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Inherited liver disease

José A Del Campo, Rocío Gallego-Durán, Paloma Gallego, Lourdes Grande
Genetics and epigenetics play a key role in the development of several diseases, including nonalcoholic fatty liver disease (NAFLD). Family studies demonstrate that first degree relatives of patients with NAFLD are at a much higher risk of the disease than the general population. The development of the Genome Wide Association Study (GWAS) technology has allowed the identification of numerous genetic polymorphisms involved in the evolution of diseases (e.g., PNPLA3 , MBOAT7 ). On the other hand, epigenetic changes interact with inherited risk factors to determine an individual's susceptibility to NAFLD...
March 19, 2018: International Journal of Molecular Sciences
B M Kamath, A Baker, R Houwen, L Todorova, N Kerkar
BACKGROUND: Alagille syndrome (ALGS) is an inherited multisystem disorder typically manifesting as cholestasis, and potentially leading to end-stage liver disease and death. AIM: To perform the first systematic review of the epidemiology, natural history and burden of ALGS with a focus on the liver component. METHODS: Electronic databases and proceedings from key congresses were searched in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2009 guidelines...
March 14, 2018: Journal of Pediatric Gastroenterology and Nutrition
Ruhsen Öcal, Serkan Öcal, Mahir Kırnap, Gökhan Moray, Mehmet Haberal
OBJECTIVES: Wilson disease is an autosomal, recessive, inherited disorder of copper metabolism that results in the accumulation of copper in many organs and tissues. This disease is mainly characterized by dysfunction due to copper accumulation in the liver, kidney, brain, cornea, bone, heart, and blood cells. The clinical spectrum is broad in Wilson disease. Asymptomatic Wilson disease may be present, but findings related to the involvement of an individual organ or multiple organ failure can be seen...
March 2018: Experimental and Clinical Transplantation
T Fujimaru, T Mori, A Sekine, S Mandai, M Chiga, H Kikuchi, F Ando, Y Mori, N Nomura, S Iimori, S Naito, T Okado, T Rai, J Hoshino, Y Ubara, S Uchida, E Sohara
Distinguishing autosomal dominant polycystic kidney disease (ADPKD) from other inherited renal cystic diseases in patients with adult polycystic kidney disease and no family history is critical for correct treatment and appropriate genetic counseling. However, for patients with no family history, there are no definitive imaging findings that provide an unequivocal ADPKD diagnosis. We analyzed 53 adult polycystic kidney disease patients with no family history. Comprehensive genetic testing was performed using capture-based next-generation sequencing for 69 genes currently known to cause hereditary renal cystic diseases including ADPKD...
March 9, 2018: Clinical Genetics
Annu Aggarwal, Mohit Bhatt
Background: Wilson disease (WD) is an inherited neurometabolic disorder that results in excessive copper deposition in the liver and the brain, affecting children and young adults. Without treatment the disease is invariably fatal. Though treatments for WD have been available since the 1950s, the disease continues to be associated with considerable morbidity and mortality because of missed diagnosis, and delayed or inadequate treatment. In this paper we survey WD-related literature in order to review recent advances in WD treatment...
2018: Tremor and Other Hyperkinetic Movements
Hadrien Tranchart, Martin Gaillard, Papa Saloum Diop, Sylvie Goulinet, Panagiotis Lainas, Ibrahim Dagher
BACKGROUND: Hepatocyte transplantation is a potentially less invasive alternative to liver transplantation for treating inherited metabolic liver diseases. We developed an autotransplantation protocol of ex vivo genetically modified hepatocytes combining lentiviral transduction and transplantation after liver preconditioning by partial portal vein embolization. We investigated the metabolic efficiency of this approach in Watanabe rabbits, animal model of familial hypercholesterolemia...
April 2018: Journal of Surgical Research
Syeda Sara Batool Hamdani, Huma Arshad Cheema, Anjum Saeed, Hassan Suleman Malik, Tayaba Sehar
BACKGROUND: Wilson disease (WD) is one of the most common metabolic liver diseases in older children. It has a strong genetic background with autosomal recessive inheritance. WD is a multisystem disorder with predominant hepatic and neurological manifestations and variable age of presentation. The data on cardiac manifestations in children is very limited and only few adult studies are available in the literature. This study was planned to determine the frequency and spectrum of Electrocardiographic (ECG) changes in pediatric WD...
