Maturity-onset diabetes of the young type 9 or latent autoimmune diabetes in adults: A case report and review of literature

Table 1 Clinical features and laboratory results of the patient

Parameter	Values
Age at onset (yr)	42
Weight (kg)	79.5
Height (cm)	158
BMI (kg/m2)	31.85
FBG (mmol/L)	14.54
HbA1c (%)	10.3
pH	7.29
HCO3- (mmol/L)	14.6
ABE	16.6
SBE	16.7
ICA (COI)	45.20
GAD (IU/mL)	> 2000.00
IAA (COI)	2.10
KET (mmol/L)	+-
UA (µmol/L)	484.7
TG (mmol/L)	1.23
TC (mmol/L)	4.22
HDL (mmol/L)	1.01
LDL (mmol/L)	2.89
ALT (U/L)	44.8
AST (U/L)	40.4
ALP (U/L)	66.6
GGT (U/L)	34.0

ABE: Actual base excess; ALP: Alkaline phosphatase; ALT: Alanine transaminase; AST: Aspartate transaminase; BMI: Body mass index; FBG: Fasting blood glucose; GAD: Glutamic acid decarboxylase; GGT: γ-glutamyl transpeptidase; HbA1c: Glycated hemoglobin; HCO₃^-: Bicarbonate; HDL: High-density lipoprotein cholesterol; IAA: Insulin autoantibodies; ICA: Islet cell autoantibodies; KET: Urinary ketones; LDL: Low-density lipoprotein cholesterol; SBE: Standard base excess; TC: Total cholesterol; TG: Triglyceride; UA: Uric acid.

Table 2 Articles describing the characteristics of clinical cases carrying the PAX4 mutant gene

Ref.	Diagnosis	PAX4 variant	Ethnicity	Family history	Diagnostic age (yr)	Sex	BMI (kg/m2)	HbA1c, %	Insulin antibody, +/-	Treatment	HbA1c % at remission
Sujjitjoon et al[22]	MODY9	Heterozygous IVS7-1G>A	Thailand	Yes	44	Female	NA	NA	-	NA	NA
Chapla et al[25]	MODY	Heterozygous c.92G>T	Asian-Indian	Yes	14	Male	23	NA	-	Glimepiride and insulin	NA
Jo et al[19]	MODY	Heterozygous c.374-412 del 39	Japanese	Yes	15	Male	18.2	14.5	-	Insulin	7.4
Cho et al[20]	MODY	Homozygous c.575G>a	Korean	No	22	Male	25.3	13.8	NA	NA	NA
Abreu et al[24]	MODY	Heterozygous c.491G>A	Brazilian	Yes	32	Female	21.6	NA	-	Insulin	NA
			Brazilian	Yes	56	Female	29.48	11.3	-	Metformin and gliclazide	NA
			Brazilian	Yes	49	Female	23.61	6	-	Metformin	NA
Schmidt et al[21]	Ketosis-prone diabetes	Heterozygous c.109C>T	African	No	38	Male	28.4	> 14	-	Insulin	7.0
Mauvais-Jarvis et al[26]	Ketosis-prone diabetes	Homozygous R133W	West African	Yes	47	Male	29.1	13.8	-	Drugs	6.6
			West African	Yes	22	Male	18.5	12.2	-	Drugs	5.1
			West African	Yes	38	Male	28.3	14.1	-	Insulin	6.2
			West African	Yes	20	Male	26.5	12.5	-	Insulin	7.3
		Heterozygous R37W	West African	Yes	39	Male	30.4	11.6	-	Insulin	8.2
Kanatsuka et al[27]	Late-onset diabetic	Homozygous R121W	Japanese	Yes	37	Male	21.5	7.6	-	Insulin	NA
			Japanese	No	71	Male	22.8	7.1	-	Insulin	NA
			Japanese	Yes	71	Female	20.3	6.2	+	Drugs	NA
Shimajiri et al[23]	T2DM	Homozygous R121W	Japanese	No	29	Female	22.2	12.6	-	Insulin	7.3
Present case	T1DM	Heterozygous c.314G>A	Chinese	No	42	Female	31.85	10.3	+	Lifestyle control	7.3

BMI: Body mass index; MODY: Maturity-onset diabetes of the young; NA: Not available; T1DM: Type 1 diabetes mellitus; T2DM: Type 2 diabetes mellitus.