4.6 Review

Challenges in pediatric inherited/metabolic liver disease: Focus on the disease spectrum, diagnosis and management of relatively common disorders

Related references

Note: Only part of the references are listed.
Article Gastroenterology & Hepatology

A multidisciplinary approach to the diagnosis and management of Wilson disease: Executive summary of the 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases

Michael L. Schilsky et al.

Summary: This is an executive summary of the extensively rewritten guidance on the diagnosis and management of Wilson disease. The full guidance document can be found on the American Association for the Study of Liver Diseases (AASLD) website. The summary provides an overview and guidance statements based on evidence and expert consensus opinion.

HEPATOLOGY (2023)

Review Gastroenterology & Hepatology

Primary biliary cholangitis as a roadmap for the development of novel treatments for cholestatic liver diseases

Frederik Nevens et al.

Summary: The discovery of nuclear receptors and transporters has contributed to the development of new drugs for the treatment of cholestatic liver diseases, particularly in the field of second-line therapies for PBC. These new drugs can target cholestasis, fibrogenesis, immune-mediated action, and symptom relief. Obeticholic acid is currently the only approved second-line therapy for PBC, while other drugs in late-stage clinical development include peroxisome proliferator-activated receptor agonists, norursodeoxycholic acid, and NADPH oxidase 1/4 inhibitors.

JOURNAL OF HEPATOLOGY (2023)

Article Endocrinology & Metabolism

Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan

Jun Kido et al.

Summary: This study investigates the clinical manifestations, medical therapy, and long-term outcome in 222 Japanese patients with citrin deficiency. The results show that patients with citrin deficiency have an increased risk for low weight and length at birth, and citrullinemia patients have an increased risk for growth impairment during adolescence. Liver transplantation has shown positive outcomes in a small number of patients.

JOURNAL OF INHERITED METABOLIC DISEASE (2022)

Review Biochemistry & Molecular Biology

Targeting the lysosome: Mechanisms and treatments for nonalcoholic fatty liver disease

Jing Pu

Summary: This review summarizes the role of lysosomes in regulating lipid metabolism and discusses the alterations of lysosome functions in the livers affected by NAFLD. Targeting lysosomes shows promise as a strategy for preventing and treating NAFLD progression. The review also provides insights into potential future directions for manipulating lysosome functions in NAFLD.

JOURNAL OF CELLULAR BIOCHEMISTRY (2022)

Review Gastroenterology & Hepatology

Alagille Syndrome Current Understanding of Pathogenesis, and Challenges in Diagnosis and Management

Mohammed D. Ayoub et al.

CLINICS IN LIVER DISEASE (2022)

Review Pediatrics

Update on glycogen storage disease: primary hepatic involvement

Tiffany L. Freeney Wright et al.

Summary: Glycogen storage diseases are a group of disorders characterized by hepatomegaly and fasting hypoglycemia. Timely diagnosis and proper management are crucial to prevent complications. Molecular genetic testing has made diagnosis easier. Maintaining stable glucose levels is essential for treating glycogen storage diseases.

CURRENT OPINION IN PEDIATRICS (2022)

Review Genetics & Heredity

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI

Miriam Massese et al.

Summary: This narrative review provides an overview of less studied forms of glycogen storage diseases (GSDs) involving muscular and renal tubular involvement, dyslipidemia, and osteopenia. Diagnoses are based on clinical manifestations and laboratory tests, with molecular analysis often necessary to distinguish between different forms. Early diagnosis is crucial for controlling the disease, improving quality of life, and prognosis.

ORPHANET JOURNAL OF RARE DISEASES (2022)

Review Biochemistry & Molecular Biology

The Role of Zinc in the Treatment of Wilson's Disease

Abolfazl Avan et al.

Summary: Wilson's disease is a disorder of copper metabolism that causes damage to the brain and liver. Although diagnosis is difficult, zinc has been recommended as an effective treatment for this disease.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

Article Biochemistry & Molecular Biology

Association of Metabolic Signatures with Nonalcoholic Fatty Liver Disease in Pediatric Population

Woori Chae et al.

