Case Report
Copyright ©The Author(s) 2023.
World J Diabetes. Jul 15, 2023; 14(7): 1137-1145
Published online Jul 15, 2023. doi: 10.4239/wjd.v14.i7.1137
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
pH7.29
HCO3- (mmol/L)14.6
ABE16.6
SBE16.7
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
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]MODY9Heterozygous IVS7-1G>AThailandYes44FemaleNANA-NANA
Chapla et al[25]MODYHeterozygous c.92G>TAsian-IndianYes14Male23NA-Glimepiride and insulinNA
Jo et al[19]MODYHeterozygous c.374-412 del 39JapaneseYes15Male18.214.5-Insulin7.4
Cho et al[20]MODYHomozygous c.575G>aKoreanNo22Male25.313.8NANANA
Abreu et al[24]MODYHeterozygous c.491G>ABrazilianYes32Female21.6NA-InsulinNA
BrazilianYes56Female29.4811.3-Metformin and gliclazideNA
BrazilianYes49Female23.616-MetforminNA
Schmidt et al[21]Ketosis-prone diabetesHeterozygous c.109C>TAfricanNo38Male28.4> 14-Insulin7.0
Mauvais-Jarvis et al[26]Ketosis-prone diabetesHomozygous R133WWest AfricanYes47Male29.113.8-Drugs6.6
West AfricanYes22Male18.512.2-Drugs5.1
West AfricanYes38Male28.314.1-Insulin6.2
West AfricanYes20Male26.512.5-Insulin7.3
Heterozygous R37WWest AfricanYes39Male30.411.6-Insulin8.2
Kanatsuka et al[27]Late-onset diabeticHomozygous R121WJapaneseYes37Male21.57.6-InsulinNA
JapaneseNo71Male22.87.1-InsulinNA
JapaneseYes71Female20.36.2+DrugsNA
Shimajiri et al[23]T2DMHomozygous R121WJapaneseNo29Female22.212.6-Insulin7.3
Present caseT1DMHeterozygous c.314G>AChineseNo42Female31.8510.3+Lifestyle control7.3