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病例报告:家族性高胆固醇血症伴儿童生长激素缺乏的临床和遗传学分析。

Case Report: A Clinical and Genetic Analysis of Childhood Growth Hormone Deficiency With Familial Hypercholesterolemia.

机构信息

Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

出版信息

Front Endocrinol (Lausanne). 2021 Jun 18;12:691490. doi: 10.3389/fendo.2021.691490. eCollection 2021.

Abstract

BACKGROUND

Growth hormone deficiency (GHD) is a developmental disorder in children characterized by low growth hormone (GH), short stature and unfavorable lipid profiles. Familial hypercholesteremia (FH) is an inborn disorder of low-density lipoprotein cholesterol (LDL-C) metabolism which results in premature cardiovascular events. The co-occurrence of GHD and FH, which may aggravate the hypercholesteremic condition in the affected individuals, had rarely been discussed in previous publication.

METHODS

This work reports two cases of GHD with FH, and explores the lipid profiles of GHD children and their therapeutic response to recombinant human growth hormone (rhGH). The diagnosis of GHD is based on low peak GH level (<7 ng/mL) in GH provocation test. FH is diagnosed by high LDL-C level (≥ 4 mmol/L) and confirmed genetic mutations in the LDL-C metabolic pathway. We also searched all previously published metabolic studies on GHD children as of December 31, 2020. Information on their LDL-C, duration and dose of rhGH treatment were retrieved and summarized.

RESULTS

The first case was a 5.3 year-old boy. His height was 103.6 cm (SDS = -2.29) and his peak GH in provocative test was 6.37 ng/mL. Additionally, his LDL-C was 4.80 mmol/L and he harbored a heterozygous mutation for the gene (c.10579 C > T). The second case was a 9-year-old girl at the height of 117.3 cm (SDS = -2.91). Her GH peaked at 4.99 ng/mL in insulin-induced hypoglycemic test and 2.80 ng/mL in L-dopa test. Her LDL-C was 6.16 mmol/L, and she carried a mutated copy of the gene (c.809 G > A). Literature review indicated that GHD children suffered from higher baseline LDL-C, but it was significantly reduced after rhGH treatment.

CONCLUSIONS

FH should be considered if a GHD child has remarkably elevated LDL-C that cannot be attributed to low GH level alone. Genetic mutations in the LDL-C metabolic pathway prevent the body from effectively metabolizing lipids, thereby resulting in early-onset hypercholesteremia and probably playing a negative role in children's growth.

摘要

背景

生长激素缺乏症(GHD)是一种儿童发育障碍,其特征是生长激素(GH)水平低、身材矮小和血脂谱不良。家族性高胆固醇血症(FH)是一种低密度脂蛋白胆固醇(LDL-C)代谢的先天性疾病,可导致早发性心血管事件。GHD 和 FH 的同时发生可能会加重受影响个体的高胆固醇血症,这在以前的出版物中很少被讨论。

方法

本研究报告了两例 GHD 合并 FH 的病例,并探讨了 GHD 儿童的血脂谱及其对重组人生长激素(rhGH)的治疗反应。GHD 的诊断基于 GH 激发试验中峰值 GH 水平<7 ng/mL。FH 通过高 LDL-C 水平(≥4 mmol/L)和 LDL-C 代谢途径的遗传突变来诊断。我们还搜索了截至 2020 年 12 月 31 日所有已发表的关于 GHD 儿童的代谢研究。检索并总结了他们的 LDL-C、rhGH 治疗的持续时间和剂量信息。

结果

第一个病例是一名 5.3 岁的男孩,身高 103.6 cm(SDS=-2.29),GH 激发试验中的峰值为 6.37 ng/mL。此外,他的 LDL-C 为 4.80 mmol/L,携带 基因(c.10579 C > T)的杂合突变。第二个病例是一名 9 岁女孩,身高 117.3 cm(SDS=-2.91)。她在胰岛素诱导的低血糖试验中 GH 峰值为 4.99 ng/mL,在 L-多巴试验中 GH 峰值为 2.80 ng/mL。她的 LDL-C 为 6.16 mmol/L,携带 基因(c.809 G > A)的突变拷贝。文献回顾表明,GHD 儿童的基线 LDL-C 较高,但 rhGH 治疗后显著降低。

结论

如果 GHD 儿童的 LDL-C 显著升高,且不能仅归因于 GH 水平低,则应考虑 FH。LDL-C 代谢途径中的遗传突变阻止身体有效代谢脂质,从而导致早发性高胆固醇血症,并可能对儿童的生长产生负面影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/474e/8249922/646ee7fef666/fendo-12-691490-g001.jpg

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