Prabha Chandra, Tripathi Shalini, Bhriguvanshi Arpita, Kumar Mala
Pediatrics, King George's Medical University, Lucknow, Uttar Pradesh, India
Pediatrics, King George's Medical University, Lucknow, Uttar Pradesh, India.
BMJ Case Rep. 2025 May 11;18(5):e264778. doi: 10.1136/bcr-2024-264778.
Hyperinsulinemic hypoglycaemia (HH) is a heterogeneous disorder causing persistent hypoketotic hypoglycaemia in neonates and infants. Congenital hyperinsulinism (CHI) is a rare cause of HH, resulting from inappropriate insulin secretion by pancreatic β-cells due to genetic defects in key genes, notably ABCC8 and KCNJ11, which encode the SUR1 and Kir6.2 components of the K channels, respectively. We present a case of a neonate with congenital HH with persistent hypoglycaemia since birth, which was managed with high-dose glucose infusions, diazoxide and octreotide. A homozygous pathogenic missense variant, c4253G>A (p.Arg1418His) in Exon 35 of the ABCC8 gene was identified in the neonate, confirming CHI. Despite initial refractoriness to treatment, the infant responded to octreotide therapy, cornstarch and careful management with regular feeds and monitoring, avoiding the need for surgical intervention. This case underscores the critical role of genetic diagnosis and timely management in preventing long-term neurological sequelae.
高胰岛素血症性低血糖症（HH）是一种异质性疾病，可导致新生儿和婴儿持续性低酮性低血糖。先天性高胰岛素血症（CHI）是HH的一种罕见病因，是由于关键基因（特别是ABCC8和KCNJ11）的遗传缺陷导致胰腺β细胞分泌不适当的胰岛素，这两个基因分别编码钾通道的SUR1和Kir6.2亚基。我们报告一例自出生以来就患有先天性HH并持续低血糖的新生儿病例，该病例通过高剂量葡萄糖输注、二氮嗪和奥曲肽进行治疗。在该新生儿中，ABCC8基因第35外显子上鉴定出一个纯合致病性错义变体c4253G>A（p.Arg1418His），确诊为CHI。尽管最初对治疗有抵抗性，但该婴儿对奥曲肽治疗、玉米淀粉以及通过规律喂养和监测进行的精心管理有反应，避免了手术干预的需要。该病例强调了基因诊断和及时管理在预防长期神经后遗症方面的关键作用。
