Severe First Trimester Recurrent Intrahepatic Cholestasis of Pregnancy: A Case Report and Literature Review.
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ABSTRACT:
SUBMITTER: Hubschmann AG
PROVIDER: S-EPMC4737626 | biostudies-other | 2016 Mar
REPOSITORIES: biostudies-other
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Project description:BackgroundIntrahepatic cholestasis of pregnancy (ICP) is a cholestasis condition caused by elevated levels of serum bile acids that mainly occurs in the third trimester of pregnancy. Maternal symptoms include pruritus; elevation of transaminases, biliary enzymes, and bilirubin levels; and abnormal liver function tests. Fetal symptoms include spontaneous preterm labor, fetal distress, and intrauterine death. It is more prevalent in the Caucasians and is rarely found in Asian countries, including Japan. The etiology of ICP has been reported as involving various factors such as, environmental factors, hormone balance, and genetic components. The genetic factors include single-nucleotide polymorphisms (SNPs) in the genes of canalicular transporters, including ABCB4 and ABCB11. It has also been reported that the combination of these SNPs induces severe cholestasis and liver dysfunction.Case presentationHere, we report for the first time a 24-year Japanese case of severe ICP diagnosed by typical symptoms, serum biochemical analysis, and treated with the administration of ursodeoxycholic acid which improved cholestasis and liver injury and prevented fetal death. The sequence analysis showed SNPs reported their association with ICP in the ABCB11 (rs2287622, V444A) and ABCB4 (rs1202283, N168N) loci.ConclusionThe risk of ICP has been reported to be population-specific, and it is rare in the Japanese population. Our case was successfully treated with ursodeoxycholic acid and the genetic sequence analysis has supported the diagnosis. Because genetic variation in ABCB4 and ABCB11 has also been reported in the Japanese population, we need to be aware of potential ICP cases in pregnant Japanese women although further studies are necessary.
| S-EPMC4175624 | biostudies-literature
Project description:Benign recurrent intrahepatic cholestasis (BRIC) is a rare disorder characterised by recurrent episodes of cholestatic jaundice. First described in 1959, BRIC has been reported in patients all over the world including of African descent. Here, we describe a case of a 21-year-old male with recurring episodes of cholestatic jaundice where we diagnosed BRIC and terminated an episode with rifampicin. To our knowledge, this is the first case report of BRIC diagnosed in Africa.
| S-EPMC7085836 | biostudies-literature
Project description:BACKGROUND:Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular transporters. Herein, we firstly provide the evidence that a nonsense variant of ATP8B1 gene (c.1558A>T) in heterozygous form is involved in BRIC pathogenesis. CASE SUMMARY:A 29-year-old male showed severe jaundice and laboratory tests consistent with intrahepatic cholestasis despite normal gamma-glutamyltranspeptidase. Acute and chronic liver diseases with viral, metabolic and autoimmune etiology were excluded. Normal intra/extra-hepatic bile ducts were demonstrated by magnetic resonance. Liver biopsy showed: Cholestasis in the centrilobular and intermediate zones with bile plugs and intra-hepatocyte pigment, Kupffer's cell activation/hyperplasia and preserved biliary ducts. Being satisfied benign recurrent intrahepatic cholestasis diagnostic criteria, ATP8B1 and ABCB11 gene analysis was performed. Surprisingly, we found a novel nonsense variant of ATP8B1 gene (c.1558A>T) in heterozygosis. The variant was confirmed by Sanger sequencing following a standard protocol and tested for familial segregation, showing a maternal inheritance. Immunohistochemistry confirmed a significant reduction of mutated gene related protein (familial intrahepatic cholestasis 1). The patient was treated with ursodeoxycholic acid 15 mg/kg per day and colestyramine 8 g daily with total bilirubin decrease and normalization at the 6th and 12th mo. CONCLUSION:A genetic abnormality, different from those already known, could be involved in familial intrahepatic cholestatic disorders and/or pro-cholestatic genetic predisposition, thus encouraging further mutation detection in this field.
