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首页> 外文期刊>Endocrine journal >Leprechaunism (Donohue syndrome): A case bearing novel compound heterozygous mutations in the insulin receptor gene
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Leprechaunism (Donohue syndrome): A case bearing novel compound heterozygous mutations in the insulin receptor gene

机译：妖精症（Donohue综合征）：一例在胰岛素受体基因中出现新型复合杂合突变的病例

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摘要

Leprechaunism (Donohue syndrome) is the most severe type of insulin receptor (INSR) gene anomaly with the majority of patients surviving for only 2 years. We report a surviving 2 -year-old male with leprechaunism, bearing novel compound heterozygous mutations in the INSR. The patient is a Japanese boy with acanthosis nigricans, lack of subcutaneous fat, hirsutism, thick lips, gum hypertrophy and extremely high insulin levels (6702 mU/mL). He was as having identified novel compound heterozygous mutations in INSR (p.T910M and p. E1047K). At 24 day-old, recombinant human insulin-like growth factor 1 (rh-IGFI) treatment was started because of poor weight gain. At 2 years old, the patient's serum glucose level and HbAlC value had worsened, and both a bolus of rh-IGF-1 and a subcutaneous injection of a rapid-acting insulin analog after meals, in addition to α-glycosidase inhibitor, were initiated from 2 years onward. Oxygen administration and biphasic positive airway pressure treatment were also initiated from 2 years old due to upper airway obstruction with adenoidal hypertrophy. In the experiments conducted using C0S7 cells homozygously transfected with the INSR mutation, T910M INSR failed to process the proreceptor and decreased insulin-stimulated tyrosine phosphorylation. E1047K INSR resulted in a complete absence of insulin-stimulated tyrosine phosphorylation. These findings suggest the near absence of INSR in this patient. We consider that the rhIGFl treatment contributed to his long survival, but it was not able to prevent his diabetic condition. Our report provides important insights into the function of INSR, and for the treatment of leprechaunism.
机译：妖精症（Donohue综合征）是最严重的胰岛素受体（INSR）基因异常类型，大多数患者仅存活2年。我们报告了一个幸存的2岁男性，患有妖精症，在INSR中带有新型复合杂合突变。该患者为日本男孩，患有黑棘皮病，皮下脂肪缺乏，多毛症，嘴唇浓密，牙龈肥大和胰岛素水平极高（6702 mU / mL）。他被认为在INSR中发现了新的复合杂合突变（p.T910M和p.E1047K）。由于体重增加不佳，在24天大时开始了重组人胰岛素样生长因子1（rh-IGFI）的治疗。 2岁时，患者的血清葡萄糖水平和HbAlC值变差，除了α-糖苷酶抑制剂外，还开始了大剂量的rh-IGF-1推注和饭后皮下注射速效胰岛素类似物。从2年起。由于上呼吸道阻塞并伴有腺样体肥大，从2岁开始也开始给予氧气和双相气道正压治疗。在使用经INSR突变纯合转染的C0S7细胞进行的实验中，T910M INSR无法处理受体并降低了胰岛素刺激的酪氨酸磷酸化。 E1047K INSR导致完全不存在胰岛素刺激的酪氨酸磷酸化。这些发现表明该患者几乎没有INSR。我们认为rhIGF1治疗有助于他的长生存期，但是不能预防他的糖尿病状况。我们的报告提供了有关INSR功能以及治疗妖精症的重要见解。

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  • 来源
    《Endocrine journal》 |2013年第1期|107-112|共6页
  • 作者

    Yuki Kawashima$; Rei Nishimura; Akari Utsunomiya; Reiko Kagawa; Hiroaki Funata; Masanobu Fujimoto; Keiichi Hanaki; Susumu Kanzaki;

  • 作者单位

    Division of Pediatrics & Perinatology, Tottori University Faculty of Medicine, 36-1 Nishi- cho, Yonago 683-8504, Japan;

    Division of Pediatrics & Perinatology, Tottori University Faculty of Medicine, Yonago 683-8504, Japan;

    Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima 734-8551, Japan;

    Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima 734-8551, Japan;

    Division of Pediatrics & Perinatology, Tottori University Faculty of Medicine, Yonago 683-8504, Japan;

    Division of Pediatrics & Perinatology, Tottori University Faculty of Medicine, Yonago 683-8504, Japan;

    Division of Pediatrics & Perinatology, Tottori University Faculty of Medicine, Yonago 683-8504, Japan;

    Division of Pediatrics & Perinatology, Tottori University Faculty of Medicine, Yonago 683-8504, Japan;

  • 收录信息 美国《科学引文索引》(SCI);美国《化学文摘》(CA);
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类
  • 关键词

    leprechaunism; insulin receptor; recombinant IGF1;

    机译：妖精主义胰岛素受体重组IGF1;

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