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Inherited liver disease

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https://www.readbyqxmd.com/read/29147139/insights-into-the-management-of-wilson-s-disease
#1
REVIEW
Mohmadshakil Kathawala, Gideon M Hirschfield
Wilson's disease is a rare, inherited autosomal recessive disease of copper metabolism, in which the causative gene, ATP7B, results in absent or reduced function of the ATP7B transporter important for biliary excretion of copper and incorporation of copper into caeruloplasmin. Affected patients accumulate excessive copper within the liver, brain and other tissues. A disease mainly of children, adolescents and young adults; clinical features vary from the asymptomatic state to chronic liver disease, acute liver failure, and neuropsychiatric manifestations...
November 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/29145655/paternal-exposure-to-environmental-chemical-stress-affectsmale-offspring-s-hepatic-mitochondria
#2
Roger Godschalk, Alex Remels, Camiel Hoogendoorn, Jan van Benthem, Mirjam Luijten, Nur Duale, Gunnar Brunborg, Ann-Karin Olsen, Freek G Bouwman, Armelle Munnia, Marco Peluso, Edwin Mariman, Frederik Jan van Schooten
Pre-conceptional paternal exposures may affect offspring's health, which cannot be explained by mutations in germ cells, but by persistent changes in the regulation of gene expression. Therefore, we investigated whether pre-conceptional paternal exposure to benzo[a]pyrene (B[a]P) could alter the offspring's phenotype. Male C57BL/6 mice were exposed to B[a]P by gavage for 6 weeks, 3x per week, and were crossed with unexposed BALB-c females 6 weeks after the final exposure. The offspring was kept under normal feeding conditions and was sacrificed at 3 weeks of age...
November 14, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/29137068/carnitine-acylcarnitine-translocase-deficiency-with-c-199-10-t-g-and-novel-c-1a-g-mutation-two-case-reports-and-brief-literature-review
#3
Hui-Ming Yan, Hao Hu, Aisha Ahmed, Bing-Bing Feng, Jing Liu, Zheng-Jun Jia, Hua Wang
RATIONALE: Carnitine-acylcarnitine translocate deficiency (CACTD) is a rare and life-threatening, autosomal recessive disorder of fatty acid β-oxidation characterized by hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy, liver dysfunction, and muscle weakness; culminating in early death. To date, CACTD cases screened from the Chinese mainland population, especially patient with compound heterozygote with c.199-10T>G and a novel c.1A>G mutation in the SLC25A20 gene has never been described...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29128761/inborn-errors-of-immunity-underlying-fungal-diseases-in-otherwise-healthy-individuals
#4
REVIEW
Juan Li, Donald C Vinh, Jean-Laurent Casanova, Anne Puel
It has been estimated that there are at least 1.5 million fungal species, mostly present in the environment, but only a few of these fungi cause human disease. Most fungal diseases are self-healing and benign, but some are chronic or life-threatening. Acquired and inherited defects of immunity, including breaches of mucocutaneous barriers and circulating leukocyte deficiencies, account for most severe modern-day mycoses. Other types of infection typically accompany these fungal infections. More rarely, severe fungal diseases can strike otherwise healthy individuals...
November 9, 2017: Current Opinion in Microbiology
https://www.readbyqxmd.com/read/29128060/risk-factors-for-the-development-of-nonalcoholic-fatty-liver-disease-nonalcoholic-steatohepatitis-including-genetics
#5
REVIEW
Huei-Wen Lim, David E Bernstein
Nonalcoholic fatty liver disease is emerging as the most common cause of chronic liver disease worldwide. This trend is, in part, secondary, to the growing incidence of obesity, type 2 diabetes, and metabolic syndrome. Other risk factors include age, gender, race/ethnicity, genetic predisposition, and polycystic ovarian disease. With the introduction of genome-wide association studies, genetic mutations contributing to inherited susceptibility to steatosis have been identified, which hold keys to future improvement in diagnosis and management...
