Abstract

Diabetes mellitus (DM) in children is most often caused by impaired insulin secretion (type 1 DM). In some children, the underlying mechanism for DM is increased insulin resistance, which can have different underlying causes. While the majority of these children require insulin dosages less than 2.0 U/kg/day to achieve normoglycemia, higher insulin requirements indicate severe insulin resistance. Considering the therapeutic challenges in patients with severe insulin resistance, early diagnosis of the underlying cause is essential in order to consider targeted therapies and to prevent diabetic complications. Although rare, several disorders can attribute to severe insulin resistance in pediatric patients. Most of these disorders are diagnosed through advanced diagnostic tests, which are not commonly available in low- or middle-income countries. Based on a case of DM with severe insulin resistance in a Surinamese adolescent who was later confirmed to have autosomal recessive congenital generalized lipodystrophy, type 1 (Berardinelli-Seip syndrome), we provide a systematic approach to the differential diagnosis and work-up. We show that a thorough review of medical history and physical examination generally provide sufficient information to diagnose a child with insulin-resistant DM correctly, and therefore, our approach is especially applicable to low- or middle-income countries.

中文翻译：

---

在低收入或中等收入国家诊断患有严重胰岛素抵抗的儿科患者的方法

摘要

儿童糖尿病 (DM) 最常见的原因是胰岛素分泌受损（1 型 DM）。在一些儿童中，DM 的潜在机制是胰岛素抵抗增加，这可能有不同的潜在原因。虽然这些儿童中的大多数需要低于 2.0 U/kg/天的胰岛素剂量才能达到正常血糖，但更高的胰岛素需求表明存在严重的胰岛素抵抗。考虑到严重胰岛素抵抗患者的治疗挑战，早期诊断根本原因对于考虑靶向治疗和预防糖尿病并发症至关重要。虽然罕见，但有几种疾病可归因于儿科患者的严重胰岛素抵抗。大多数这些疾病是通过高级诊断测试来诊断的，这在低收入或中等收入国家并不常见。基于一名苏里南青少年患有严重胰岛素抵抗的 DM 病例，该病例后来被证实患有 1 型常染色体隐性遗传性先天性全身性脂肪代谢障碍（Berardinelli-Seip 综合征），我们提供了一种系统的鉴别诊断和检查方法。我们表明，对病史和体格检查的全面审查通常可以提供足够的信息来正确诊断患有胰岛素抵抗 DM 的儿童，因此，我们的方法特别适用于低收入或中等收入国家。