دورية أكاديمية
Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel
| العنوان: | Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel |
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| المؤلفون: | Sun Woo Park, Ji Hong Park, Hye Jeong Moon, Minsoo Shin, Jin Soo Moon, Jae Sung Ko |
| المصدر: | The Korean Journal of Gastroenterology, Vol 78, Iss 4, Pp 240-244 (2021) |
| بيانات النشر: | Jin Publishing & Printing Co., 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Medicine |
| مصطلحات موضوعية: | lysosomal storage diseases, npc1, infant, newborn, cholestasis, Medicine |
| الوصف: | Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder caused by mutations in the NPC1 and NPC2 genes. These mutations cause the accumulation of unesterified cholesterol and other lipids in the lysosomes. NPC has a broad spectrum of clinical manifestations, depending on the age of onset. A 15-day-old infant presented at the Seoul National University Children's Hospital with neonatal cholestasis and hepatosplenomegaly, with the onset of jaundice at 5 days of age. Despite supportive treatment, the patient was considered for a liver transplant because of progressive liver failure. Unfortunately, the patient died from gastrointestinal bleeding before undergoing the transplant. The neonatal cholestasis gene panel revealed two novel likely pathogenic variants in the NPC1 gene (c.1145C>G [p.Ser382*] and c.2231_2233del [p.Val744del]). The patient was diagnosed with NPC, and both parents were found to be carriers of each variant. In infants presenting with neonatal cholestasis, a gene panel can help diagnose NPC. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English Korean |
| تدمد: | 1598-9992 2233-6869 |
| العلاقة: | https://www.kjg.or.kr/journal/view.html?uid=5758&vmd=FullTest; https://doaj.org/toc/1598-9992Test; https://doaj.org/toc/2233-6869Test |
| DOI: | 10.4166/kjg.2021.079 |
| الوصول الحر: | https://doaj.org/article/0982d09e49044021a442bcc8bea819d7Test |
| رقم الانضمام: | edsdoj.0982d09e49044021a442bcc8bea819d7 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 15989992 22336869 |
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| DOI: | 10.4166/kjg.2021.079 |