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Metabolic liver disease children

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https://www.readbyqxmd.com/read/28411097/-acute-liver-failure-related-to-inherited-metabolic-diseases-in-young-children
#1
Filipa Dias Costa, Rita Moinho, Sandra Ferreira, Paula Garcia, Luísa Diogo, Isabel Gonçalves, Carla Pinto
INTRODUCTION: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving. OBJECTIVE: To describe clinical presentation, investigation and outcomes of ALF related to IMD in young children. MATERIAL AND METHODS: Retrospective review of the medical records of children aged up to 24 months, admitted to a tertiary pediatric and neonatal Intensive Care Unit during a 27-year period, fulfilling the ALF criteria, with documented metabolic etiology...
April 11, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28395968/-aetiology-outcomes-and-prognostic-indicators-of-paediatric-acute-liver-failure
#2
Juan José Gilbert Pérez, Belén Jordano Moreno, Mónica Rodríguez Salas
INTRODUCTION: Acute liver failure (ALF) is a multisystem disease with severe impairment of liver function of acute onset. The Paediatric End-stage Liver Disease (PELD) score is used as a predictor of mortality in chronic liver disease, however experience is limited in ALF. OBJECTIVES: To evaluate the aetiology and outcomes of children with ALF in a Children's Liver Transplant Centre, and to investigate the validity of PELD as a prognostic indicator. PATIENTS AND METHODS: A retrospective study was conducted on patients diagnosed with ALF in our hospital from 2000 to 2013 using the criteria of the Paediatric ALF Study Group...
April 7, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28391883/childhood-adult-onset-lysosomal-acid-lipase-deficiency-a-serious-metabolic-and-vascular-phenotype-beyond-liver-disease-four-new-pediatric-cases
#3
Pierre Poinsot, Sophie Collardeau Frachon, Lioara Restier, André Sérusclat, Mathilde Di Filippo, Sybil Charrière, Philippe Moulin, Alain Lachaux, Noel Peretti
BACKGROUND: The childhood/adult-onset lysosomal acid lipase deficiency (LALD; late-onset LALD) is a rare genetic disease. Children present severe fatty liver disease with early cirrhosis. Before enzyme replacement therapy, statins were the standard treatment to improve the severe dyslipidemia. However, late-onset LALD should be considered as a systemic metabolic disease: chronic hyper-low-density lipoprotein and hypo-high-density lipoprotein cholesterolemia induces early atherosclerosis in addition to the liver morbidity...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28374256/analysis-of-magnetic-resonance-imaging-findings-of-children-with-neurologic-complications-after-liver-transplantation
#4
Mehmet Öztürk, İsmail Akdulum, Nurullah Dağ, Ahmet Sığırcı, Serdal Güngör, Sezai Yılmaz
OBJECTIVE: To analyze the magnetic resonance imaging findings in children diagnosed with neurologic complications after liver transplantation (LT). MATERIALS AND METHODS: A total of 39 patients diagnosed with neurologic complications following LT between 2010 and 2016. Neuroradiologic imaging was performed using cranial magnetic resonance imaging (MRI). Descriptive statistics regarding age, gender, type of complication, diagnostic and therapeutic modalities were calculated and presented as number and percentage...
April 3, 2017: La Radiologia Medica
https://www.readbyqxmd.com/read/28364818/liver-transplantation-in-alpha-1-antitrypsin-deficiency
#5
REVIEW
Virginia C Clark
Alpha-1 antitrypsin (AAT) deficiency is a common inherited metabolic disorder caused by a point mutation in the SERPIN1A gene. A small portion of homozygous PI*ZZ individuals develop severe liver disease that requires liver transplantation. Posttransplant survival is excellent. The largest burden of advanced liver disease lies within the adult population rather than children. Evaluation of lung function in adults before transplant is essential because of the underlying risk for chronic obstructive pulmonary disease...