February 2018: Clinics in Liver Disease
https://www.readbyqxmd.com/read/29116687/erythropoietic-protoporphyria-in-an-adult-with-sequential-liver-and-hematopoietic-stem-cell-transplantation-a-case-report
#6
Annika L Windon, Rashmi Tondon, Nathan Singh, Samir Abu-Gazala, David L Porter, J Eric Russell, Colleen Cook, Elaine Lander, Georgeine Smith, Kim M Olthoff, Abraham Shaked, Maarouf Hoteit, Emma E Furth, Marina Serper
Erythropoieitic protoporphyria (EPP) is a rare inherited disorder of the heme biosynthesis pathway resulting in the accumulation of protoporphyrins in the blood, erythrocytes, and other tissues. Because of a gene mutation in the FECH gene, ferrochelatase, the enzyme involved in the final step of heme synthesis, is deficient in these patients. While the major symptom of this disorder is photosensitivity, rarely, it can cause progressive liver disease requiring liver transplantation (LT). However, LT is not curative and only bone marrow transplantation (BMT) can correct the underlying enzymatic defect...
November 8, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/29112083/characteristics-of-liver-disease-in-100-individuals-with-joubert-syndrome-prospectively-evaluated-at-a-single-center
#7
Anna Strongin, Theo Heller, Dan Doherty, Ian A Glass, Melissa A Parisi, Joy Bryant, Peter Choyke, Baris Turkbey, Kailash Daryanani, Deniz Yildirimli, Meghana Vemulapalli, Jim C Mullikin, May C Malicdan, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun
BACKGROUND & AIMS: Joubert Syndrome (JS) is a rare, inherited, ciliopathy defined by cerebellar and brainstem malformations and is variably associated with liver, kidney, and ocular dysfunction. This study characterizes the hepatic findings in JS and identifies factors associated with probable portal hypertension. METHODS: 100 individuals with JS were prospectively evaluated at the National Institutes of Health Clinical Center. Laboratory tests, imaging, and DNA sequencing were performed...
November 3, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29106285/liver-kidney-simultaneous-transplantation-in-adult-patients-with-primary-hyperoxaluria-experience-at-hospital-universitario-12-de-octubre
#8
Javier Martínez Caballero, Alberto Marcacuzco Quinto, Iago Justo Alonso, Oana Anisa Nutu, Alejandro Manrique Municio, Jorge Calvo Pulido, Félix Cambra Molero, Óscar Caso Maestro, Carlos Jiménez Romero
Primary hyperoxaluria (PH) is a metabolic liver disease with an autosomal recessive inheritance that results in oxalate overproduction that cannot be metabolized by the liver. Urinary excretion of oxalate results in lithiasis and nephrocalcinosis leading to a progressive loss of renal function that often requires renal replacement therapy despite medical treatment. Type 1 PH is the most common form and is due to a deficiency in the alanine-glycolate aminotransferase enzyme found in hepatic peroxisomes. Therefore, a liver-kidney simultaneous transplant (LKST) is the definitive treatment for end-stage renal disease (ESRD) patients...
November 6, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/29104077/assessment-of-atp8b1-deficiency-in-pediatric-patients-with-cholestasis-using-peripheral-blood-monocyte-derived-macrophages
#9
Hisamitsu Hayashi, Sotaro Naoi, Takao Togawa, Yu Hirose, Hiroki Kondou, Yasuhiro Hasegawa, Daiki Abukawa, Mika Sasaki, Koji Muroya, Satoshi Watanabe, Satoshi Nakano, Kei Minowa, Ayano Inui, Akinari Fukuda, Mureo Kasahara, Hironori Nagasaka, Kazuhiko Bessho, Mitsuyoshi Suzuki, Hiroyuki Kusuhara
Progressive familial intrahepatic cholestasis type 1 (PFIC1), a rare inherited recessive disease resulting from a genetic deficiency in ATP8B1, progresses to liver failure. Because of the difficulty of discriminating PFIC1 from other subtypes of PFIC based on its clinical and histological features and genome sequencing, an alternative method for diagnosing PFIC1 is desirable. Herein, we analyzed human peripheral blood monocyte-derived macrophages (HMDM) and found predominant expression of ATP8B1 in interleukin-10 (IL-10)-induced M2c, a subset of alternatively activated macrophages...
October 7, 2017: EBioMedicine
https://www.readbyqxmd.com/read/29093628/evidence-from-a-familial-case-suggests-maternal-inheritance-of-primary-biliary-cholangitis
#10
Saeam Shin, In Ho Moh, Young Sik Woo, Sung Won Jung, Jin Bae Kim, Ji Won Park, Ki Tae Suk, Hyoung Su Kim, Mineui Hong, Sang Hoon Park, Myung Seok Lee
Primary biliary cholangitis (PBC) is an idiopathic autoimmune liver disease characterized by chronic cholestasis and destruction of the intrahepatic bile ducts. Similar to other autoimmune diseases, the pathogenesis of PBC is considered to be a complex etiologic phenomenon involving the interaction of genetic and environmental factors. Although a number of common variants associated with PBC have been reported from genome-wide association studies, a precise genetic mechanism underlying PBC has yet to be identified...