| S-EPMC7061267 | biostudies-literature
Project description:The aim is to report a case of spontaneous uterine rupture in the first trimester of pregnancy and to review the literature on the topic. METHODS:A literature search was performed using PubMed and Scopus. Relevant English articles were identified without any time or study limitations. The data were aggregated, and a summary statistic was calculated. RESULTS:A 35-year-old gravida 5, para 2 was admitted at our department because of fainting and abdominal pain. The woman had a first-trimester twin pregnancy and a history of two previous cesarean sections (CSs). Suspecting a uterine rupture, an emergency laparotomy was performed. The two sacs were completely removed, and the uterine rupture site was closed with a double-layer suture. The patient was discharged from hospital four days later in good condition. On the basis of this experience, a total of 76 case reports were extracted from PubMed and included in the review. Fifty-three patients out of 76 (69.74%) underwent previous surgery on the uterus. Most women (67.92%) had a CS, and in this group a cesarean scar pregnancy (CSP) or a placenta accreta spectrum (PAS) disorder was found to be the etiology in 77.78% of cases. Furthermore, 35.85% of the women had hysterectomy after uterine rupture. Twenty-three patients out of 76 (30.26%) had an unscarred uterus. Of this group, most women presented a uterine anomaly (43.48%). Moreover, 17.39% of these women had a hysterectomy. CONCLUSION:According to the literature, the current pandemic use of CS explains most cases of first-trimester uterine rupture.
| S-EPMC7215710 | biostudies-literature
Project description:Benign recurrent intrahepatic cholestasis is a rare disorder characterized by recurrent episodes of cholestatic jaundice without liver damage. A mutation in the ABCB11 gene encoding bile salt export pump protein causes the disease. A 16-year-old boy with severe jaundice is presented here. His laboratory tests were consistent with intrahepatic cholestasis despite having normal gamma-glutamyl transpeptidase levels. Acute and chronic liver diseases with viral, metabolic, and autoimmune etiology were excluded. Magnetic resonance imaging revealed normal intra- and extrahepatic bile ducts. A liver biopsy showed cholestasis in the centrilobular and intermediate zones and sinusoidal dilatation. Genetic testing revealed a homozygous c.3083_3084delCAinsTG (Ala1028Val) mutation in the ABCB11 gene. The patient was treated with ursodeoxycholic acid 20 mg/kg/day and cholestyramine 4 g twice daily, and total bilirubin decreased to normal ranges after two months of therapy. This mutation (c.3083_3084delCAinsTG) in the ABCB11 gene is the first reported in a patient with benign recurrent intrahepatic cholestasis type 2.
| S-EPMC8114600 | biostudies-literature
Project description:UNLABELLED:Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disease, characterized by maternal pruritus and raised serum bile acids. Our objectives were to describe the epidemiology and pregnancy complications associated with severe ICP and to test the hypothesis that adverse perinatal outcomes are increased in these women. A prospective population-based case-control study with national coverage was undertaken using the UK Obstetric Surveillance System (UKOSS). Control data for comparison were obtained from women with healthy pregnancy outcome through UKOSS (n = 2,232), St Mary's Maternity Information System (n = 554,319), and Office for National Statistics (n = 668,195). The main outcome measures investigated were preterm delivery, stillbirth, and neonatal unit admission. In all, 713 confirmed cases of severe ICP were identified, giving an estimated incidence of 9.2 per 10,000 maternities. Women with severe ICP and a singleton pregnancy (n = 669) had increased risks of preterm delivery (164/664; 25% versus 144/2200; 6.5%; adjusted odds ratio [OR] 5.39, 95% confidence interval [CI] 4.17 to 6.98), neonatal unit admission (80/654; 12% versus 123/2192; 5.6%; adjusted OR 2.68, 95% CI 1.97 to 3.65), and stillbirth (10/664; 1.5% versus 11/2205; 0.5%; adjusted OR 2.58, 95% CI 1.03 to 6.49) compared to controls. Seven of 10 stillbirths in ICP cases were associated with coexisting pregnancy complications. These differences remained significant against national data. Risks of preterm delivery, meconium-stained amniotic fluid, and stillbirth rose with increasing maternal serum bile acid concentrations. CONCLUSION:In the largest prospective cohort study in severe ICP to date, we demonstrate significant increased risks of adverse perinatal outcomes, including stillbirth. Our findings support the case for close antenatal monitoring of pregnancies affected by severe ICP.