Summary: This study aimed to evaluate the metabolome profile and metabolic pathway changes associated with pediatric NAFLD, successfully developing machine learning-based diagnostic models with excellent performance. Metabolome changes in pediatric NAFLD patients' plasma are associated with disease pathophysiology and can be used for less invasive diagnosis.

METABOLITES (2022)

Review Endocrinology & Metabolism

Metabolic basis and treatment of citrin deficiency

Kiyoshi Hayasaka

Summary: Citrin deficiency is a hereditary disorder caused by SLC25A13 mutations, affecting the energy metabolism of hepatocytes. MCT supplementation therapy is recommended for NICCD and CTLN2 patients to provide energy, promote lipogenesis, and improve ammonia detoxification.

JOURNAL OF INHERITED METABOLIC DISEASE (2021)

Review Nutrition & Dietetics

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

Terry G. J. Derks et al.

Summary: Glycogen storage disease type Ia is caused by a defective enzyme, leading to complications like severe hypoglycaemia. Strict dietary control and regular doses of uncooked cornstarch are crucial for managing the disease. There is a need for treatment strategies that address the underlying cause and improve quality of life.

NUTRIENTS (2021)

Review Pharmacology & Pharmacy

Cholestatic Liver Disease: Current Treatment Strategies and New Therapeutic Agents

Sho Hasegawa et al.

Summary: Cholestatic liver disease is a condition that causes liver damage and fibrosis due to bile stasis, represented by primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC). The pathogenesis of the disease is unclear and may progress to liver cirrhosis or failure. Ursodeoxycholic acid is effective in PBC treatment but limited in PSC cases, with ongoing research for new drugs.

DRUGS (2021)

Article Gastroenterology & Hepatology

Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France

Eduardo Couchonnal et al.

Summary: This study described a cohort of Wilson disease pediatric cases, highlighting the diagnostic challenges in children and the long-term outcomes. Most patients presented with hepatic manifestations at an early age, with a subset requiring liver transplantation. Diagnosis in pediatric patients relies on clinical scores and genetic testing for support.

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2021)

Article Pediatrics

Immunological features and complications in patients with glycogen storage disease 1b after living donor liver transplantation

Seiichi Shimizu et al.

Summary: Children with GSD1b who undergo liver transplantation are more susceptible to infections but do not experience acute rejection. Despite low levels of tacrolimus, there was no occurrence of TCMR.

PEDIATRIC TRANSPLANTATION (2021)

Article Genetics & Heredity

DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in G6PC by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis

Emma Tabe Eko Niba et al.

Summary: Glycogen storage disease type Ia is a disorder caused by G6PC deficiency, leading to life-threatening hypoglycemia and hepatocellular adenoma. A screening system using DBS samples has been developed for early detection of GSDIa, which specifically amplifies and detects wild-type and mutant alleles.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

Review Pharmacology & Pharmacy

Drug Therapies for Chronic Cholestatic Liver Diseases

Martin Wagner et al.

ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY, VOL 60 (2020)

Review Nutrition & Dietetics

Dietary Management of the Glycogen Storage Diseases: Evolution of Treatment and Ongoing Controversies

Katalin M. Ross et al.

ADVANCES IN NUTRITION (2020)

Review Pediatrics

Wilson disease in children and adolescents

Meranthi Fernando et al.

ARCHIVES OF DISEASE IN CHILDHOOD (2020)

Article Endocrinology & Metabolism

Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13

Melis Demir Kose et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2020)

Article Medicine, General & Internal

Glycogen storage diseases-time to flip the outdated diagnostic approach centered on liver biopsy with the molecular testing

Sibtain Ahmed et al.

PAKISTAN JOURNAL OF MEDICAL SCIENCES (2020)

Article Gastroenterology & Hepatology

Nonalcoholic Fatty Liver Disease in Children: Unique Considerations and Challenges

Dana Goldner et al.

GASTROENTEROLOGY (2020)

Review Biochemistry & Molecular Biology

AGC2 (Citrin) Deficiency-From Recognition of the Disease till Construction of Therapeutic Procedures

Takeyori Saheki et al.

BIOMOLECULES (2020)

Article Medicine, General & Internal

An update on the management of cholestatic liver diseases

Gautham Appanna et al.