October 21, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29071511/folding-defects-leading-to-primary-hyperoxaluria
#11
Elisa Oppici, Mirco Dindo, Carolina Conter, Carla Borri Voltattorni, Barbara Cellini
Protein misfolding is becoming one of the main mechanisms underlying inherited enzymatic deficits. This review is focused on primary hyperoxalurias, a group of disorders of glyoxylate detoxification associated with massive calcium oxalate deposition mainly in the kidneys. The most common and severe form, primary hyperoxaluria Type I, is due to the deficit of liver peroxisomal alanine/glyoxylate aminotransferase (AGT). Various studies performed in the last decade clearly evidence that many pathogenic missense mutations prevent the AGT correct folding, leading to various downstream effects including aggregation, increased degradation or mistargeting to mitochondria...
October 26, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/29068997/atypical-hemolytic-uremic-syndrome-induced-by-cblc-subtype-of-methylmalonic-academia-a-case-report-and-literature-review
#12
REVIEW
Minguang Chen, Jieqiu Zhuang, JianHuan Yang, Dexuan Wang, Qing Yang
RATIONALE: Methylmalonic acidemia (MMA) is a common organic acidemia, mainly due to methylmalonyl-CoA mutase (MCM) or its coenzyme cobalamin (VitB12) metabolic disorders. Cobalamin C (CblC) type is the most frequent inborn error of cobalamin metabolism; it can develop symptoms in childhood and often combine multisystem damage, which leads to methylmalonic acid, propionic acid, methyl citrate, and other metabolites abnormal accumulation, causing nerve, liver, kidney, bone marrow, and other organ damage...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29061983/interplay-of-cis-and-trans-mechanisms-driving-transcription-factor-binding-and-gene-expression-evolution
#13
Emily S Wong, Bianca M Schmitt, Anastasiya Kazachenka, David Thybert, Aisling Redmond, Frances Connor, Tim F Rayner, Christine Feig, Anne C Ferguson-Smith, John C Marioni, Duncan T Odom, Paul Flicek
Noncoding regulatory variants play a central role in the genetics of human diseases and in evolution. Here we measure allele-specific transcription factor binding occupancy of three liver-specific transcription factors between crosses of two inbred mouse strains to elucidate the regulatory mechanisms underlying transcription factor binding variations in mammals. Our results highlight the pre-eminence of cis-acting variants on transcription factor occupancy divergence. Transcription factor binding differences linked to cis-acting variants generally exhibit additive inheritance, while those linked to trans-acting variants are most often dominantly inherited...
October 23, 2017: Nature Communications
https://www.readbyqxmd.com/read/29056000/-the-progress-of-studying-the-mechanisms-of-immune-cells-in-the-regulation-of-non-alcoholic-fatty-liver-diseases
#14
Y Bao
Non-alcoholic fatty liver diseases (NAFLD) are liver diseases which are strongly associated with obesity. The incidence of NAFLD has been gradually increased in recent years. According to different pathology of the liver, NAFLD include three disease states: simple fatty liver, hepatitis (nonalcoholic steatohepatitis, NASH) and fatty liver cirrhosis. The accumulations of fat around the internal organs, which secrete a wide range of adipokines, such as interleukin-6, contribute the development and progress of NAFLD in obesity...
July 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/29046209/-paroxysmal-muscle-weakness-liver-enlargement-and-hypoglycemia-in-a-boy
#15
Ya-Jie Cui, Chun-Lan Song, Yi-Bing Cheng
A boy aged 11 years was admitted due to intermittent weakness and difficulty in walking for 6 years, and hepatomegaly, glycopenia and unconsciousness for 4 years. The laboratory examinations showed severe metabolic acidosis, hypoglycemia, and abnormal liver function. CT scan showed marked liver enlargement with fat density shadow. The boy was given fluid infusion, correction of acidosis, intravenous injection of glucose, L-carnitine, compound vitamin B, and coenzyme Q10, but he was in a persistent coma and it was difficult to correct refractory metabolic acidosis and hypoglycemia...
