[A case of neonatal-onset type I hyperlipoproteinemia with bloody ascites].
新生儿期起病伴血性腹水的Ⅰ型高脂蛋白血症1例.
Familial hyperlipoproteinemia
LPL gene
Lipoprotein lipase deficiency
Neonate
Journal
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
ISSN: 1008-8830
Titre abrégé: Zhongguo Dang Dai Er Ke Za Zhi
Pays: China
ID NLM: 100909956
Informations de publication
Date de publication:
15 Dec 2023
15 Dec 2023
Historique:
medline:
19
12
2023
pubmed:
19
12
2023
entrez:
19
12
2023
Statut:
ppublish
Résumé
This report presents a case of a male infant, aged 32 days, who was admitted to the hospital due to 2 days of bloody stools and 1 day of fever. Upon admission, venous blood samples were collected, which appeared pink. Blood biochemistry tests revealed elevated levels of triglycerides and total cholesterol. The familial whole genome sequencing revealed a compound heterozygous variation in the 患儿，男，生后32 d，因便血2 d，发热1 d入院。入院后抽动静脉血进行检查，血液标本均呈粉色。血生化检查显示甘油三酯、总胆固醇水平升高。家系全基因组测序显示患儿为
Autres résumés
Type: Publisher
(chi)
患儿，男，生后32 d，因便血2 d，发热1 d入院。入院后抽动静脉血进行检查，血液标本均呈粉色。血生化检查显示甘油三酯、总胆固醇水平升高。家系全基因组测序显示患儿为
Identifiants
pubmed: 38112150
pii: 1008-8830(2023)12-1293-06
doi: 10.7499/j.issn.1008-8830.2307113
pii:
doi:
Types de publication
English Abstract
Journal Article
Langues
chi
Sous-ensembles de citation
IM
Pagination
1293-1298Références
Hegele RA, Ginsberg HN, Chapman MJ, et al. The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management[J]. Lancet Diabetes Endocrinol, 2014, 2(8): 655- 666.
doi: 10.1016/S2213-8587(13)70191-8
pmcid: PMC4201123
pubmed: 24731657
Pedersen SB, Langsted A, Nordestgaard BG. Nonfasting mild-to-moderate hypertriglyceridemia and risk of acute pancreatitis[J]. JAMA Intern Med, 2016, 176(12): 1834- 1842.
doi: 10.1001/jamainternmed.2016.6875
pubmed: 27820614
Yang AL, McNabb-Baltar J. Hypertriglyceridemia and acute pancreatitis[J]. Pancreatology, 2020, 20(5): 795- 800.
doi: 10.1016/j.pan.2020.06.005
pubmed: 32571534
Fredrickson DS, Levy RI, Lees RS. Fat transport in lipoproteins:an integrated approach to mechanisms and disorders[J]. N Engl J Med, 1967, 276(5): 273- 281.
doi: 10.1056/NEJM196702022760507
pubmed: 5334042
Fredrickson DS. An international classification of hyperlipidemias and hyperlipoproteinemias[J]. Ann Intern Med, 1971, 75(3): 471- 472.
doi: 10.7326/0003-4819-75-3-471
pubmed: 5568160
Rodriguez FH, Estrada JM, Quintero HMA, et al. Analyses of familial chylomicronemia syndrome in Pereira, Colombia 2010-2020: a cross-sectional study[J]. Lipids Health Dis, 2023, 22(1): 43.
doi: 10.1186/s12944-022-01768-x
pmcid: PMC10045250
pubmed: 36978188
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
pubmed: 31390500
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
pubmed: 29980054
Zhang Y, Zhou J, Zheng W, et al. Clinical, biochemical and molecular analysis of two infants with familial chylomicronemia syndrome[J]. Lipids Health Dis, 2016, 15: 88.
doi: 10.1186/s12944-016-0254-z
pmcid: PMC4859971
pubmed: 27153815
De Pretis N, De Marchi G, Frulloni L. Hypertriglyceridemic pancreatitis[J]. Minerva Gastroenterol Dietol, 2020, 66(3): 238- 245.
doi: 10.23736/S1121-421X.19.02641-2
pubmed: 32724030
Betteridge DJ, Bakowski M, Taylor KG, et al. Treatment of severe diabetic hypertriglyceridaemia by plasma exchange[J]. Lancet, 1978, 1(8078): 1368.
doi: 10.1016/s0140-6736(78)92450-9
pubmed: 78139
Stefanutti C, D'Alessandri G, Russi G, et al. Treatment of symptomatic HyperLp(a)lipoproteinemia with LDL-apheresis: a multicentre study[J]. Atheroscler Suppl, 2009, 10(5): 89- 94.
doi: 10.1016/S1567-5688(09)71819-7
pubmed: 20129383
Capitena CE, Wagoner HJ, Ruzas CM, et al. Rapid resolution of infantile lipemia retinalis following exchange transfusion[J]. J Inherit Metab Dis, 2016, 39(6): 889- 890.
doi: 10.1007/s10545-016-9968-3
pubmed: 27518769
Poon SWY, Leung KKY, Tung JYL. Management of severe hypertriglyceridemia due to lipoprotein lipase deficiency in children[J]. Endocrinol Diabetes Metab Case Rep, 2019, 2019(1): 1- 5.
doi: 10.1530/EDM-19-0052
pmcid: PMC6685095
pubmed: 31352695
El-Koofy NM, Abdo YA, El-Fayoumi D, et al. Management strategy and novel ophthalmological findings in neonatal severe hypertriglyceridemia: a case report and literature review[J]. Lipids Health Dis, 2021, 20(1): 38.
doi: 10.1186/s12944-021-01464-2
pmcid: PMC8058978
pubmed: 33879184
Williams L, Wilson DP. Editorial commentary: dietary management of familial chylomicronemia syndrome[J]. J Clin Lipidol, 2016, 10(3): 462- 465.
doi: 10.1016/j.jacl.2015.12.023
pubmed: 27206931
Ueda M. Familial chylomicronemia syndrome: importance of diagnostic vigilance[J]. Transl Pediatr, 2022, 11(10): 1588- 1594.
doi: 10.21037/tp-22-488
pmcid: PMC9636463
pubmed: 36345451
Gotoda T, Shirai K, Ohta T, et al. Diagnosis and management of type I and type V hyperlipoproteinemia[J]. J Atheroscler Thromb, 2012, 19(1): 1- 12.
doi: 10.5551/jat.10702
pubmed: 22129523
Fallat RW, Vester JW, Glueck CJ. Suppression of amylase activity by hypertriglyceridemia[J]. JAMA, 1973, 225(11): 1331- 1334.
pubmed: 4740657
Feoli-Fonseca JC, Lévy E, Godard M, et al. Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study[J]. J Pediatr, 1998, 133(3): 417- 423.
doi: 10.1016/s0022-3476(98)70280-x
pubmed: 9738727
Williams L, Rhodes KS, Karmally W, et al. Familial chylomicronemia syndrome: bringing to life dietary recommendations throughout the life span[J]. J Clin Lipidol, 2018, 12(4): 908- 919.
doi: 10.1016/j.jacl.2018.04.010
pubmed: 29804909
Kuthiroly S, Yesodharan D, Radhakrishnan N, et al. Lipoprotein lipase deficiency[J]. Indian J Pediatr, 2021, 88(2): 147- 153.
doi: 10.1007/s12098-020-03305-z
pubmed: 32472350