Table 3. Clinical characteristics of 13 patients diagnosed with autoantibody-negative type 1 diabetes mellitus and genetic identification with variants of uncertain significance detected according to According to the American College of Medical Genetics and Genomics.
|
No |
MODY gene |
Age at diagnosis (year) |
Gender |
Family history for MODY/generations |
Clinical presentation |
HbA1c % level at diagnosis |
Follow-up treatment |
|
1 |
HNF1A |
10.1 |
Male |
+/3 |
Hyperglycaemia |
8.4 |
Diet, sulfonylurea |
|
2 |
HNF1A |
14 |
Female |
+/3 |
Hyperglycaemia |
7.1 |
Diet, sulfonylurea, insulin |
|
3 |
HNF1B |
4.0 |
Male |
-/1 |
Diabetic ketoacidosis |
8.9 |
Insulin |
|
4 |
HNF1B |
8.3 |
Female |
NA |
Diabetic ketoacidozis |
9.4 |
Insulin |
|
5 |
HNF4A |
2.3 |
Male |
+/3 |
Hyperglycaemia |
6.9 |
Diet, sulfonylurea, insulin |
|
6 |
BLK |
1.5 |
Male |
+/2 |
Hyperglycaemia |
7.4 |
Diet, sulfonylurea, insulin |
|
7 |
BLK |
10 |
Female |
No |
Hyperglycaemia |
10.2 |
Diet, sulfonylurea, insulin |
|
8 |
PAX4 |
5.5 |
Female |
+/2 |
Diabetic ketoacidosis |
8.8 |
Diet, sulfonylurea, insulin |
|
9 |
INS |
10.5 |
Female |
+/2 |
Diabetic ketoacidosis |
9.2 |
Diet, diet, sulfonylurea, insulin |
|
10 |
KLF11 |
8.5 |
Male |
+/2 |
Diabetic ketosis |
7.7 |
Diet, sulfonylurea, insulin |
|
11 |
ABCC8 |
2.4 |
Male |
+/2 |
Hyperglycaemia |
7.1 |
Sulfonylurea |
|
12 |
ABCC8 |
4.2 |
Male |
+/2 |
Hyperglycaemia |
7.3 |
Sulfonylurea |
|
13 |
RFX6 |
2.4 |
Male |
No |
Diabetic ketosis |
7.4 |
Diet, sulfonylurea, insulin |
OADs: oral antidiabetic drugs, NA: not available, HbA1c: glycated hemoglobin