October 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29038287/genetic-complexity-of-autosomal-dominant-polycystic-kidney-and-liver-diseases
#16
Emilie Cornec-Le Gall, Vicente E Torres, Peter C Harris
Data indicate significant phenotypic and genotypic overlap, plus a common pathogenesis, between two groups of inherited disorders, autosomal dominant polycystic kidney diseases (ADPKD), a significant cause of ESRD, and autosomal dominant polycystic liver diseases (ADPLD), which result in significant PLD with minimal PKD. Eight genes have been associated with ADPKD (PKD1 and PKD2), ADPLD (PRKCSH, SEC63, LRP5, ALG8, and SEC61B), or both (GANAB). Although genetics is only infrequently used for diagnosing these diseases and prognosing the associated outcomes, its value is beginning to be appreciated, and the genomics revolution promises more reliable and less expensive molecular diagnostic tools for these diseases...
October 16, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28965603/investigating-the-influence-of-standard-staining-procedures-on-the-copper-distribution-and-concentration-in-wilson-s-disease-liver-samples-by-laser-ablation-inductively-coupled-plasma-mass-spectrometry
#17
Oliver Hachmöller, Michaela Aichler, Kristina Schwamborn, Lisa Lutz, Martin Werner, Michael Sperling, Axel Walch, Uwe Karst
The influence of rhodanine and haematoxylin and eosin (HE) staining on the copper distribution and concentration in liver needle biopsy samples originating from patients with Wilson's disease (WD), a rare autosomal recessive inherited disorder of the copper metabolism, is investigated. In contemporary diagnostic of WD, rhodanine staining is used for histopathology, since rhodanine and copper are forming a red to orange-red complex, which can be recognized in the liver tissue using a microscope. In this paper, a laser ablation-inductively coupled plasma-mass spectrometry (LA-ICP-MS) method is applied for the analysis of eight different WD liver samples...
December 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/28964917/redox-imbalance-due-to-the-loss-of-mitochondrial-nad-p-transhydrogenase-markedly-aggravates-high-fat-diet-induced-fatty-liver-disease-in-mice
#18
Claudia D C Navarro, Tiago R Figueira, Annelise Francisco, Genoefa A Dal'Bó, Juliana A Ronchi, Juliana C Rovani, Cecilia A F Escanhoela, Helena C F Oliveira, Roger F Castilho, Anibal E Vercesi
The mechanisms by which a high fat diet (HFD) promotes non-alcoholic fatty liver disease (NAFLD) appear to involve liver mitochondrial dysfunctions and redox imbalance. We hypothesized that a HFD would increase mitochondrial reliance on NAD(P)-transhydrogenase (NNT) as the source of NADPH for antioxidant systems that counteract NAFLD development. Therefore, we studied HFD-induced liver mitochondrial dysfunctions and NAFLD in C57Unib.B6 congenic mice with (Nnt(+/+)) or without (Nnt(-/-)) NNT activity; the spontaneously mutated allele (Nnt(-/-)) was inherited from the C57BL/6J mouse substrain...
September 28, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28952920/afibrinogenemia-acquired-by-liver-transplant
#19
Soheila Milani, Mohsen Aliakbarian, Sakineh Amouian
Liver transplant is a life-saving procedure in patients with end-stage liver disease. However, this procedure may be associated with transmission of various deficiencies of proteins synthesized by the liver. Factor I (fibrinogen) deficiency is one of the rare inherited coagulation disorders with an extremely low risk of transmission by liver transplant. We report a case of a patient with no inherited coagulation disorders but who demonstrated disturbance of fibrinogen after liver transplant. This case highlights the ever-present risk of donor-to-recipient disease transmission during transplant and emphasizes the difficulty in procuring organs from donors in which standard blood tests are insufficient to determine the likelihood of this event...
September 26, 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28944580/biallelic-mutations-in-gpd1-gene-in-a-chinese-boy-mainly-presented-with-obesity-insulin-resistance-fatty-liver-and-short-stature
#20
Niu Li, Guoying Chang, Yufei Xu, Yu Ding, Guoqiang Li, Tingting Yu, Ruen Yao, Juan Li, Yiping Shen, Xiumin Wang, Jian Wang
Biallelic mutations in the GPD1 gene cause a rare autosomal recessive inherited disease known as transient infantile hypertriglyceridemia (OMIM #614480). To date, only five pathogenic variants have been reported in 15 patients from three studies. The clinical symptoms of the affected individuals present a certain degree of heterogeneity. Here, we describe a chinese adolescent patient who mainly presented with obesity, insulin resistance, fatty liver, and short stature. Targeted next-generation sequencing revealed a novel compound heterozygous variant in GPD1 gene (c...
December 2017: American Journal of Medical Genetics. Part A
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