Diazoxide-Induced Neutropenia and Long-Term Follow-up in a Patient with Hyperinsulinemia-Hyperammonemia due to GLUD1 Mutation.

D. Vurallı, S. Aytac Eyupoglu, N. Kandemir, A. Ozon, N. Gonc, A. Alikaşifoğlu
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引用次数: 2

Abstract

Hyperinsulinism/hyperammonemia (HI/HA) syndrome is caused by activating mutations in GLUD1 gene, and causes fasting as well as protein sensitive symptomatic hypoglycemia, in addition to persistently elevated plasma ammonia levels. First-line treatment is diazoxide, and most patients respond well to this agent, however side effects may be observed. The most frequent side effect of diazoxide is fluid retention and hypertrichosis, while hyperuricemia and hematologic side effects are observed less often. Herein, we report a case who had a heterozygous mutation of GLUD1 gene and who developed diazoxide related neutropenia 8 years after the start of treatment. On follow-up, leucopenia and mild neutropenia persisted and the treatment was changed to somatostatin analogues. However, she developed persistent severe symptomatic hypoglycemia and required diazoxide retreatment. A lower dose of diazoxide (6 mg/kg/day) successfully controlled hypoglycemia and cell counts increased even though they were not normalized. Neutropenia in current case presented after a long period of time of diazoxide use and this period is the longest defined in the literature. Long-term endocrine and hematologic follow-up of this patient up to 18 years old will also be presented.
GLUD1突变引起的高胰岛素-高氨血症患者的二氮唑诱导中性粒细胞减少和长期随访。
高胰岛素血症/高氨血症(HI/HA)综合征是由GLUD1基因突变激活引起的,除了持续升高的血浆氨水平外,还会导致空腹和蛋白质敏感的症状性低血糖。一线治疗是二氮氧化合物,大多数患者对该药物反应良好,但可能会观察到副作用。二氮氧化物最常见的副作用是液体潴留和多毛,而高尿酸血症和血液学副作用则较少观察到。在此,我们报告了一例GLUD1基因杂合突变,在治疗开始8年后出现二氮氧化物相关中性粒细胞减少症的病例。在随访中,白细胞减少和轻度中性粒细胞减少持续存在,治疗改为生长抑素类似物。然而,她出现了持续严重的症状性低血糖,需要二氮氧化合物再治疗。较低剂量的二氮氧化物(6mg /kg/天)成功地控制了低血糖和细胞计数增加,即使它们没有正常化。在本病例中,中性粒细胞减少症是在长时间使用二氮氧化合物后出现的,这是文献中最长的一段时间。该患者的长期内分泌和血液学随访至18岁也将提出。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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