[Donohue综合征与持续皮下IGF1泵治疗的应用]。

Q4 Medicine
M A Melikyan, T E Ivannikova, N V Milovanova, A A Kolodkina, O B Bezlepkina, N G Mokryshevа
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引用次数: 0

摘要

Donohue综合征(DS),也被称为小精灵症,是与INSR基因双等位基因突变相关的最严重的胰岛素抵抗形式(OMIM: 147670)。这种综合征的发生率约为每100万新生儿中有1例。患者具有典型的临床特征,如宫内生长迟缓、面部畸形、严重代谢紊乱、肝肿大和肥厚性心肌病。大多数退行性痴呆患者在生命的头两年内死于呼吸道感染、严重低血糖或进行性心肌病。治疗选择是有限的,没有针对退行性椎体滑移的特异性治疗。鉴于胰岛素和胰岛素样生长因子1 (IGF-1)受体之间的相似性,重组人IGF-1 (rhIGF-1)已被用于治疗包括DS在内的严重胰岛素抵抗。我们报告一例男性患者遗传确诊Donohue综合征,通过胰岛素泵连续皮下输注IGF1成功治疗。经过15个月的IGF1治疗,我们观察到血糖控制、肝功能和心脏肥厚消退的改善。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

[Donohue syndrome and use of continuous subcutaneous IGF1 pump therapy].

[Donohue syndrome and use of continuous subcutaneous IGF1 pump therapy].

[Donohue syndrome and use of continuous subcutaneous IGF1 pump therapy].

[Donohue syndrome and use of continuous subcutaneous IGF1 pump therapy].

Donohue syndrome (DS), also called Leprechaunism, is the most severe form of insulin resistance associated with biallelic mutations in INSR gene (OMIM: 147670). The approximate incidence of this syndrome is 1 per 1000000 births. Patients are present with typical clinical features such as intrauterine growth retardation, facial dysmorphism, severe metabolic disturbances, hepatomegaly and hypertrophic cardiomyopathy. Most DS patients die within the first two years of life due to respiratory infections, severe hypoglycemia or progressive cardiomyopathy. Treatment options are limited and no specific therapy exist for DS. Given the similarities between insulin and insulin-like growth factor 1 (IGF-1) receptors, recombinant human IGF-1 (rhIGF-1) has been used to treat severe insulin resistance including DS.We report the case of a male patient with genetically confirmed Donohue syndrome, successfully treated with continuous subcutaneous IGF1 infusion via insulin pump. We observed improvement of glycemic control, liver function and cardiac hypertrophy regression following 15-month IGF1 therapy.

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来源期刊
Problemy endokrinologii
Problemy endokrinologii Medicine-Endocrinology, Diabetes and Metabolism
CiteScore
1.40
自引率
0.00%
发文量
59
期刊介绍: Since 1955 the “Problems of Endocrinology” (or “Problemy Endocrinologii”) Journal publishes timely articles, balancing both clinical and experimental research, case reports, reviews and lectures on pressing problems of endocrinology. The Journal is aimed to the most topical issues of endocrinology: to chemical structure, biosynthesis and metabolism of hormones, the mechanism of their action at cellular and molecular level; pathogenesis and to clinic of the endocrine diseases, new methods of their diagnostics and treatment. The Journal: features original national and foreign research articles, reflecting world endocrinology development; issues thematic editions on specific areas; publishes chronicle of major international congress sessions and workshops on endocrinology, as well as state-of-the-art guidelines; is intended for scientists, endocrinologists diabetologists and specialists of allied trade, general practitioners, family physicians and pediatrics.
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