CLINICAL MEDICINE (2020)

Review Medicine, Research & Experimental

Recent developments in genetic/genomic medicine

Rachel H. Horton et al.

CLINICAL SCIENCE (2019)

Article Medicine, General & Internal

Effect of a Low Free Sugar Diet vs Usual Diet on Nonalcoholic Fatty Liver Disease in Adolescent Boys A Randomized Clinical Trial

Jeffrey B. Schwimmer et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2019)

Article Genetics & Heredity

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities

Margot A. Cousin et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Article Biotechnology & Applied Microbiology

Challenges of Gene Therapy for the Treatment of Glycogen Storage Diseases Type I and Type III

Louisa Jauze et al.

HUMAN GENE THERAPY (2019)

Review Gastroenterology & Hepatology

Systematic review of progressive familial intrahepatic cholestasis

Alastair Baker et al.

CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY (2019)

Review Oncology

Clinical management of Wilson disease

Peter Hedera

ANNALS OF TRANSLATIONAL MEDICINE (2019)

Article Immunology

Viral Hepatitis Etiology, Epidemiology, Transmission, Diagnostics, Treatment, and Prevention

Simone Lanini et al.

INFECTIOUS DISEASE CLINICS OF NORTH AMERICA (2019)

Article Medicine, Research & Experimental

Melatonin: A hypothesis regarding its use to treat Wilson disease

Ramaswamy Sharma et al.

MEDICAL HYPOTHESES (2019)

Article Immunology

Liver Transplantation for Wilson's Disease in Non-adult Patients: A Systematic Review

Z. Garoufalia et al.

TRANSPLANTATION PROCEEDINGS (2019)

Article Endocrinology & Metabolism

Molecular biology and gene therapy for glycogen storage disease type Ib

Janice Y. Chou et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2018)

Review Gastroenterology & Hepatology

Novel and emerging therapies for cholestatic liver diseases

Jordan Goldstein et al.

LIVER INTERNATIONAL (2018)

Review Gastroenterology & Hepatology

Mediterranean diet and nonalcoholic fatty liver disease

Caterina Anania et al.

WORLD JOURNAL OF GASTROENTEROLOGY (2018)

Article Gastroenterology & Hepatology

Advances in Pediatric Fatty Liver Disease Pathogenesis, Diagnosis, and Treatment

Hayley A. Braun et al.

GASTROENTEROLOGY CLINICS OF NORTH AMERICA (2018)

Review Pediatrics

Wilson's Disease: A Review for the General Pediatrician

Kristin Capone et al.

PEDIATRIC ANNALS (2018)

Article Genetics & Heredity

Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong

S. C. Chong et al.

MOLECULAR GENETICS AND METABOLISM REPORTS (2018)

Article Clinical Neurology

Exchangeable copper: a reflection of the neurological severity in Wilson's disease

A. Poujois et al.

EUROPEAN JOURNAL OF NEUROLOGY (2017)

Article Pediatrics

Acute liver dysfunction not resulting from hepatitis virus in immunocompetent children

Tomoyuki Tsunoda et al.

PEDIATRICS INTERNATIONAL (2017)

Review Gastroenterology & Hepatology

Current and future therapies for inherited cholestatic liver diseases

Wendy L. van der Woerd et al.

WORLD JOURNAL OF GASTROENTEROLOGY (2017)

Article Gastroenterology & Hepatology

Prognostic Value of Controlled Attenuation Parameter by Transient Elastography

Ken Liu et al.

AMERICAN JOURNAL OF GASTROENTEROLOGY (2017)

Article Gastroenterology & Hepatology

Noninvasive assessment of liver steatosis in children: the clinical value of controlled attenuation parameter

Giovanna Ferraioli et al.

BMC GASTROENTEROLOGY (2017)

Review Gastroenterology & Hepatology

Pediatric liver diseases: current challenges and future perspectives

Claudia Della Corte et al.

EXPERT REVIEW OF GASTROENTEROLOGY & HEPATOLOGY (2016)

Article Gastroenterology & Hepatology

Update on alpha-1 antitrypsin deficiency: New therapies

David A. Lomas et al.

