Three cases of permanent neonatal diabetes mellitus: genotypes and management outcome
Singapore medical journal
;
: e142-4, 2012.
Article
in English
| WPRIM
| ID: wpr-249698
ABSTRACT
Neonatal diabetes mellitus (DM) is defined as insulin-requiring DM in the first six months of life. Unlike type 1 DM, it is a monogenic disorder resulting from a de novo mutation in the genes involved in the development of the pancreas, β-cell mass or secretory function. The majority of neonatal DM cases are caused by a heterozygous activating mutation in the KCNJ11 or ABCC8 genes that encode the Kir6.2 and SUR1 protein subunits, respectively, in the KATP channel. Sulphonylurea, a KATP channel inhibitor, can restore insulin secretion, hence offering an attractive alternative to insulin therapy. We report three cases of neonatal DM and their genetic mutations. Two patients were successfully switched over to sulphonylurea monotherapy with resultant improvement in the quality of life and a more stable blood glucose profile. Patients with neonatal DM should undergo genetic evaluation. For patients with KCNJ11 and ABCC8 gene mutation, oral sulphonylurea should be considered.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pancreas
/
Physiology
/
Quality of Life
/
Receptors, Drug
/
Sulfonylurea Compounds
/
Therapeutics
/
Blood Glucose
/
ATP-Binding Cassette Transporters
/
Potassium Channels, Inwardly Rectifying
/
Therapeutic Uses
Type of study:
Prognostic study
Limits:
Female
/
Humans
/
Infant
/
Male
/
Infant, Newborn
Language:
English
Journal:
Singapore medical journal
Year:
2012
Type:
Article
Similar
MEDLINE
...
LILACS
LIS