LPL基因变异导致的婴儿家族性高乳糜微粒血症合并肾脏错构瘤1例报告

陈欣涛; 方微园; 龚晓妍; 林琼; 陆怡

doi:10.3969/j.issn.1001-5256.2023.04.022

LPL基因变异导致的婴儿家族性高乳糜微粒血症合并肾脏错构瘤1例报告

DOI: 10.3969/j.issn.1001-5256.2023.04.022

陈欣涛^{1a, 2},
方微园^1a,
龚晓妍^1b,
林琼²,
陆怡^1a, , ,

1a.
复旦大学附属儿科医院儿童肝病中心, 上海 201102
1b.
复旦大学附属儿科医院临床营养科, 上海 201102
2.
无锡市儿童医院消化科, 江苏无锡 214023

基金项目:

国家重点研发计划 (2021YFC 2700800)

伦理学声明: 本例报告通过复旦大学附属儿科医院伦理委员会批准, 批号: 复儿伦审(2020)402号，已获得患者家属知情同意。

利益冲突声明: 所有作者均声明不存在利益冲突。

作者贡献声明: 陈欣涛、方微园负责文章的构思与设计，数据收集整理，资料分析，撰写论文, 贡献相当, 排名不分先后; 龚晓妍参与数据分析和解释; 林琼、陆怡负责拟定写作思路, 指导撰写文章, 质量控制及审校。

详细信息

通信作者:
陆怡, luyi@fudan.edu.cn (ORCID: 0000-0002-3311-4501)

计量
- 文章访问数: 332
- HTML全文浏览量: 69
- PDF下载量: 26
- 被引次数: 0
出版历程
- 收稿日期: 2022-07-30
- 录用日期: 2022-09-13
- 出版日期: 2023-04-20

Infantile familial chylomicronemia syndrome caused by LPL gene variants coexisting with renal hamartoma:A case report

Xintao CHEN^{1a, 2},
Weiyuan FANG^1a,
Xiaoyan GONG^1b,
Qiong LIN²,
Yi LU^{1a
, ,
,}

1a.
The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China
1b.
Department of Clinical Nutrition, Children's Hospital of Fudan University, Shanghai 201102, China
2.
Department of Gastroenterology, Wuxi Children's Hospital, Wuxi, Jiangsu 214023, China

Research funding:

National Key Research and Development Program of China (2021YFC 2700800)

More Information

Corresponding author: LU Yi, luyi@fudan.edu.cn (ORCID: 0000-0002-3311-4501)

摘要

- 脂蛋白脂酶缺乏症Ⅰ型 /
- 高甘油三酯血症 /
- 肾脏错构瘤
- Hyperlipoproteinemia Type I /
- Hypertriglyceridemia /
- Renal Hamartoma

HTML全文

图 1 LPL基因Sanger测序结果

注：a, 患儿; b, 患儿母亲；c, 患儿父亲。

Figure 1. Sanger sequencing result of LPL gene

下载: 全尺寸图片幻灯片

图 2 患儿LPL基因大片段杂合缺失变异实时荧光定量PCR检测

注：横坐标分别为正常对照、患儿、父亲、母亲；Exon6、Exon8、Exon9分别表示LPL基因6号外显子、8号外显子、9号外显子；纵坐标表示定量PCR中各外显子在正常对照、患儿、父亲和母亲中含量的比值。

Figure 2. Heterozygous large deletion variant of LPL gene detected by real-time quantitative PCR

下载: 全尺寸图片幻灯片

参考文献(25)

