NR1H4-related Progressive Familial Intrahepatic Cholestasis 5: Further Evidence for Rapidly Progressive Liver Failure
We describe 3 additional children from 2 unrelated families with cholestasis and liver failure because of pathologic variants in NR1H4. One patient underwent liver transplantation and has had good clinical outcomes in 6 years of follow-up. Although that patient has biochemical evidence of increased bile acid synthetic activity, he has not experienced post-transplant diarrhea or allograft steatosis, as has been reported among other transplanted patients.
Publication date: Available online 7 July 2020Source: Clinics and Research in Hepatology and GastroenterologyAuthor(s): Florence Perrault, Philippe Echelard, Daniel Viens, Martin Borduas
Authors: Saleem K, Cui Q, Zaib T, Zhu S, Qin Q, Wang Y, Dam J, Ji W, Liu P, Jia X, Wu J, Bai J, Fu S, Sun W Abstract Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a hepatic disorder occurring predominantly in childhood and is difficult to diagnose. PFIC3, being a rare autosomal recessive disease, is caused by genetic mutations in both alleles of ABCB4, resulting in the disruption of the bile secretory pathway. The identification of pathogenic effects resulting from different mutations in ABCB4 is the key to revealing the internal cause of disease. These mutations cause truncation, instability, mis...
In conclusion, these data suggested that the liver injury induced by ANIT may be cholestatic, while the liver injury caused in the LCA model may be hepatocellular. Moreover, the downstream cholestatic liver injury in both models was indicated to be mediated by the JNK/STAT3 signaling pathway. PMID: 32626965 [PubMed - as supplied by publisher]
CONCLUSION: Our case illustrates the complexities of multiple genetic mutations in a child. PMID: 32597698 [PubMed - as supplied by publisher]
In conclusion, OCA administration during gestation had no apparent detrimental impact on maternal or fetal morphometry and improved fetal hypercholanemia. As high serum bile acid concentrations in ICP are associated with increased rates of adverse fetal outcomes, further investigations into the potential use of OCA during cholestatic gestation are warranted. PMID: 32597707 [PubMed - as supplied by publisher]
This study confirmed that dexamethasone exposure during pregnancy was related to maternal intrahepatic cholestasis of pregnancy and should be carefully monitored in clinical settings. PMID: 32599024 [PubMed - as supplied by publisher]
The prevalence of liver diseases in pregnancy is estimated at near 3% of all pregnancies in developed countries, including liver diseases induced by pregnancy or those revealed during pregnancy. Five liver disorders are specific to pregnancy: hyperemesis gravidarum, intrahepatic cholestasis, liver disorders associated with pre-eclampsia (PE), Hemolysis, Elevated Liver enzymes, and Low Platelet count syndrome (HELLP), and Acute Fatty Liver of pregnancy (AFLP). AFLP, initially described in 1940 , typically occurs during the third trimester of pregnancy, with an incidence ranging between 1/5,000 and 1/20,000 pregnancies [3 –6].
CONCLUSIONS: This updated Cochrane Review did not identify any randomised controlled trials assessing interventions for treating intrahepatic cholestasis in people with sickle cell disease. Randomised controlled trials are needed to establish the optimum treatment for this condition. PMID: 32567054 [PubMed - in process]
In conclusion, these results demonstrated that S1PR1 selective agonists might be the novel and potential effective agents for the treatment of intrahepatic cholestasis by recovering dysregulated BA homeostasis. PMID: 32579994 [PubMed - as supplied by publisher]
In conclusion, emodin has a good effect on liver protection, but further experimental data are needed to verify it. PMID: 32553811 [PubMed - as supplied by publisher]