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

OBJECTIVE

To explore the clinical presentation and molecular genetic characteristics of a cohort of congenital hyperinsulinism (CHI) patients from southern China and also to explore the most appropriate therapeutic approaches.

METHODS

We retrospectively reviewed a cohort of 65 children with CHI. Mutational analysis was performed for and genes. The gene was sequenced in patients with hyperammonaemia. gene sequencing was performed in those patients with no mutation identified in the or genes.

RESULTS

mutations were identified in 16 (25%) of the cohort, mutations were identified in five children, and no or mutations were identified. Moreover, some unique features of gene mutations in southern Chinese CHI patients were found in this study. The most common mutation was a deletion/insertion mutation p.Thr1042GlnfsX75 was found in five unrelated patients, which possibly represents a relatively common mutation in southern China. Five novel mutations were detected. The mutations were p.Phe5SerfsX72, p.Gln273ArgfsX85, p.Leu724del, p.Asp1447Gly and IVS 25-1G>T. Five compound heterozygous mutations of gene were identified in this study, and three of these patients were diazoxide-responsive. Forty patients were diazoxide-responsive, 13 patients were diazoxide-unresponsive and 12 patients received dietary treatment only. A pancreatectomy was performed in 10 patients who were unresponsive to medical treatment.

CONCLUSION

To the best of our knowledge, this is the first study of CHI in south China. Mutations in are the most common causes of CHI in this cohort. Diazoxide and dietary treatment were effective in most patients. Multicentre studies are necessary to obtain the long-term follow-up characteristics of such patients at a national level.