May 2017: Clinics in Liver Disease
https://www.readbyqxmd.com/read/28359257/plasma-urotensin-ii-levels-in-children-and-adolescents-with-chronic-kidney-disease-a-single-centre-study
#6
Anastasia Garoufi, Styliani Drapanioti, Antonios Marmarinos, Varvara Askiti, Andromachi J Mitsioni, Maria Mila, Georgia Grigoriadou, Dimitrios Georgakopoulos, Constantinos J Stefanidis, Dimitrios Gourgiotis
BACKGROUND: Increased plasma Urotensin II (UII) levels have been found in adults with renal diseases. Studies in children are scarce. The objective of the study is to estimate plasma UII levels in subjects with chronic kidney disease (CKD) stages 3 to 5 and renal transplant recipients (RTR). In addition, the correlation of UII with anthropometric features and biochemical parameters was assessed. METHODS: Fifty-four subjects, aged 3 to 20 years old, 23 with CKD, 13 with end-stage kidney disease (ESKD) undergoing hemodialysis (HD) and 18 RTR were enrolled...
March 31, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28348471/role-of-allopurinol-in-optimizing-thiopurine-therapy-in-patients-with-autoimmune-hepatitis-a-review
#7
REVIEW
Shivani Deswal, Anshu Srivastava
Autoimmune hepatitis (AIH) is a chronic immune mediated liver disease characterized by elevated transaminases, hyper gammaglobulinemia, presence of autoantibodies and interface hepatitis in the absence of a known etiology of liver disease. Thiopurines (azathioprine [AZA]/6-mercaptopurine [6MP]) and steroids remain the first line of treatment of AIH in both children and adults. However, a small proportion of AIH patients are either non-responders or develop side effects with AZA. The metabolism of AZA is complex and mediated by multiple enzymes...
March 2017: Journal of Clinical and Experimental Hepatology
https://www.readbyqxmd.com/read/28324110/effects-of-metreleptin-in-pediatric-patients-with-lipodystrophy
#8
Rebecca J Brown, Cristina Adelia Meehan, Elaine Cochran, Kristina I Rother, David E Kleiner, Mary Walter, Phillip Gorden
Context: Lipodystrophy syndromes are rare disorders of deficient adipose tissue. Metreleptin, a human analog of leptin, improved metabolic abnormalities in mixed cohorts of leptin-deficient children and adults with lipodystrophy. Objective: Determine effects of metreleptin on diabetes, hyperlipidemia, non-alcoholic fatty liver disease (NAFLD), growth, and puberty in leptin-deficient pediatric patients with lipodystrophy. Design: Prospective, single-arm, open-label studies with continuous enrollment since 2000...
January 23, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28318185/neonatal-acute-liver-failure-a-diagnosis-challenge
#9
Mirta Ciocca, Fernando Álvarez
Neonatal acute liver failure is a rare, very severe disease with a high rate of mortality. It is clinically and etiologically different from acute liver failure seen in older children and adults. Coagulopathy with an international normalized ratio ≥ 3 is the critical parameter that defines it. The most common causes are fetal alloimmune hepatitis, previously called neonatal hemochromatosis, viral infections, metabolic disorders, and hemophagocytic lymphohistiocytosis. There is a group of treatable diseases that require a very early diagnosis for the prescription of an adequate treatment...
April 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28262196/serum-chemerin-in-obese-children-and-adolescents-before-and-after-l-carnitine-therapy-relation-to-nonalcoholic-fatty-liver-disease-and-other-features-of-metabolic-syndrome
#10
Rasha T Hamza, Zeinab A Elkabbany, Ahmed M Shedid, Amira I Hamed, Asmaa O Ebrahim
BACKGROUND AND AIMS: Chemerin plays an important role in metabolic syndrome (MetS) including nonalcoholic fatty liver disease (NAFLD). L-carnitine (LC) may reduce plasma glucose, lipid profile, and improve liver function. The aim of the study was to assess serum chemerin in obese children with suspected NAFLD, the effect of LC on NAFLD grade, chemerin and metabolic profile. METHODS: Fifty obese children were compared to 50 controls. All were subjected to anthropometric assessment, liver function, fasting lipid profile, glucose/insulin (G/I) ratio, homeostasis model assessment (HOMA) index, serum chemerin and abdominal ultrasonography before and after LC...
