Introduction: Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive disease characterized by recurrent episodes of severe pruritus and jaundice. Although the disease symptom will relieve spontaneously without leaving any hepatic injury, the ceaseless attacks would reduce the life quality of patients. However, there is not a validated treatment for BRIC yet. Considering the limited cases and the unpredictability of this disease, the publications of well-described case reports are necessary for the investigation of disease development and treatment efficacy.Case Presentation: A 26-year-old Chinese male, with clinical approved and genetic diagnosis of BRIC, experienced 3 attacks of recurrent intrahepatic cholestasis from 2010 to 2016. During hospitalizations, he received symptomatic treatments and plasmapheresis therapies. Both plasma exchange (PE) and plasma bilirubin adsorption (PBA) were conducted for him. The whole-exome sequencing revealed several single nucleotide polymorphisms (SNPs) as well as 2 novel mutations in ABCB11 (c.70A > T, p.Lys24*, exon2 and c.1417G > A, p.Asp473Asn, exon13). These SNPs and mutations might be associated with the BRIC development.
Conclusions:Both medications and plasmapheresis interventions could relieve the patient's symptoms, however, neither could shorten the natural process of the disease. The 2 mutations (c.70A > T and c.1417G > A) in ABCB11 were first reported in a BRIC patient.
Background
To evaluate the efficacy and safety of telbivudine in chronic hepatitis B women during the second and third trimesters of pregnancy.
Methods
The week 12–34 of pregnant women were screened in this prospective non-intervention study, with HBV DNA > 10
6
IU/mL and alanine aminotransferase > 50 IU/L. The patients were received telbivudine treatment as a treatment group or without antiviral treatment as a control group. All infants were received recombinant hepatitis B vaccine 10 μg within 12 h of birth, at week 4 and week 24, immunoglobulin G within 12 h of birth and were detected HBV markers at the range from 7 to 12 months after delivery.
Results
A total of 241 patients were finally enrolled, 139 patients in telbivudine group and 102 patients in control group. HBsAg negative rate of infants was 99.3% (135/136) in telbivudine group and was 91.9% (91/99) in control group after 7 months (
P
= 0.005), respectively. The incidence of undetectable HBV DNA levels (47.5%) was significantly lower in telbivudine-treated mothers than that in the controls (0%), and 75.5% patients alanine aminotransferase returned to normal in telbivudine group, and 51% in control group at delivery (
P
< 0.001), respectively.
Conclusions
Telbivudine can safely reduce mother-to-child transmission in chronic hepatitis B women after 12 weeks of gestation.
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