January 2018: Journal of Ayub Medical College, Abbottabad: JAMC
Caroline Schmitt, Hugo Lenglet, Angèle Yu, Constance Delaby, Arndt Benecke, Thibaud Lefebvre, Philippe Letteron, Valérie Paradis, Staffan Wahlin, Sverre Sandberg, Pauline Harper, Eliane Sardh, Arne Kristian Sandvik, Johannes R Hov, Aasne Karine Aarsand, Laurence Chiche, Céline Bazille, Jean-Yves Scoazec, Jordi To Figueras, Montserrat Carrascal, Joaquim Abian, Arienne Mirmiran, Zoubida Karim, Jean-Charles Deybach, Hervé Puy, Katell Peoc'h, Hana Manceau, Laurent Gouya
BACKGROUND: Acute intermittent porphyria (AIP) is an inherited disorder of heme metabolism characterized by life-threatening acute neurovisceral attacks due to the induction of hepatic δ-aminolevulinic acid synthase 1 (ALAS1) associated with hydroxymethylbilane synthase (HMBS) deficiency. So far, the treatment of choice is hemin which represses ALAS1. The main issue in the medical care of AIP patients is the occurrence of debilitating recurrent attacks. OBJECTIVE: The aim of this study was to determine whether chronic hemin administration contributes to the recurrence of acute attacks...
March 2, 2018: Journal of Internal Medicine
Ting-Ting He, Jia-Bo Wang, Zhao-Fang Bai, Yu-Ming Guo, Ming Niu, Yun Zhu, Jing Jing, Man Gong, Xiao-He Xiao
In recent years, the issues related to herb-induced liver injury (HILI) have received much concern. Its clinical diagnosis is much difficult than that of Western medicine-induced liver injury due to its complicated drug combination and multiple constituents. Moreover, it is also correlated with physiques, inheritance and basic diseases. China Association of Chinese Medicine has released the first standards for HILI diagnosis and treatment technology in 2016, namely Guidelines for clinical diagnosis of herb-induced liver injury (hereinafter referred to as the Guidelines)...
December 2017: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
Marcin Krawczyk, Heike Bantel, Monika Rau, Jörn M Schattenberg, Frank Grünhage, Anita Pathil, Münevver Demir, Johannes Kluwe, Tobias Boettler, Susanne N Weber, Andreas Geier, Frank Lammert
Non-alcoholic fatty liver disease (NAFLD) is frequent among obese individuals with metabolic syndrome. Variants PNPLA3 p.I148M, TM6SF2 p.E167K and MBOAT7 rs641738 are associated with higher liver fat contents. Here we analyzed 63 biopsied non-obese, non-diabetic patients with NAFLD (39 men, age: 20-72 years) recruited within the German NAFLD CSG program. The frequencies of the PNPLA3, TM6SF2 and MBOAT7 polymorphisms were compared with the remaining patients in the NAFLD CSG cohort and with a control population (n = 174)...
February 26, 2018: Journal of Human Genetics
Mikako Warren, Gary Mierau, Eric P Wartchow, Hiroyuki Shimada, Shoji Yano
Zellweger spectrum disorders (ZSD) are rare autosomal recessive inherited metabolic disorders and include severe (Zellweger syndrome) and milder phenotypes [neonatal adrenoleukodystrophy and infantile Refsum disease (IRD)]. ZSD are characterized by impaired peroxisomal functions and lack of peroxisomes detected by electron microscopy (EM). ZSD are caused by mutations in any of the 14 PEX genes. Patients with ZSD commonly demonstrate nonspecific hepatic symptoms within the first year, often without clinical suspicion of ZSD...
February 26, 2018: Ultrastructural Pathology
Silvina Fernanda Ruspini, Johanna Romina Zuccoli, Jimena Verónica Lavandera, Marìa Del Carmen Martínez, Leda María Olivieri, Esther Noemí Gerez, Alcira María Del Carmen Batlle, Ana María Buzaleh
BACKGROUND: Acute intermittent porphyria (AIP) is an inherited disease produced by a deficiency of Porphobilinogen deaminase (PBGD). The aim of this work was to evaluate the effects of Isoflurane and Sevoflurane on heme metabolism in a mouse genetic model of AIP to further support our previous proposal for avoiding their use in porphyric patients. A comparative study was performed administering the porphyrinogenic drugs allylisopropylacetamide (AIA), barbital and ethanol, and also between sex and mutation using AIP (PBG-D activity 70% reduced) and T1 (PBG-D activity 50% diminished) mice...
February 21, 2018: Biochimica et Biophysica Acta
Robert Hegarty, Maesha Deheragoda, Emer Fitzpatrick, Anil Dhawan
The recognition of a pattern of steatotic liver injury where histology mimicked alcoholic liver disease but alcohol consumption was denied, led to the identification of non-alcoholic fatty liver disease (NAFLD). Non-alcoholic fatty liver disease has since become the most common chronic liver disease in adults owing to the global epidemic of obesity. However, in pediatrics, the term NAFLD seems incongruous: alcohol consumption is largely not a factor and inherited metabolic disorders (IMD) can mimic or co-exist with a diagnosis of NAFLD...
