| Popis: |
Maturity-onset diabetes of the young (MODY) is a group of autosomal dominant monogenic diabetes mellitus with a wide range of clinical manifestations that require distinct treatment strategies. MODY9 (OMIM # 612225) is a rare type of MODY, caused by a mutation in the Paired box gene 4 (PAX4).A 19-months boy was admitted to the department of endocrinology at Beijing Children's Hospital due to excessive water drinking, polyuria for over half a month, and wheezing for 3 days.The whole-exon sequencing analysis demonstrated that the child carried the heterozygous missense mutation of c.487T in the 7th exon region of PAX4 gene and diagnosed MODY9.The patient was treated with fluid therapy, ketosis correction, insulin, and anti-infection treatment.After 17 days in the hospital, the blood glucose levels remained stable and the patient was discharged.In Chinese children, the heterozygous mutation of c.487CT in the PAX4 gene can lead to the occurrence of MODY9.Gene sequencing analysis is of great significance in the diagnosis and classification of MODY. |
