Case Report
Copyright ©The Author(s) 2018.
World J Gastroenterol. Sep 21, 2018; 24(35): 4086-4092
Published online Sep 21, 2018. doi: 10.3748/wjg.v24.i35.4086
Table 1 Summary of the mutations reported in the AKR1D1 gene and patient prognoses
VariantZygotic typeAgeSexTreatmentOutcomeINRRef.
c.662C > T (p. P198L)Homozygote8 moFCDCA 8 mg/kg/d CA 8 mg/kg/dAlive and well1.00[7]
c.511delT (frameshift)Homozygote8 wkMCDCA 8 mg/kg/d CA 8 mg/kg/dLiver transplantation; alive and well1.40
c.385C > T (p. L106F)Homozygote6 wkFUDCA 60 mg/d CDCA 30 mg/dLiver transplantation and died2.00
c.467C > G (p. P133R) c.850C > T (p. R261C)Heterozygote8 moFCA 10 mg/kg/dAlive and well/[10]
c.737G > A (p. G223Q)Heterozygote3 moFUDCA 5-10 mg/kg/dAlive and well/[8]
c.217C > T (Arg50 stop)Heterozygote2 moFCDCA 12 mg/kg/dLiver transplantation/
c.850C > T (p.R261C)Homozygote6 mo/CA 8 mg/kg/dDied2.50[1]
c.797G > A (p. R266Q)Heterozygote11 moMUDCA 40 mg/kg/dAlive and well/[13]
c.396C > A (nonsense mutation) c.722A >T (p. D241V)Heterozygote11wkMUDCA 40 mg/kg/d for 4 mo; CDCA 25 mg/kg/dAlive and cerebral dysplasia/
c.866G > A (p. R266Q)Heterozygote6 moMUDCA 7.5 mg/kg/d; CDCA 5 mg/kg/dAlive and well/[12]
c.737G >A (p. G223E) c.850C >T (p. R261C)Heterozygote8 moFUDCA 7.5 mg/kg/d; CDCA 10 mg/kg/dAlive and well/
c.587delG (frameshift)Homozygote9 wkFUCDADied/[11]
c.587delG (frameshift)Homozygote6 moFUCDADied/
c.587delG (frameshift)Homozygote5 wkFCA 15 mg/kg/dAlive and well/
c.579 + 2delT, c.853C > T (p. Q285X)Heterozygote8 moMCDCAAlive and well/[9]