October 2016: Archives of Medical Research
https://www.readbyqxmd.com/read/28241825/non-alcoholic-fatty-liver-disease
#11
REVIEW
Brent A Neuschwander-Tetri
Non-alcoholic fatty liver disease has emerged a major challenge because of it prevalence, difficulties in diagnosis, complex pathogenesis, and lack of approved therapies. As the burden of hepatitis C abates over the next decade, non-alcoholic fatty liver disease will become the major form of chronic liver disease in adults and children and could become the leading indication for liver transplantation. This overview briefly summarizes the most recent data on the pathophysiology, diagnosis, and treatment of non-alcoholic fatty liver disease...
February 28, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28238808/hypophosphatasia-an-overview-for-2017
#12
Michael P Whyte
Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features low serum alkaline phosphatase (ALP) activity (hypophosphatasemia) caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of ALP (TNSALP). Autosomal recessive or autosomal dominant inheritance from among >300 TNSALP (ALPL) mutations largely explains HPP's remarkably broad-ranging severity. TNSALP is a cell-surface homodimeric phosphohydrolase richly expressed in the skeleton, liver, kidney, and developing teeth...
February 24, 2017: Bone
https://www.readbyqxmd.com/read/28230078/unravelling-the-metabolic-impact-of-sbs-associated-microbial-dysbiosis-insights-from-the-piglet-short-bowel-syndrome-model
#13
Prue M Pereira-Fantini, Sean G Byars, James Pitt, Susan Lapthorne, Fiona Fouhy, Paul D Cotter, Julie E Bines
Liver disease is a major source of morbidity and mortality in children with short bowel syndrome (SBS). SBS-associated microbial dysbiosis has recently been implicated in the development of SBS-associated liver disease (SBS-ALD), however the pathological implications of this association have not been explored. In this study high-throughput sequencing of colonic content from the well-validated piglet SBS-ALD model was examined to determine alterations in microbial communities, and concurrent metabolic alterations identified in urine samples via targeted mass spectrometry approaches (GC-MS, LC-MS, FIA-MS) further uncovered impacts of microbial disturbance on metabolic outcomes in SBS-ALD...
February 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28220684/living-donor-liver-transplantation-during-the-first-three-months-of-life
#14
Mureo Kasahara, Seisuke Sakamoto, Kengo Sasaki, Hajime Uchida, Toshihiro Kitajima, Takanobu Shigeta, Soichi Narumoto, Yoshihiro Hirata, Akinari Fukuda
BACKGROUND: Living donor liver transplantation is now an established technique for treating children with end-stage liver disease. Few data exist about liver transplantation for exclusively young infants, especially infants of <3 months of age. We report our single-center experience with 12 cases in which living donor liver transplantation (LT) was performed during the first 3 months of life and compare the results with those of older infants who underwent LT. All of the patients were treated at the National Center of Child Health and Development, Tokyo, Japan...
February 21, 2017: Liver Transplantation
https://www.readbyqxmd.com/read/28219060/steady-state-therapy-with-azithromycin-or-low-dose-prednisolone-in-paediatric-cystic-fibrosis-patients-inflammatory-markers-and-disease-progression
#15
Galina Shmarina, Alexander Pukhalsky, Lucine Avakian, Sergey Semykin, Daria Pukhalskaya, Vladimir Alioshkin
BACKGROUND: Anti-inflammatory therapy is a logical approach to slowing the inevitable lung function deterioration in cystic fibrosis (CF) patients. This study's aim was to evaluate inflammatory markers and disease progression in paediatric CF patients chronically treated with azithromycin or low-dose prednisolone. METHODS: The study included 204 patients with CF and 100 healthy controls; 102 CF patients were treated with basic therapy only (without anti-inflammatory treatment; WAT), and 102 individuals received basic therapy along with azithromycin (n = 59) or low-dose prednisolone (n = 43)...