[1]	YANG L, DONG XR, PENG XM, et al. Evaluation of turn around time and diagnostic accuracy of the next generation sequencing data analysis pipeline version 2 of Children's Hospital of Fudan University[J]. Chin J Evid Based Pediatr, 2018, 13(2): 118-123. DOI: 10.3969/j.issn.1673-5501.2018.02.008. 杨琳, 董欣然, 彭小敏, 等. 复旦大学附属儿科医院高通量测序数据分析流程(第二版)对遗传疾病候选变异基因筛选用时和准确性分析[J]. 中国循证儿科杂志, 2018, 13(2): 118-123. DOI: 10.3969/j.issn.1673-5501.2018.02.008
[2]	QIN Q, LIU B, YANG L, et al. Application of copy number variation screening analysis process based on high-throughput sequencing technology[J]. Chin J Evid Based Pediatr, 2018, 13(4): 275-279. DOI: 10.3969/j.issn.1673-5501.2018.04.007. 秦谦, 刘博, 杨琳, 等. 基于高通量测序技术的拷贝数变异筛选分析流程的建立及应用[J]. 中国循证儿科杂志, 2018, 13(4): 275-279. DOI: 10.3969/j.issn.1673-5501.2018.04.007.
[3]	KERSTEN S. Physiological regulation of lipoprotein lipase[J]. Biochim Biophys Acta, 2014, 1841(7): 919-933. DOI: 10.1016/j.bbalip.2014.03.013.
[4]	OLIVECRONA G. Role of lipoprotein lipase in lipid metabolism[J]. Curr Opin Lipidol, 2016, 27(3): 233-241. DOI: 10.1097/MOL.0000000000000297.
[5]	BRAHM A, HEGELE RA. Hypertriglyceridemia[J]. Nutrients, 2013, 5(3): 981-1001. DOI: 10.3390/nu5030981.
[6]	DRON JS, HEGELE RA. Genetics of hypertriglyceridemia[J]. Front Endocrinol (Lausanne), 2020, 11: 455. DOI: 10.3389/fendo.2020.00455.
[7]	FALKO JM. Familial chylomicronemia syndrome: A clinical guide for endocrinologists[J]. Endocr Pract, 2018, 24(8): 756-763. DOI: 10.4158/EP-2018-0157.
[8]	TAKAGI A, IKEDA Y. Genetic diagnosis on hypertriglyceridemia-analysis for LPL gene mutations[J]. Nihon Rinsho, 2013, 71(9): 1569-1576.
[9]	GARG A, GARG V, HEGELE RA, et al. Practical definitions of severe versus familial hypercholesterolaemia and hypertriglyceridaemia for adult clinical practice[J]. Lancet Diabetes Endocrinol, 2019, 7(11): 880-886. DOI: 10.1016/S2213-8587(19)30156-1.
[10]	LIU LX, WU YT. Clinical advances in hypertriglyceridemia[J]. Chin J Evidence-Bases Cardiovascular Med, 2020, 12(4): 504-508. DOI: 10.3969/j.issn.1674-4055.2020.04.34. 刘立新, 武云涛. 高甘油三酯血症临床新进展[J]. 中国循证心血管医学杂志, 2020, 12(4): 504-508. DOI: 10.3969/j.issn.1674-4055.2020.04.34.
[11]	CHYZHYK V, BROWN AS. Familial chylomicronemia syndrome: A rare but devastating autosomal recessive disorder characterized by refractory hypertriglyceridemia and recurrent pancreatitis[J]. Trends Cardiovasc Med, 2020, 30(2): 80-85. DOI: 10.1016/j.tcm.2019.03.001.
[12]	GALLO A, BÉLIARD S, D'ERASMO L, et al. Familial chylomicronemia syndrome (FCS): recent data on diagnosis and treatment[J]. Curr Atheroscler Rep, 2020, 22(11): 63. DOI: 10.1007/s11883-020-00885-1.
[13]	MOULIN P, DUFOUR R, AVERNA M, et al. Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score"[J]. Atherosclerosis, 2018, 275: 265-272. DOI: 10.1016/j.atherosclerosis.2018.06.814.
[14]	VALAIYAPATHI B, SUNIL B, ASHRAF AP. Approach to hypertriglyceridemia in the pediatric population[J]. Pediatr Rev, 2017, 38(9): 424-434. DOI: 10.1542/pir.2016-0138.
[15]	CALIÒ A, BRUNELLI M, SEGALA D, et al. Angiomyolipoma of the kidney: from simple hamartoma to complex tumour[J]. Pathology, 2021, 53(1): 129-140. DOI: 10.1016/j.pathol.2020.08.008.
[16]	CHENG L, GU J, EBLE JN, et al. Molecular genetic evidence for different clonal origin of components of human renal angiomyolipomas[J]. Am J Surg Pathol, 2001, 25(10): 1231-1236. DOI: 10.1097/00000478-200110000-00002.
[17]	PFIRMANN P, COMBE C, RIGOTHIER C. Tuberous sclerosis complex: A review[J]. Rev Med Interne, 2021, 42(10): 714-721. DOI: 10.1016/j.revmed.2021.03.003.
[18]	CURATOLO P, BOMBARDIERI R, JOZWIAK S. Tuberous sclerosis[J]. Lancet, 2008, 372(9639): 657-668. DOI: 10.1016/S0140-6736(08)61279-9.
[19]	GILBERT B, ROUIS M, GRIGLIO S, et al. Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75% are clustered in exons 5 and 6[J]. Ann Genet, 2001, 44(1): 25-32. DOI: 10.1016/s0003-3995(01)01037-1.
[20]	OKAZAKI H, GOTODA T, OGURA M, et al. Current diagnosis and management of primary chylomicronemia[J]. J Atheroscler Thromb, 2021, 28(9): 883-904. DOI: 10.5551/jat.RV17054.
[21]	STEINHAGEN-THIESSEN E, STROES E, SORAN H, et al. The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency[J]. Atherosclerosis, 2017, 262: 146-153. DOI: 10.1016/j.atherosclerosis.2016.08.023.
[22]	WITZTUM JL, GAUDET D, FREEDMAN SD, et al. Volanesorsen and triglyceride levels in familial chylomicronemia syndrome[J]. N Engl J Med, 2019, 381(6): 531-542. DOI: 10.1056/NEJMoa1715944.
[23]	ELKINS C, FRUH S, JONES L, et al. Clinical practice recommendations for pediatric dyslipidemia[J]. J Pediatr Health Care, 2019, 33(4): 494-504. DOI: 10.1016/j.pedhc.2019.02.009.
[24]	CHAUDHRY R, VILJOEN A, WIERZBICKI AS. Pharmacological treatment options for severe hypertriglyceridemia and familial chylomicronemia syndrome[J]. Expert Rev Clin Pharmacol, 2018, 11(6): 589-598. DOI: 10.1080/17512433.2018.1480368.
[25]	MEYERS CD, TREMBLAY K, AMER A, et al. Effect of the DGAT1 inhibitor pradigastat on triglyceride and apoB48 levels in patients with familial chylomicronemia syndrome[J]. Lipids Health Dis, 2015, 14: 8. DOI: 10.1186/s12944-015-0006-5.