[ABCC8 gene analysis, treatment and follow-up of an infant with neonatal diabetes mellitus].

OBJECTIVE

To analyze the clinical characteristics of an infant with neonatal diabetes mellitus (NDM) and to sequence the ABCC8 gene of this family in order to provide a theoretical basis for the diagnosis and treatment.

METHODS

The clinical data of the patient was collected, and the proband and his direct relatives within three generations were sequenced.

RESULTS

The patient was 1-month-old, random blood glucose was more than 27.8 mmol/L, C-peptide was 33.8 pmol/L, blood gas analysis was pH 7.16, HCO3- 3.9 mmol/L and urine alkone was 3+. Genetic testing revealed that the patient, his father, elder brother and grandmother have carried heterozygous mutation c.2690A>T(p.D897V) of the ABCC8 gene. Fluid infusion, intravenous administration of insulin and other supportive therapies were provided. After the correction of acidosis, subcutaneous insulin injection were uesd to control the blood glucose. Eight months later, blood glucose was pooly controlled. After combined with glibenclamide, blood glucose was under control.

CONCLUSION

The patient carries a heterozygous mutation c.2690A>T(p.D897V) of ABCC8 gene, which is a novel mutation. Glibenclamide was partly effective for the patient.