February 19, 2018: Journal of Hepatology
A Perciaccante, P Charlier, C Negri, A Coralli, O Appenzeller, R Bianucci
A1AT deficiency- a genetically inherited autosomal codominant disease with more than 120 identified alleles- was first identified by Laurell and Eriksson in 1963. The most common hereditary disorder in adults, A1AT causes an increased risk of developing pulmonary emphysema and liver disease. In A1AT patients, lung disease generally presents at a younger age than "usual" chronic obstructive pulmonary disease (COPD) and it may be misdiagnosed as asthma. Because A1AT deficiency patients can show the same clinical features as non-deficient COPD (including increased evidence of bronchiectasis, frequent exacerbations, impaired health status and a degree of reversibility of airflow obstruction), the World Health Organization recommend to test every patient with a diagnosis of COPD or adult-onset asthma for A1AT deficiency...
February 2018: COPD
Xiaotang Cai, Dan Yu, Yongmei Xie, Hui Zhou
RATIONALE: Argininemia is an autosomal recessive inherited disorder of the urea cycle. Because of its atypical symptoms in early age, diagnosis can be delayed until the typical chronic manifestations - including spastic diplegia, deterioration in cognitive function, and epilepsy - appear in later childhood. PATIENT CONCERNS: A Chinese boy initially presented with severe stunting and partial growth hormone deficiency (PGHD) at 3 years old and was initially treated with growth hormone replacement therapy...
February 2018: Medicine (Baltimore)
Mary G Prieve, Pierrot Harvie, Sean D Monahan, Debashish Roy, Allen G Li, Teri L Blevins, Amber E Paschal, Matt Waldheim, Eric C Bell, Anna Galperin, Jean-Rene Ella-Menye, Michael E Houston
We describe a novel, two-nanoparticle mRNA delivery system and show that it is highly effective as a means of intracellular enzyme replacement therapy (i-ERT) using a murine model of ornithine transcarbamylase deficiency (OTCD). Our Hybrid mRNA Technology delivery system (HMT) comprises an inert lipid nanoparticle that protects the mRNA from nucleases in the blood as it distributes to the liver and a polymer micelle that targets hepatocytes and triggers endosomal release of mRNA. This results in high-level synthesis of the desired protein specifically in the liver...
January 4, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
Daniel S Roseman, Tayeba Khan, Fabienne Rajas, Lucy S Jun, Kirtika H Asrani, Cleo Isaacs, Jeremiah D Farelli, Romesh R Subramanian
Glycogen storage disease type Ia (GSD1a) is an inherited metabolic disorder caused by the deficiency of glucose-6-phosphatase (G6Pase). GSD1a is associated with life-threatening hypoglycemia and long-term liver and renal complications. We examined the efficacy of mRNA-encoding human G6Pase in a liver-specific G6Pase -/- mouse model (L-G6PC -/- ) that exhibits the same hepatic biomarkers associated with GSD1a patients, such as fasting hypoglycemia, and elevated levels of hepatic glucose-6-phosphate (G6P), glycogen, and triglycerides...
January 31, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
E Mornet
Hypophosphatasia (HPP) is a rare inherited disorder primarily affecting bone and dental mineralization. Although there is a continuum in the severity of the disease, clinical forms may be arbitrarily distinguished on the basis of age at onset and the presence or absence of bone symptoms: perinatal, infantile, juvenile, adult, prenatal benign, and odontological. Severe forms (perinatal and infantile) are autosomally recessively inherited while less severe forms may be autosomally recessively or dominantly inherited...
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Lingling Zhu, Limei Xie
INTRODUCTION: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and related disorders (JSRD). Molecular genetics research contributes to disease prediction and genetic counseling...
December 2017: Medicine (Baltimore)
Lesley J Scott
Oral once-daily, fixed-dose, ledipasvir/sofosbuvir (Harvoni® ) [± ribavirin] is approved in several countries for the treatment of chronic hepatitis C (CHC) in adults and adolescents aged 12 to < 18 years, with direct-acting antiviral (DAA) regimens resulting in a paradigm shift in the treatment of the disease. In the clinical trial and/or clinical practice setting, ledipasvir/sofosbuvir (± ribavirin) was associated with high sustained virological response rates 12 weeks post-treatment (SVR12) in treatment-naive and -experienced adults and adolescents with chronic hepatitis C virus (HCV) genotype (GT) 1 infection, including in those with compensated cirrhosis or who were co-infected with HIV...
February 2018: Drugs
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