Anesthetic consideration of Niemann-Pick Disease type C
Journal of Cellular & Molecular Anesthesia,
Vol. 1 No. 2 (2016),
16 March 2016
,
Page 73-77
https://doi.org/10.22037/jcma.v1i2.11454
Abstract
Nieman-Pick disease type C is a rare, autosomal recessive, neurometabolic disorder associated with the accumulation of unesterified cholesterol in lysosomes and late endosomes. Because of multiple organ involvement and wide range of clinical manifestations, these patients will demand multiple diagnostic and therapeutic procedures requiring anesthesia. Sincepathogenesis of this disease is still unknown, further investigations on cellular and molecular basis of NPC is needed. In this report we present a known case of NPC1 requiring anesthesia for Percutaneous Endoscopic Gastrostomy and a brief review about molecular basis and recent advances in this field.
- Anesthesia
- Niemann-Pick Disease
How to Cite
References
Vanier MT. Niemann-Pick disease type C. Orphanet journal of rare diseases. 2010;5:16.
Imrie J, Heptinstall L, Knight S, Strong K. Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database. BMC neurology. 2015;15(1):257.
Miao N, Lu X, O'Grady NP, Yanjanin N, Porter FD, Quezado ZM. Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures. Journal of child neurology. 2012;27(12):1541-6.
Mengel E, Klunemann HH, Lourenco CM, Hendriksz CJ, Sedel F, Walterfang M, et al. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet journal of rare diseases. 2013;8:166.
Araújo A, Orfão J, Machado H. Ambulatory Anaesthesia in a Patient with Niemann-Pick Disease Type C. J Anesth Clin Res. 2015;6(509):2.
Walterfang M, Chien Y-H, Imrie J, Rushton D, Schubiger D, Patterson MC. Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. Orphanet journal of rare diseases. 2012;7(1):76.
Ren S, Gao B. [Research advances in diagnosis and therapy of Niemann-Pick disease type C]. Zhongguo dang dai er ke za zhi= Chinese journal of contemporary pediatrics. 2015;17(5):533-8.
Pacheco CD, Lieberman AP. The pathogenesis of Niemann-Pick type C disease: a role for autophagy? Expert reviews in molecular medicine. 2008;10:e26.
- Abstract Viewed: 789 times
- PDF Downloaded: 442 times