Department of Endocrinology and Metabolism, Seth G. S. Medical College and KEM Hospital, Mumbai, India.
Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Center, Bangalore, India.
Horm Metab Res. 2021 Nov;53(11):723-729. doi: 10.1055/a-1654-8542. Epub 2021 Nov 5.
The data on the congenital hyperinsulinism (CHI) in Asian Indian patients is limited. Diazoxide is often unavailable in India, which poses challenge in managing CHI. The study was aimed to present our experience with CHI with a special focus on the effectiveness and cost-effectiveness of octreotide long-acting release (OCT-LAR) among diazoxide-responsive CHI. The data of 14 index cases with CHI registered at our center were retrospectively analyzed. The diagnosis of CHI was based on elevated serum insulin (3.4-32.5 μIU/ml) and C-peptide (0.58-1.98 ng/ml) at the time of symptomatic hypoglycemia (BG≤41 mg/dl). Fourteen patients (13 males) presented at a median (range) age of 3 (1-270) days, seizures being the most common mode of presentation (78.6%). Ten patients were diazoxide-responsive, two were partially responsive, while two were unresponsive. Genetics was available for eight patients; (n=3, 1 novel) and (n=2, both novel) were the most commonly mutated genes. OCT-LAR was offered to eight patients including four with diazoxide-responsive disease and was universally effective. We propose a cost-effective approach to use OCT-LAR in the management of CHI, which may also make it more cost-effective than diazoxide for diazoxide-responsive disease. Five of the 11 (45.5%) patients had evidence of neurological impairment; notably, two patients with mutations had intellectual disability despite diazoxide-responsiveness. We report three novel mutations in CHI-associated genes. We demonstrate the effectiveness of and propose a cost-effective approach to use OCT-LAR in diazoxide-responsive CHI. Mutations in may be associated with abnormal neurodevelopmental outcomes despite diazoxide-responsiveness.
印度亚洲人群先天性高胰岛素血症（CHI）的数据有限。印度通常无法获得二氮嗪，这给 CHI 的治疗带来了挑战。本研究旨在介绍我们在 CHI 方面的经验，特别关注二氮嗪反应性 CHI 中奥曲肽长效释放（OCT-LAR）的有效性和成本效益。我们回顾性分析了在我们中心登记的 14 例 CHI 索引病例的数据。CHI 的诊断基于症状性低血糖（BG≤41mg/dl）时血清胰岛素（3.4-32.5μIU/ml）和 C 肽（0.58-1.98ng/ml）升高。14 例患者（13 例为男性）的中位（范围）年龄为 3（1-270）天，最常见的表现形式为癫痫发作（78.6%）。10 例患者对二氮嗪有反应，2 例部分有反应，2 例无反应。8 例患者的遗传学资料可用；（n=3，1 个新）和（n=2，均为新）是最常见的突变基因。OCT-LAR 用于 8 例患者，包括 4 例二氮嗪反应性疾病患者，且普遍有效。我们提出了一种使用 OCT-LAR 治疗 CHI 的具有成本效益的方法，该方法对于二氮嗪反应性疾病的成本效益可能也优于二氮嗪。11 例患者中有 5 例（45.5%）有神经损伤证据；值得注意的是，尽管对二氮嗪有反应，但携带 突变的 2 例患者有智力障碍。我们报告了 3 个与 CHI 相关基因的新突变。我们证明了 OCT-LAR 在二氮嗪反应性 CHI 中的有效性，并提出了一种使用 OCT-LAR 的具有成本效益的方法。尽管对二氮嗪有反应，但是 突变可能与异常神经发育结局相关。
