Anesthetic Consideration of Niemann-Pick Disease Type C
سال انتشار: 1395
نوع سند: مقاله ژورنالی
زبان: انگلیسی
مشاهده: 277
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شناسه ملی سند علمی:
JR_SBMU-1-2_008
تاریخ نمایه سازی: 6 اسفند 1398
چکیده مقاله:
Niemann-Pick disease type C (NPC) 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. Since pathogenesis of this disease is still unknown and 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.
کلیدواژه ها:
نویسندگان
Masoud Nashibi
Anesthesiology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Ardeshir Tajbakhsh
Anesthesiology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Farhad Safari
Anesthesiology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Kamran Mottaghi
Anesthesiology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran