Study of Genetic Imprinting on 3 Cases of Insulin-Dependent Diabetes Mellitus Developed in Early Infantile Period.
- Author:
Seung Mi SONG
;
Jung Sim KIM
;
Myung Ryurl OH
;
Sung Won YANG
;
Hye Kyung HAN
;
Dong Kyu JIN
- Publication Type:Original Article
- Keywords:
Genetic imprinting;
Transient neonatal diabetes
- MeSH:
Chromosome Aberrations;
Diabetes Mellitus, Type 1*;
Diabetes Mellitus, Type 2;
DNA;
Genomic Imprinting*;
Humans;
Infant;
Insulin;
Uniparental Disomy
- From:Journal of Korean Society of Pediatric Endocrinology
1998;3(2):213-218
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Infantile onset diabetes mellitus(especially, neonatal diabetes) is rare disorder and may be transient or permanent. Most patients are full-term but small-for-date infants and typical symptoms occur within the first 4-6 weeks of life, requiring insulin therapy. Neonatal diabetes differs from type 1 diabetes in many aspects and seems to form a distinct entity of inborn pancreatic malfunction. The transient cases often develop type 2 diabetes mellitus later in life. In recent reports, transient neonatal diabetes is associated with paternal uniparental isodisomy and unbalanced duplication of chromosome 6q22-23. In our study, clinical course of case 1 was compatible with transient neonatal diabetes, but chromosomal abnormalities such as above was not shown in DNA analysis. In case 2 and 3, we could not decide exactly on genetic basis.