| S-EPMC4296226 | biostudies-literature
Project description:INTRODUCTION:Previous studies of fetal effects have suggested that intrahepatic cholestasis of pregnancy is associated with a higher rate of adverse neonatal outcomes including preterm birth, neonatal respiratory distress syndrome, meconium-stained amniotic fluid, neonatal intensive care unit admission, and stillbirth. The objective was to compare the neonatal and maternal consequences in pregnancies affected by intrahepatic cholestasis and normal pregnancies. MATERIAL AND METHODS:This case-control study compares pregnancies affected by intrahepatic cholestasis (pruritus and bile acid ≥ 10 μmol/L) with low-risk pregnancies managed between December 2006 and December 2014 at a French university hospital center. RESULTS:There were 83 (59.3%) cases of mild cholestasis (10≤ BA ≤39 μmol/L), 46 (32.8%) of moderate cholestasis (40≤ BA ≤99 μmol/L), and 11 (7.9%) of severe cholestasis (BA ≥100 μmol/L). No in utero fetal deaths occurred in the 140 women with cholestasis or the 560 controls analyzed. The rate of respiratory distress syndrome was higher in neonates of women with intrahepatic cholestasis (17.1% vs. 4.6%, P<0.001; crude OR 4.46 (CI95% 2.49-8.03)). This risk was also significant after adjustment for gestational age at birth and mode of delivery, adjusted OR 2.56 (CI95%1.26-5.18). The postpartum hemorrhage rate was twice as high among the case mothers (25% versus 14.1% for controls, P = 0.002). CONCLUSION:After adjustment on the confounding factors we found a higher rate of respiratory distress syndrome and neonatal morbidity among neonates of the cholestasis group.
| S-EPMC7029845 | biostudies-literature
Project description:Transcatheter mitral valve repair using the MitraClip (Abbott Vascular, Santa Clara, CA) is a reasonable option for the treatment of patients with severe symptomatic degenerative mitral regurgitation (MR) who are at prohibitive surgical risk. The occurrence of recurrent severe MR after initial successful MitraClip repair is uncommon. Data are sparse on the management of recurrent severe MR after initial successful repair using the MitraClip. We describe a successful case of redo MitraClip repair for late recurrent severe MR secondary to progressive degenerative mitral valve disease after a successful initial MitraClip procedure and review the literature.
| S-EPMC7242512 | biostudies-literature
Project description:PurposeIntrahepatic cholangiocarcinoma is the second most common primary liver cancer, and is associated with a poor prognosis and rising incidence rate.MethodsHere, we reported the case of a middle-aged Asian male who presented with a 9.5-cm liver lesion and was diagnosed with intrahepatic cholangiocarcinoma.ResultsThe patient experienced recurrence three times, twice following radical resection and standard adjuvant chemotherapy and once following camrelizumab plus apatinib, after which the tumor progressed with elevated CA 19.9 level. After tissue biopsy for next-generation sequencing, apatinib was replaced by lenvatinib, and the patient achieved disease control again, with a progression-free survival of 10 months.ConclusionCombined immunotherapy and targeted therapy regimens are a promising approach for refractory intrahepatic cholangiocarcinoma. Further well-designed prospective clinical trials are needed to confirm the efficacy and safety. Since intrahepatic cholangiocarcinoma is characterized by high heterogeneity and with complex crosstalk among oncogenic pathways, further exploration is required to more deeply understand the mechanism of action of this treatment approach and guide individualized treatment selection.
| S-EPMC9436883 | biostudies-literature
Project description:LncRNA plays a crucial role in human disease. However, the expression and function of LncRNA in ICP(Intrahepatic cholestasis of pregnancy) is still not fully elucidated. In this study, we found Linc02527 was increased expression in placenta and serum of ICP patients. Ectopically expression of Linc02527 promoted autophagy and proliferate in HTR8 cells. Silencing Linc02527 suppressed the autophagy and proliferate in HTR8 cells. Mechanically study revealed that Linc02527 regulated the expression of ATG5 and ATG7 by sponging miR-3185. Linc02527 directly binding to YBX1 and activated P21. The growth of C57 mouse was retarded when autophagy was activated. In normal condition, inhibited autophagy using chloroquine did not affect the growth of C57 mouse. However, in the condition of autophagy was activated, inhibited autophagy using chloroquine can improve the growth of C57 mouse. Overall, the results of this study identified Linc02527 as a candidate biomarker in ICP and a potential target for ICP therapy. Chloroquine was a potential drug for ICP therapy.
| S-EPMC6155230 | biostudies-literature