Maturity-onset diabetes of the young type 10 caused by an Ala2Thr mutation of INS: A case report

Table 1 Human leukocyte antigen genotype of the proband

Gene	Allele1	Allele2
HLA-DRB1	DRB1 09:01	DRB1 09:01
HLA-DQA1	DQA1 03:03	DQA1 03:03
HLA-DQB1	DQB1 03:02	DQB1 03:03
HLA-A	A 02:01	A 24:02
HLA-B	B 51:01	B 51:01
HLA-C	C 01:02	C 01:02

HLA: Human leukocyte antigen.

Table 2 The clinical features of maturity-onset diabetes of the young patients

Subtype	Gene mutation	Prevalence	Clinical feature	Treatment
MODY1	HNF4A	Common	One-half of patients are neonatal macrosomia; blood sugar control deteriorates gradually as the disease advances; low levels of apolipoproteins and triglycerides; without insulin resistance or β cell autoimmunity	Medication-free in the early stage; sensitive to sulfonylureas
MODY2	GCK	Common	Slight elevation in fasting blood glucose and glycated hemoglobin levels; usually asymptomatic	Typically does not require medication
MODY3	HNF1A	Common	Renal glucose threshold is decreased; low levels of hs-CRP; without insulin resistance or β cell autoimmunity; similar to MODY1	Sensitive to sulfonylureas
MODY4	PDX1/IPF1	Rare	Overweight/obesity in some patients; commonly occurs post-puberty; postprandial blood sugar usually rises significantly	Mostly treated with insulin
MODY5	HNF1B	Uncommon	Often combined with genitourinary malformations, hepatic dysfunction, renal dysfunction, renal cysts, hyperuricemia, exocrine pancreas insufficiency; onset occurs typically during adolescence or early adulthood.	Early insulin therapy may be required
MODY6	NEUROD1	Rare	Phenotype is different. Overweight/obesity, intellectual disabilities and brain abnormalities occur in some patients	Significant variations in treatment regimens
MODY7	KLF11	Extremely rare	Mild hyperglycemia, hyperlipidemia	Insulin
MODY8	CEL	Extremely rare	Impaired endocrine and exocrine pancreatic function	Insulin
MODY9	PAX4	Extremely rare	Progressive hyperglycemia; ketoacidosis may occur	Mostly treated with insulin
MODY10	INS	Rare	Earlier onset of diabetes, an increased risk of diabetic microvascular complication; degree of islet dysfunction varies	Significant variations in treatment regimens
MODY11	BLK	Extremely rare	Overweight/obesity in some patients	Most patients require insulin, but some may be treated with diet or oral hypoglycemic agents
MODY12	ABCC8	Rare	Common in neonatal diabetes, symptoms are similar to MODY1 and 3	Sensitive to sulfonylureas
MODY13	KCNJ11	Extremely rare	Common in neonatal diabetes, some patients develop diabetes from the second decade of life onwards	Sensitive to sulfonylureas
MODY14	APPL1	Extremely rare	Overweight/obesity in some patients	Significant variations in treatment regimens

MODY: Maturity-onset diabetes of the young; CRP: High-sensitivity C-reactive protein.

Table 3 Clinical and biochemical parameters of all Ala2Thr mutation carriers

	Our study		Zhang et al[7]				Yan et al[6]
No.	1	2	1	2	3	4	1	2	3	4	5	6
Age (yr)	53	48	25	46	42	69	/	47	66	58	34	62
Sex	Female	Female	Male	Female	Male	Male	Male	Male	Male	Female	Male	Male
Onset age of diabetes (yr)	27	Around 40	22	39	33	50	31	47	66	54	34	57
BMI (kg/m2)	20.24	23.5	21.7	23.9	21	24.2	/	24.54	24.21	28.94	23	23.1
HbA1c (%)	9.1	/	7.6	6.8	7.7	9.8	/	5.6	7.6	7.7	10.9	7.2
FBG (mmol/L)	6.8	/	9.3	7.8	8.3	9.6	16	5.65	8.98	9.44	5.53	8.34
PBG (mmol/L)	21.8	/	11.9	12.7	15.2	17.8	/	5.02	18.82	19.99	17.69	16.85
FINS (pmol/L)	/	/	51.54	61.30	57.11	84.28	/	48.84	26.52	277.56	56.04	85.8
PINS (pmol/L)	/	/	206.16	190.84	134.42	314.12	/	507.3	52.62	562.62	121.38	478.26
FCP (pmol/L)	135.4	/	/	/	/	/	/	/	/	/	/	/
PCP (pmol/L)	600.1	/	/	/	/	/	/	/	/	/	/	/
GADA	+	/	-	-	-	-	-	-	-	-	-	-
IA-2A	/	/	-	-	-	-	-	-	-	-	-	-
Diagnosis	DM	DM	DM	DM	DM	DM	DM	IGT	DM	DM	DM	DM
Complications	DKD, DPN, macroangiopathy	None	/	/	/	/	/	/	/	/	/	/
Therapy	OHA + Insulin	Insulin	OHA→Insulin	OHA	OHA	OHA	OHA	-	OHA	-	OHA	OHA

BMI: Body mass index; HbA1c: Hemoglobin A1c; FBG: Fasting blood glucose; PBG: 2h postprandial blood glucose; FINS: Fasting insulin; PINS: 2h postprandial insulin; FCP: Fasting C-peptide; PCP: 2h postprandial C-peptide; GADA: Glutamic acid decarboxylase antibody; IA-2A: Islet antigen 2 antibody; DM: Diabetes mellitus; DKD: Diabetic kidney disease; DPN: Diabetic peripheral neuropathy; OHA: Oral hypoglycemic agent; IGT: Impaired glucose tolerance.