2017: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/28213828/screening-for-non-alcoholic-fatty-liver-disease-in-children-and-adolescents-with-type-1-diabetes-mellitus-a-cross-sectional-analysis
#16
Sebastian Kummer, Dirk Klee, Gerald Kircheis, Michael Friedt, Joerg Schaper, Dieter Häussinger, Ertan Mayatepek, Thomas Meissner
The liver is intensely involved in glucose metabolism and is thereby closely related to diabetes pathophysiology. Adult patients with type 1 diabetes mellitus (DM) are at an increased risk for non-alcoholic fatty liver disease (NAFLD). Here, we studied the prevalence of NAFLD in a cohort of children and adolescents with type 1 DM in a tertiary care paediatric diabetes centre in Germany. We screened 93 children and adolescents with type 1 DM using ultrasound, laboratory investigations, and liver stiffness measurements (Fibroscan® [FS] and acoustic radiation force imaging [ARFI])...
February 17, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28208962/the-effect-of-nutritional-status-on-outcome-of-hospitalization-in-paediatric-liver-disease-patients
#17
Yasmeen Mansi, Shereen Abdel Ghaffar, Shaymaa Sayed, Hanaa El-Karaksy
INTRODUCTION: Liver is an important organ for metabolism. It has a major role in integrating the various biochemical pathways of metabolism. Thus, children with chronic liver disease are at high risk for developing undernutrition, with important prognostic implications. AIM: To evaluate the nutritional status of hospitalized paediatric liver disease patients and its effect on outcome. MATERIALS AND METHODS: We prospectively analysed the nutritional status of 59 consecutive patients during their first 24 hours of admission, at the Hepatology Unit, using the following indices: weight/age, height/age, weight/height, Body Mass Index (BMI), arm circumference and triceps skinfold, subcapular skinfold, and mid upper arm circumference...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28197978/managing-cardiovascular-risk-in-lysosomal-acid-lipase-deficiency
#18
REVIEW
James J Maciejko
Lysosomal acid lipase deficiency (LAL-D) is a rare, life-threatening, autosomal recessive, lysosomal storage disease caused by mutations in the LIPA gene, which encodes for lysosomal acid lipase (LAL). This enzyme is necessary for the hydrolysis of cholesteryl ester and triglyceride in lysosomes. Deficient LAL activity causes accumulation of these lipids in lysosomes and a marked decrease in the cytoplasmic free cholesterol concentration, leading to dysfunctional cholesterol homeostasis. The accumulation of neutral lipid occurs predominantly in liver, spleen, and macrophages throughout the body, and the aberrant cholesterol homeostasis causes a marked dyslipidemia...
February 14, 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/28123333/clinical-molecular-and-genetic-evaluation-of-galactosemia-in-turkish-children
#19
Sezen Ugan Atik, Semra Gürsoy, Tuba Koçkar, Hasan Önal, Servet Erdal Adal
AIM: Galactosemia is a carbohydrate metabolism disorder with autosomal recessive inheritance. The most frequent enzyme deficiency is galactose-1-phosphate-uridylytransferase, which causes classic galactosemia. When the enzyme is absent, an infant cannot metabolize galactose-1-phosphate and it cumulates in liver, kidney, brain, tongue, lens, and skin. This study aimed to evaluate the clinical and molecular characteristics of patients with galactosemia, which is observed more frequently in our country than anywhere else in the world...
December 2016: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28111909/profile-and-outcome-of-first-109-cases-of-pediatric-acute-liver-failure-at-a-specialized-pediatric-liver-unit-in-india
#20
Seema Alam, Rajeev Khanna, Vikrant Sood, Bikrant Bihari Lal, Dinesh Rawat
BACKGROUND AND AIMS: The outcome of Pediatric acute liver failure largely depends on age and etiology. The aim of this work was to study the etiological spectrum and outcome of the pediatric acute liver failure cases. METHODS: This prospective observational study included all children (< 18 years age) fulfilling pediatric acute liver failure study group definition. Etiological evaluation was done and predictive factors for poor outcome (death or liver transplantation) were analyzed...
January 23, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
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