ABSTRACT
Objective To analyze the clinical characteristics and gene mutations of 56 patients with congenital hyperinsulinism(CHI)and to provide a theoretical basis for clinical diagnosis and treatment of CHI.Methods Fifty-six children who were diagnosed as CHI between February 2002 and January 2016 in Beijing Children's Hospital Affiliated to Capital Medical University were selected as research subjects.A retrospective study was done about the clinical data and the treatment procedures of the 56 patients,such as perinatal conditions,clinical manifestations,laboratory data,treatments,prognosis and so on.Polymerase chain reaction(PCR)-DNA technology or next-generation sequencing technology was used to analyze the CHI relevant genes of the 56 patients.Results Thirty of the 56 patients carried CHI gene mutation.(1)Twenty-three of 56 patients(41.0％)carried ABCC8/KCNJ11 gene mutations:4 of 23 patients carried complex heterozygous mutation,1 of 23 patients carried both ABCC8 and KCNJ11 gene mutation,1 of 23 patients carried maternally inherited ABCC8 gene mutation,12 of 23 patients carried paternally inherited ABCC8 gene mutation,1 of 23 patients carried paternally inherited KCNJ11 gene mutation,3 of 23 patients carried de novo ABCC8 gene mutation,1 of 23 patients had unknown genetic way,19 of 23 patients were treated with Diazoxide,2 of 19 patients were responsive to Diazoxide,7 of 19 patients were unresponsive to Diazoxide and 10 of 19 patients were uncertain to Diazoxide.(2)Five of 56 patients(8.9％)carried GLUD1 gene mutation,4 of 5 patients were treated with Diazoxide and they were all responsive to Diazoxide.(3)One of 56 patients(1.7％)carried de novo GCK gene mutation,responsive to Diazoxide treatment.(4)One of 56 patients(1.7％)carried maternally inherited SLC16A1 gene mutation,responsive to Diazo-xide treatment.Conclusions The ABCC8 gene and GLUD1 gene mutation are the main causative genes of CHI.The GCK gene and SLC16A1 gene mutation are in the minority.Most ABCC8 gene and KCNJ11 gene mutation are unresponsive to Diazoxide treatment.
ABSTRACT
La diabetes MODY (Maturity Onset Diabetes of the Young) comprende un grupo heterogéneo de enfermedades monogénicasque se caracterizan por la disfunción de las células β. Se estima que ellas son responsables de 2-5% de los casos de diabetes. Seconocen más de 200 mutaciones en el gen de la glucoquinasa (GCK). En este trabajo se expone el caso de dos hermanas enlas cuales se realizó el diagnóstico de MODY 2 a través del estudio genético, hallándose una mutación del gen de la GCK nodescripto previamente en la bibliografía.
MODY (maturity onset diabetes of the young) includes a heterogeneous group of monogenic diseases which are characterized bydysfunction of beta cells. It accounts for 2-5% of all cases of diabetes. Over 200 mutations in the glucokinase (GCK) gene are known.In this paper we discuss the cases of two sisters in which the diagnosis of MODY 2 was performed by genetic studies, and report thefinding of a mutation in the GCK gene not previously described in the literature.