-51.
https://doi.org/10.1016/j.diabres.2011.09.012. Epub 2011 Oct 5. Review. PMID:
21978840. http://www.ncbi.nlm.nih.gov/pubmed/21978840
Wilson JF.In clinic. Diabetic ketoacidosis. Ann Intern Med. 2010 Jan 5;152(1):ITC1-
1, ITC1-2, ITC1-3,ITC1-4, ITC1-5, ITC1-6, ITC1-7, ITC1-8, ITC1- 9, ITC1-10,
ITC1-11, ITC1-12, ITC1-13, ITC1-14, ITC1-15, table of contents; quiz ITC1-
16.
https://doi.org/10.7326/0003-4819-152-1-201001050-01001. Review.
PMID:20048266. http://www.ncbi.nlm.nih.gov/pubmed/20048266 **
Kitabchi AE, Umpierrez GE, Miles JM, Fisher JN.Hyperglycemic crises in adult
patients with diabetes. Diabetes Care. 2009 Jul;32(7):1335-43. https://doi.
org/10.2337/dc09-9032. Review. PMID: 19564476. http://www.ncbi.nlm.nih.
gov/pubmed/19564476 **
Davis SN, Umpierrez GE.Diabetic ketoacidosis in type 2 diabetes mellitus--patho-
physiology and clinical presentation. Nat Clin Pract Endocrinol Metab. 2007
Nov;3(11):730-1. Epub 2007 Sep 11. Review. PMID:17848925. http://www.
ncbi.nlm.nih.gov/pubmed/17848925 **
Parker JA, Conway DL.Diabetic ketoacidosis in pregnancy. Obstet Gynecol Clin
North Am. 2007 Sep;34(3):533-43, xii. Review. PMID: 17921013. http://www.
ncbi.nlm.nih.gov/pubmed/17921013
Hardern RD, Quinn ND.Emergency management of diabetic ketoacidosis in adults.
Emerg Med J. 2003 May;20(3):210-3. Review. PMID: 12748130.
http://www.
ncbi.nlm.nih.gov/pubmed/12748130
24 Diabetic Ketoacidosis
377
Case Study
Pollock F, Funk DC.Acute diabetes management: adult patients with hyperglyce-
mic crises and hypoglycemia. AACN Adv Crit Care. 2013 Jul-Sep;24(3):314-24.
https://doi.org/10.1097/NCI.0b013e31829b7d38. PMID:23880754. http://www.
ncbi.nlm.nih.gov/pubmed/23880754 **
Use PubMed Clinical Queries to nd the most recent evidence. Use this search
strategy: “Diabetic ketoacidosis”[mesh] OR “Diabetic ketoacidosis”
Chapter 25
Duchenne Muscular Dystrophy
RichardM.Cantor, CharlesV.Pollack,Jr., andVictoriaG.Riese
Name andSynonyms
Duchenne Muscular Dystrophy (DMD)
• A member of a group of diseases termed dystrophinopathies (includes
Duchenne and Becker Muscular Dystrophy)
• Duchenne’s is the most severe form
Incidence/Epidemiology
• Caused by a defective gene on the X chromosome.
• An X linked recessive trait.
• A population-based surveillance study of males 5–24 years old in four states
found the overall prevalence of DMD/Becker muscular dystrophy (BMD) to
be from 1.3 to 1.8 per 10,000.
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_25
Jr. ()
379© Springer Nature Switzerland AG 2019
380
R. M. Cantor et al.
Differential Diagnosis
• The differential diagnosis of infants and children with muscle weakness is
large.
• Some helpful clinical ndings include:
• Cranial nerve decits are seen in neuromuscular junction dysfunction
(myasthenia gravis, botulism, and tick paralysis).
• Spinal cord dysfunction is heralded by loss of function below the level of
the lesion (poor rectal tone, decreased cremasteric reexes).
• Hyperesthesias are common in peripheral nerve disorders.
• The presence of ataxia and cerebellar signs favors a central anomaly.
• Hyporeexia is common in Guillain-Barré syndrome, tick paralysis, and
botulism.
Pathophysiology andEtiology
• The result of a defective gene located on the X chromosome that is responsible for the production of dystrophin.
