Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China

Xu, Anlong; Cheng, Jiang; Sheng, Huiying; Wang, Zhe; Lin, Yunting; Zhou, Zhihong; Zeng, Chunhua; Shao, Youxiang; Li, Cuiling; Liu, Li; Li, Xiuzhen

doi:10.4274/jcrpe.galenos.2019.0046

Cited by 1 publication

(2 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The study cohort included 42 patients with female to male ratio; 1.5:1. This female predominance is different from previous reports which showed average male: female ratio of 1.2:1 17‐19 …”

Section: Discussioncontrasting

confidence: 99%

See 1 more Smart Citation

Clinical characteristics, outcome, and predictors of neurological sequelae of persistent congenital hyperinsulinism: A single tertiary center experience

2021

View full text Add to dashboard Cite

Aim Congenital hyperinsulinism (CHI) is a heterogeneous disease with variable genetic etiology, histopathology, and clinical phenotype. This study aims to describe the clinical characteristics of persistent CHI and evaluate long‐term neurological outcome and its risk factors in a cohort of Egyptian children. Methods Clinical, genetic, and biochemical data of 42 patients with CHI were collected. Patients were invited for neurological assessment, electroencephalogram, and magnetic resonance imaging of the brain. Results ABCC8 mutation was found in (61%) of cases who underwent genetic testing (17/28). Five cases with homozygous biparental ABCC8 mutation responded to combined diazoxide and octreotide without needing surgery. Seven out of twenty‐one patients who had pancreatectomy (33%) developed diabetes after a median period of 4.8 (range:1–10) years following surgery. Fifty‐five percent of our patients had neurodevelopmental impairment at follow‐up. Logistic regression analysis has shown that delayed referral to tertiary centre for more than 8 days, delayed diagnosis of CHI for more than 14 days and hospital admission for more than 30 days, are significant predictors of unfavorable neurological sequelae in CHI; (OR = 12.7 [2.56], p = 0.001), (OR = 12.7 [2.9–56], p = 0.001), and (OR = 3.8 [0.14.5], p = 0.043), respectively. Conclusions ABCC8 mutation was the commonest genetic mutation underlying CHI in this study group. CHI cases with biparental homozygous ABCC8 mutation may show response to combined octreotide and diazoxide therapy. More than half of our patients had neurodevelopmental impairment at follow‐up. Delayed referral to expert centre, delayed diagnosis and longer hospital stay are significant predictors of neurological disability in CHI cases.

show abstract

Section: Discussioncontrasting

confidence: 99%

“…Helleskov et al 6 reported early onset CHI in 67% of cases and Rasmussen et al 17 found out that 62.5% of cases of diffuse CHI were symptomatic in the first month of life. On the other hand, only 45% of 65 Chinese patients with CHI, showed early onset of the disease 18 …”

Section: Discussionmentioning

confidence: 97%