Table 1 Subtypes of beta-call monogenic diabetes included in this systematic review
From: Precision treatment of beta-cell monogenic diabetes: a systematic review
Monogenic diabetes subtype | Typical clinical features | Typical treatment approaches |
|---|---|---|
GCK-related hyperglycemia | ● Mild, stable hyperglycemia present from birth ● Often incidentally diagnosed during routine clinical exams or during gestational diabetes screening in pregnancy ● Fasting blood glucose typically ranges between 5.5–8.0 mmol/L and HbA1c between 5.6–7.8% | No pharmacologic treatment |
HNF1A-diabetes | ● Progressive insulin secretory defect with onset of diabetes typically in the second and third decades of life ● Reported to have a lowered renal threshold for glycosuria, which may be an early sign | Sensitive to sulfonylureas |
HNF4A-diabetes | ● Progressive insulin secretory defect with onset typically in the second and third decades of life ● May have fetal macrosomia and hyperinsulinemic hypoglycemia in the neonatal and early-childhood period | Sensitive to sulfonylureas |
HNF1B-diabetes | ● Syndromic form of diabetes with onset in the second and third decades of life, but typically later than in HNF1A- diabetes and HNF4A-diabetes ● Often with renal cysts or other developmental renal diseases (single kidney, horseshoe kidney) ● Other features can include hypoplasia of the pancreas, pancreatic exocrine deficiency, genital tract and biliary abnormalities, hypomagnesemia, and neurodevelopmental disorders (with whole-gene deletions) | Use of OHA reported, most cases insulin-treated |
m.3243A Mitochondrial diabetes | ● Maternally-inherited syndromic form of diabetes, often with sensorineural deafness ● Diabetes typically occurs in the 30 s but onset ranges from 11–68 years ● Other features can include cardiomyopathy, myopathy, epilepsy, lactatemia, macular dystrophy, renal disease (e.g., focal segmental glomerular sclerosis) | Use of OHA reported, most cases insulin-treated |
6q24 Transient neonatal diabetes | ● Neonatal onset of diabetes usually within the first week of life, typically associated with severe intrauterine growth restriction and small for gestation age at birth ● May have macroglossia and umbilical hernia ● Diabetes resolves by 18 months of age (average duration is 3 months) ● Diabetes may relapse in adolescence, or pregnancy (times of increased insulin resistance) or later in adulthood | Insulin or SU in the neonatal phase,Various glucose-lowering treatments in the relapse phase |
SLC19A2-diabetes | ● Diabetes onset is often in the infancy period, but can occur later in childhood or adolescence ● Megaloblastic anemia is responsive to treatment with thiamine ● Other main features include sensorineural deafness | Thiamine for anemia, in most cases insulin-treated |
