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.
Source: Journal of Pediatric Gastroenterology and Nutrition - Category: Gastroenterology Tags: Short Communication: Hepatology Source Type: research

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Publication date: Available online 7 July 2020Source: Clinics and Research in Hepatology and GastroenterologyAuthor(s): Florence Perrault, Philippe Echelard, Daniel Viens, Martin Borduas
Source: Clinics and Research in Hepatology and Gastroenterology - Category: Gastroenterology Source Type: research
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...
Source: Disease Markers - Category: Laboratory Medicine Tags: Dis Markers Source Type: research
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]
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
CONCLUSION: Our case illustrates the complexities of multiple genetic mutations in a child. PMID: 32597698 [PubMed - as supplied by publisher]
Source: Fetal and Pediatric Pathology - Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research
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]
Source: American Journal of Physiology. Gastrointestinal and Liver Physiology - Category: Physiology Authors: Tags: Am J Physiol Gastrointest Liver Physiol Source Type: research
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]
Source: Toxicology Letters - Category: Toxicology Authors: Tags: Toxicol Lett Source Type: research
The prevalence of liver diseases in pregnancy is estimated at near 3% of all pregnancies in developed countries[1], 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 [2], typically occurs during the third trimester of pregnancy, with an incidence ranging between 1/5,000 and 1/20,000 pregnancies [3 –6].
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Full length article Source Type: research
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]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
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]
Source: Toxicology Letters - Category: Toxicology Authors: Tags: Toxicol Lett Source Type: research
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]
Source: European Journal of Pharmacology - Category: Drugs & Pharmacology Authors: Tags: Eur J Pharmacol Source Type: research
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