Anesthesia Management in a Patient Diagnosed with Mocupolysaccharidosis Type 1: A Case Report

Yıl 2021, Cilt: 13 Sayı: 3, 193 - 200, 26.12.2021

Ali Genç

Öz

Mucopolysaccharidoses (MPS) are inherited lysosomal storage diseases caused by the accumulation of glycosaminoglycans (GAG). Enzyme deficiencies involved in GAG degradation are seen in MPS. If GAGs are not broken down, they accumulate in the cell, eventually leading to cell, tissue and organ damage. In addition, the accumulation of GAG in the airway may create various difficulties for airway management of these patients. In this case report, we presented our anesthesia management of the 10 year old patient who had umbilical hernia and circumcision operation.

Anahtar Kelimeler

Anesthesia, intubation, mucopolysaccharidoses.

Mokupolisakkaridoz Tip1 Tanılı Hastada Anestezi Yönetimi: Olgu Sunumu

Öz

Mukopolisakkaridozlar (MPS), glikoz amino glikanların (GAG) birikmesinden kaynaklanan kalıtsal lizozomal depo hastalıklarıdır. MPS’de GAG yıkımında görev alan enzimlerde eksiklik görülür. GAG'lar parçalanamazsa, hücrede birikerek sonunda hücre, doku ve organ hasarına yol açar. Ayrıca bu hastalarda havayolunda GAG birikimi havayolu yönetimi için çeşitli zorluklar oluşturabilir. Biz bu olgu sunumunda 10 yaşında umblikal herni ve sünnet operasyonu olan hastada anestezi yönetimimizi sunduk.

Anahtar Kelimeler

Anestezi, entübasyon, mukopolisakkaridozlar.

Kaynakça

• 1. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 2011; 50(5): 4-12.
• 2. Baines D. Suxamethonium in mucopolysaccharidosis. Anaesth Intensive Care. 1989; 17(3): 382.
• 3. Kempthorne PM, Brown TC. Anaesthesia and the mucopolysaccharidoses: A survey of techniques and problems. Anaesth Intensive Care. 1983; 11(3): 203-207.
• 4. King DH, Jones RM, Barnett MB. Anaesthetic considerations in the mucopolysaccharidoses. Anaesthesia. 1984; 39(2): 126-131.
• 5. Walker R, Belani KG, Braunlin EA, Bruce IA, Hack H, Harmatz PR, et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. 2013; 36(2): 211-219.
• 6. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Lizozomal depo bozukluklarının prevalansı. JAMA. 1999; 281: 249-254.
• 7. Hendriksz CJ, Berger KI, Giugliani R, Harmatz P, Kampmann C, Mackenzie WG, et al. International guidelines for the management and treatment of Morquio a syndrome. Am J Med Genet A. 2015; 167(1): 11-25.
• 8. Mitchell J, Berger KI, Borgo A, Braunlin EA, Burton BK, Ghotme KA, et al. Unique medical issues in adult patients with mucopolysaccharidoses. Eur J Intern Med. 2016; 34: 2-10.
• 9. Solanki GA, Sun PP, Martin KW, Hendriksz CJ, Lampe C, Guffon N, et al. Cervical cord compression in mucopolysaccharidosis VI (MPS VI): findings from the MPS VI clinical surveillance program (CSP) Mol Genet Metab. 2016; 118(4): 310-318.
• 10. Lampe C, Bosserhoff AK, Burton BK, Giugliani R, de Souza CF, Bittar C, et al. Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series. J Inherit Metab Dis. 2014; 37(5): 823-829.
• 11. Beck M, Arn P, Giugliani R, Muenzer J, Okuyama T, Taylor J, et al. The natural history of MPS I: global perspectives from the MPS I registry. Genet Med. 2014; 16(10): 759-765.
• 12. Giugliani R, Lampe C, Guffon N, Ketteridge D, Leao-Teles E, Wraith JE, et al. Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI Survey Study. Am J Med Genet A. 2014; 164(8): 1953-1964.
• 13. Quartel A, Harmatz PR, Lampe C, Guffon N, Ketteridge D, Leao-Teles E, et al. Long-term galsulfase treatment associated with improved survival of patients with mucopolysaccharidosis VI (Maroteaux–Lamy syndrome): 15-year follow-up from the Survey Study. J Inborn Errors Metab Screen. 2018; 6: 1-6.
• 14. Harmatz P, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, et al. The Morquio a clinical assessment program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab. 2013; 109(1): 54-61.
• 15. Arn P, Wraith JE, Underhill L. Characterization of surgical procedures in patients with mucopolysaccharidosis Type I: Findings from the MPS I Registry. J Pediatr. 2009; 154(6): 859-864.
• 16. Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, et al. Importance of surgical history in diagnosing mucopolysaccharidosis Type II (Hunter syndrome): Data from the hunter outcome survey. Genet Med. 2010; 12(12): 816-822.
• 17. Clark BM, Sprung J, Weingarten TN, Warner ME. Anesthesia for patients with mucopolysaccharidoses: comprehensive review of the literature with emphasis on airway management. Bosn J Basic Med Sci. 2018; 18: 1-7.
• 18. Alden TD, Amartino H, Dalla Corte A, Lampe C, Harmatz PR, Vedolin L. Surgical management of neurological manifestations of mucopolysaccharidosis disorders. Mol Genet Metab. 2017; 122: 41-48.
• 19. Soliman OI, Timmermans RG, Nemes A, Vletter WB, Wilson JH, ten Cate FJ, et al. Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I. J Inherit Metab Dis. 2007; 30(5): 750-757.
• 20. Kirkpatrick K, Ellwood J, Walker RW. Mucopolysaccharidosis type I (Hurler syndrome) and anesthesia: the impact of bone marrow transplantation, enzyme replacement therapy, and fiberoptic intubation on airway management. Pediatr Anesth. 2012; 22: 745-751.
• 21. Frawley G, Fuenzalida D, Donath S, Yaplito-Lee J, Peters H. A retrospective audit of anesthetic techniques and complications in children with mucopolysaccharidoses. Paediatr Anaesth. 2012; 22(8): 737-744.
• 22. Van Zundert A, Pieters B, van Zundert T, Gatt S. Avoiding palatopharyngeal trauma during videolaryngoscopy: do not forget the ‘blind spots’. Acta Anaesthesiologica Scandinavica. 2012; 56: 532-534.
• 23. Shimada M, Hirabayashi Y, Seo N. Nasotracheal intubation using Glidescope® videolaryngoscope or Macintosh laryngoscope by novice laryngoscopists. Masui. 2010; 59: 1318-1320.
• 24. Kim EH, Lee JH, Song IK, Kim JT, Kim BR, Kim HS. Effect of head position on laryngeal visualisation with the McGrath MAC® videolaryngoscope in paediatric patients. Eur J Anaesthesiol. 2016; 33: 528-534.
• 25. Nishikawa K, Matsuoka H, Saito S. Tracheal intubation with the Pentax-AWS reduces changes of hemodynamic responses and bispectral index scores compared with the Macintosh laryngoscope. J. Neurosurg. Anesth 2009; 21: 292-296.
• 26. Jong AD, Pardo E, Rolle A, Bodin-Lario S, Pouzeratte Y, Jaber S. Airway management for COVID-19: a move towards universal videolaryngoscope? Lancet Respir Med 2020; 8: 555.
• 27. Frohlich S, Borovickova L, Foley E, O’sullivan E. A comparison of tracheal intubation using the McGrath MAC® or the Macintosh laryngoscopes in routine airway management. European Journal of Anaesthesiology 2011; 28: 465‐467.