JOURNAL OF HEPATOLOGY (2016)

Article Gastroenterology & Hepatology

EASL-EASD-EASO Clinical Practice Guidelines for the management of non-alcoholic fatty liver disease

Giulio Marchesini et al.

JOURNAL OF HEPATOLOGY (2016)

Article Gastroenterology & Hepatology

Zinc Therapy for Wilson Disease in Children in French Pediatric Centers

Raoul Santiago et al.

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2015)

Review Gastroenterology & Hepatology

Evidence and Recommendations for Imaging Liver Fat in Children, Based on Systematic Review

Hannah I. Awai et al.

CLINICAL GASTROENTEROLOGY AND HEPATOLOGY (2014)

Article Gastroenterology & Hepatology

Progressive Familial Intrahepatic Cholestasis

Anshu Srivastava

JOURNAL OF CLINICAL AND EXPERIMENTAL HEPATOLOGY (2014)

Article Gastroenterology & Hepatology

Efficacy and Safety of Oral Chelators in Treatment of Patients With Wilson Disease

Karl Heinz Weiss et al.

CLINICAL GASTROENTEROLOGY AND HEPATOLOGY (2013)

Article Gastroenterology & Hepatology

Liver Transplant for Cholestatic Liver Diseases

Andres F. Carrion et al.

CLINICS IN LIVER DISEASE (2013)

Article Gastroenterology & Hepatology

Long-term effects of aerobic plus resistance training on the adipokines and neuropeptides in nonalcoholic fatty liver disease obese adolescents

Aline de Piano et al.

EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY (2012)

Review Medicine, General & Internal

Hepatocyte transplantation for inherited metabolic diseases of the liver

C. Jorns et al.

JOURNAL OF INTERNAL MEDICINE (2012)

Article Gastroenterology & Hepatology

Diagnosis of Nonalcoholic Fatty Liver Disease in Children and Adolescents: Position Paper of the ESPGHAN Hepatology Committee

Pietro Vajro et al.

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2012)

Article Medicine, General & Internal

Effect of Vitamin E or Metformin for Treatment of Nonalcoholic Fatty Liver Disease in Children and Adolescents The TONIC Randomized Controlled Trial

Joel E. Lavine et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2011)

Article Gastroenterology & Hepatology

Biochemical Parameters and Anthropometry Predict NAFLD in Obese Children

Claudio Maffeis et al.

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2011)

Article Gastroenterology & Hepatology

Pitfalls of Liver Stiffness Measurement: A 5-Year Prospective Study of 13,369 Examinations

Laurent Castera et al.

HEPATOLOGY (2010)

Article Gastroenterology & Hepatology

Pharmacotherapy of cholestatic liver diseases

Gustav Paumgartner

JOURNAL OF DIGESTIVE DISEASES (2010)

Review Gastroenterology & Hepatology

Medical Management of Alagille Syndrome

Binita M. Kamath et al.

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2010)

Article Endocrinology & Metabolism

Citrin deficiency and current treatment concepts

Takeyori Saheki et al.

MOLECULAR GENETICS AND METABOLISM (2010)

Article Gastroenterology & Hepatology

Pediatric nonalcoholic fatty liver disease: Overview with emphasis on histology

Yoshihisa Takahashi et al.

WORLD JOURNAL OF GASTROENTEROLOGY (2010)

Review Gastroenterology & Hepatology

EASL Clinical Practice Guidelines: Management of cholestatic liver diseases

Ulrich Beuers et al.

JOURNAL OF HEPATOLOGY (2009)

Article Endocrinology & Metabolism

Expanded newborn screening in Europe 2007

O. A. Bodamer et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2007)

Article Endocrinology & Metabolism

Novel diagnostic approach to citrin deficiency: Analysis of citrin protein in lymphocytes

Daisuke Tokuhara et al.

MOLECULAR GENETICS AND METABOLISM (2007)

Letter Gastroenterology & Hepatology

Evaluation of the scoring system for the diagnosis of Wilson's disease in children

A Dhawan

LIVER INTERNATIONAL (2005)

Article Clinical Neurology

Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation

S Ikeda et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2001)