Clinical and molecular spectrum of genetic hypertriglyceridaemia in North Indian children: a case series.

Q3 Medicine
Sayan Banerjee, Arun George, Pamali Mahaswata Nanda, Anju Bala, Inusha Panigrahi, Chennakeshava Thunga, Sadhna Lal, Savita Verma Attri, Jayakanthan Kabeerdoss, Devi Dayal
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引用次数: 0

Abstract

Introduction: To characterise severe hypertriglyceridaemia (HTG) in Indian children, focusing on clinical and genetic profiles.

Material and methods: A retrospective analysis from January 2017 to December 2023 included children up to 14 years old with triglyceride (TG) levels > 500 mg/dl, excluding children with known secondary causes.

Results: Among 18 children with severe HTG, 7 had secondary causes. Data from 11 patients (7 boys, median age at diagnosis 0.9 [0.45-2.4] years) revealed presenting features such as lipemic serum (63.3%), failure to thrive (36.3%), loss of subcutaneous fat (18.2%), and abdominal distension (18.2%). Genetic aetiology was identified in 10 cases, with familial chylomicronaemia syndrome (FCS) being the most prevalent (6 cases) caused by the lipoprotein lipase (LPL) and apolipoprotein A-V (APOA5) gene mutations. One each had mutations in the 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2), lamin A/C (LMNA), glucose-6-phosphatase catalytic subunit (G6PC), and glycerol kinase (GK) genes. FCS patients presented earlier and were resistant to treatment targets, requiring drug therapy. At the final follow-up (mean duration 1.75 ±1.0 years) of 9 patients, the median TG levels for the FCS and non-FCS groups were 1240 (610-1,685) and 412 (247.5-993) mg/dl, respectively. Only 2 patients (40%) with FCS had TG levels < 1000 mg/dl, while all but one (75%) non-FCS subjects had TG levels < 500 mg/dl at the last follow-up. One child developed acute pancreatitis during the said duration.

Conclusions: Paediatric HTG is often detected incidentally. Genetic characterisation is crucial for prognosis because baseline TG levels are non-predictive. Drug therapy helps to reach treatment targets in most of the patients.

北印度儿童遗传性高甘油三酯血症的临床和分子谱:一个病例系列。
简介:描述印度儿童严重高甘油三酯血症(HTG)的特点,重点关注临床和遗传概况。材料和方法:2017年1月至2023年12月的回顾性分析包括甘油三酯(TG)水平为bbb500mg /dl的14岁以下儿童,不包括已知继发原因的儿童。结果:18例重度HTG患儿中,7例有继发原因。来自11例患者(7名男孩,诊断时中位年龄0.9[0.45-2.4]岁)的数据显示,其表现为血清脂血症(63.3%)、发育不全(36.3%)、皮下脂肪减少(18.2%)和腹胀(18.2%)。遗传病因10例,以家族性乳糜微粒血症综合征(FCS)最为常见(6例),由脂蛋白脂酶(LPL)和载脂蛋白A-V (APOA5)基因突变引起。其中1-酰基甘油-3-磷酸o -酰基转移酶2 (AGPAT2)、纤层蛋白A/C (LMNA)、葡萄糖-6-磷酸酶催化亚基(G6PC)和甘油激酶(GK)基因各有突变。FCS患者出现较早且对治疗靶点耐药,需要药物治疗。在9例患者的最终随访(平均持续时间1.75±1.0年)中,FCS组和非FCS组的中位TG水平分别为1240(610- 1685)和412 (247.5-993)mg/dl。结论:儿童HTG经常是偶然发现的。遗传特征对预后至关重要,因为基线TG水平是不可预测的。药物治疗有助于大多数患者达到治疗目标。
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来源期刊
Pediatric Endocrinology, Diabetes and Metabolism
Pediatric Endocrinology, Diabetes and Metabolism Medicine-Pediatrics, Perinatology and Child Health
CiteScore
2.00
自引率
0.00%
发文量
36
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