• Dystrophin is responsible for stabilization of muscle proteins, protecting
them from degradation.
• Damage to these proteins results in muscle ber degeneration.
25 Duchenne Muscular Dystrophy
381
Duchenne muscular dystrophy. (a) On hematoxylin and eosin (H&E) staining,
considerable ber-type variation, including an occasional hypertrophic ber (arrow)
and brosis with fatty inltration (arrow heads), is noted. (b) Also on H&E staining,
lymphocytic inltrates are demonstrated (arrow). (c) Normal dystrophin staining.
(d) Loss of dystrophin staining in DMD [Russell JW, Weiss MD, Distad BJ,
Castellani RJ.Muscle and Myotonic Diseases. In: Feldman EL, Grisold W, Russell
JW, Löscher WN, editors. Atlas of Neuromuscular Diseases [Internet]. Vienna:
Springer Vienna; 2014 [cited 2016 Aug 1]. p.247–81. Available from:
http://link.
springer.com/10.1007/978-3-7091-1605-0_11] Caption from original
Presentation
Typical/“Classic”
• Neuromuscular presentation is most common.
• Obvious clinical signs of weakness occur between 2 and 3 years of age.
• Lower extremity muscles are initially affected, specically proximal limb
musculature.
Duchenne dystrophy. Duchenne dystrophy is an X‐linked progressive myopathy of
childhood caused by mutations of the dystrophin gene. A,Lateral photograph of a
boy with Duchenne dystrophy. Note the lumbar lordosis and enlarged calves
[Pleasure D, Bird S, Scherer S, Sladky J, Schotland D.Neuromuscular Disease. In:
Rosenberg RN, editor. Atlas of Clinical Neurology [Internet]. Current Medicine
Group; 2003 [cited 2016 Aug 1]. p.385–401. Available from: http://link.springer.
com/chapter/10.1007/978-1-4757-4552-8_11] Caption from original.
382
R. M. Cantor et al.
Duchenne muscular dystrophy. Note the prominent abdomen and lumbar lordosis,
calf pseudohypertrophy, and equinus at the ankles [Bleck EE, Robb JE.Hereditary
and Developmental Neuromuscular Disorders. In: Benson M, Fixsen J, Macnicol
M, Parsch K, editors. Children’s Orthopaedics and Fractures [Internet]. London:
Springer London; 2010 [cited 2016 Aug 1]. p.249–64. Available from: http://link.
springer.com/10.1007/978-1-84882-611-3_16] Caption from original
• There is impairment of running, jumping, and climbing stairs. Fractures from
falls are common,
• Look for Gower’s Sign—children will have to actively push up with their
hands to attain a standing position.
25 Duchenne Muscular Dystrophy
383
Duchenne's dystrophy, Gower maneuver [MacGregor DL.Neurology. In: Laxer R,
Ford-Jones EL, Friedman J, Gerstle T, editors. The Hospital for Sick Children: atlas
of pediatrics. Philadelphia: Current Medicine; 2005. Atlas of Pediatrics, Volume IA,
Chapter 05;. ISBN: 1-57340-188-9] Caption from original
• Most patients are wheelchair-bound by early adolescence.
Atypical
• There may also be variable degrees of global developmental decits.
• Cardiac presentations are less common than neuromuscular presentations.
• DMD causes a dilated cardiomyopathy.
Thrombus (arrow) in the left ventricular apex of a patient with Duchenne muscular
dystrophy and dilated cardiomyopathy. Mid-esophageal four-chamber view, multiplane angle 0°. LA left atrium, LV left ventricle, RA right atrium, RV right ventricle
[Wong PC. Additional Applications of Transesophageal Echocardiography. In:
Wong PC, Miller-Hance WC, editors. Transesophageal Echocardiography for
Congenital Heart Disease [Internet]. London: Springer London; 2014 [cited 2016
Aug 1]. p.399–436. Available from:
http://link.springer.com/10.1007/978-1-84800-
064-3_16] Caption from original
• Conduction abnormalities may be present (resulting in mostly supraventricular disorders).
• The progression of cardiac disease is gradual, with full expression after
18 years of age.
• Most children, by virtue of their lack of strenuous activity, are
asymptomatic.
• Most children with DMD develop scoliosis.