Pediatric liver disease

AIM: To describe the characteristics of patients with chronic hepatitis B (CHB) presenting to a tertiary paediatric hospital in Perth, Western Australia. Review of implementation of previous follow-up recommendations for the cohort was also undertaken. METHOD: A retrospective data analysis of all individuals aged between 0 and 17 years presenting to the tertiary children's hospital who were hepatitis B surface antigen (HBsAg) positive over 8 years (2013-2020)...

In the last 10 years, the care of patients with cystic fibrosis (CF) has been revolutionized with the introduction of cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs, with a major impact on symptoms and life expectancy, especially considering the newest and highly effective elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) therapy. Conversely, adverse effects are relatively frequent, with some being life-threatening, such as severe hepatitis. Clinical trials on children starting CFTR modulators have reported transaminase elevations >3× upper limit of the norm in 10%-20% of patients, whereas real-life studies have reported discontinuation rates three times higher than those observed in phase 3 trials...

The medical term nonalcoholic fatty liver disease (NAFLD) was coined in 1986 for a condition that has since become the most prevalent liver disorder worldwide. In the last 3 years, the global professional community launched 2 consecutive efforts to purge NAFLD from the medical dictionary and recommended new terms based on disease pathophysiology rather than distinction from similar conditions featuring liver steatosis. A consensus by renowned clinical scholars primarily residing in the Asian-Pacific region introduced metabolic dysfunction-associated fatty liver disease (MAFLD) as a new name to replace NAFLD in 2020...

BACKGROUND: World Health Organization proposed 7 warning signs to identify the risk of severe dengue in 2009. This study aimed to evaluate the value of these warning signs in detecting severe dengue in children. MATERIAL AND METHODS: A cross-sectional study was conducted utilizing data of children with clinical dengue infection obtained from medical records between January 2009 and December 2018 in Jakarta. Children with confirmed dengue were analyzed and stratified into 3 age groups: infants less than 1 year old, children 1-14 years and adolescents 15-18 years of age...

BACKGROUND: Multifocal infantile hemangiomas (IHs) are focal cutaneous lesions affecting more than 1 anatomic site. The multifocal distribution pattern is the rarest form of IH manifestation, accounting for only 3-4% of all affected infants. This type of cutaneous IHs may be a marker for extracutaneous disease, with the liver being the most frequently affected organ. METHODS: We investigated the clinical and epidemiological characteristics of a small case series of infants with multifocal IHs presenting with different clinical patterns, all diagnosed and treated in a regional tertiary-care pediatric clinic...

The term "non-alcoholic fatty liver disease" (NAFLD) has been, for a long time, used to describe the spectrum of liver lesions encompassing steatosis, steatohepatitis (NASH), and steatotic cirrhosis [...].

Pediatric acute liver failure (PALF) is a severe liver dysfunction with complex pathological mechanisms and rapid development. MiRNAs have been identified as promising biomarkers for human disease screening and monitoring. This study focused on evaluating the clinical significance of miR-224-5p in PALF and revealing its potential molecular mechanism in regulating liver cell injury. This study enrolled 103 children with PALF and 55 healthy children without liver diseases. Serum miR-224-5p levels were compared between the two groups, and their clinical significance was estimated by analyzing the correlation with clinicopathological features and outcomes of PALF children...

OBJECTIVES: To describe the scope of left ventricular (LV) dysfunction and left heart hypoplasia (LHH) in infants with congenital diaphragmatic hernia (CDH), to determine associations with CDH severity, and to evaluate the odds of extracorporeal membrane oxygenation (ECMO) and death with categories of left heart disease. STUDY DESIGN: Demographic and clinical variables were collected from a single-center, retrospective cohort of CDH patients from January 2017 through May 2022...

INTRODUCTION: Parallel to the worldwide increase in obesity, the epidemic of chronic liver disease is increasing also in pediatric population. Our aim is to provide a different outlook on the current screening confusion in pediatric non-alcoholic fatty liver disease (NAFLD) with the non-invasive vibration-controlled transient elastography (VCTE) method. MATERIALS AND METHODS: This single-center, cross-sectional, comparative study was performed at the tertiary center, included 95 patients with obesity and 116 controls, both groups were 9-18 years of ages...

INTRODUCTION: Sinusoidal obstructive syndrome (SOS), or veno-occlusive disease (VOD), of the liver has been recognized as a complex, life-threatening complication in the post-hematopoietic stem cell transplant (HSCT) setting. The diagnostic criteria for SOS have evolved over the last several decades with a greater understanding of the underlying pathophysiology, with two recent diagnostic criteria introduced in 2018 (EBMT criteria) and 2020 (Cairo criteria). OBJECTIVE: We sought out to evaluate the performance characteristics in diagnosing and grading SOS in pediatric patients of the four different diagnostic criteria (Baltimore, Modified Seattle, EBMT, and Cairo) and severity grading systems (defined by the EBMT and Cairo criteria)...

OBJECTIVES: The mitochondrial elongation factor Tu (EF-Tu), encoded by the TUFM gene, is a GTPase, which is part of the mitochondrial protein translation mechanism. If it is activated, it delivers the aminoacyl-tRNAs to the mitochondrial ribosome. Here, a patient was described with a homozygous missense variant in the TUFM [c.1016G>A (p.Arg339Gln)] gene. To date, only six patients have been reported with bi-allelic pathogenic variants in TUFM, leading to combined oxidative phosphorylation deficiency 4 (COXPD4) characterized by severe early-onset lactic acidosis, encephalopathy, and cardiomyopathy...

The liver, which presents as a focal point for tuberculosis in pediatric cases, is rarely encountered, and reported instances are scarce. This atypical manifestation underscores the management of tuberculosis affecting this particular organ in the context of pediatric patients. The treatment of solitary tubercular liver abscesses in children necessitates a collaborative approach, engaging pediatricians, infectious disease specialists, and interventional radiologists. It also needs awareness among physicians to explore and treat early and to complete further assessments for a better outcome...

OBJECTIVES: Gaucher Disease (GD) is a lysosomal storage disease caused by glucocerebrosidase (GCase) enzyme deficiency. Gaucher cells transformed from the macrophages by progressive sphingolipid accumulation and infiltrate bone marrow, spleen, liver, and other organs. The accumulation of substrate causes inflammation, compromised cellular homeostasis, and disturbed autophagy. It has been hypothesized that this proinflammatory state of GD leads cytokines and chemokines release. As a result of inflammatory process, the cellular dysfunction caused by disruption of cellular signaling, organelle dysfunction, or autoimmune antibodies may affect endocrine profile of GD patients such as hormone levels, lipid profile, and bone mineral density status...

OBJECTIVES: We investigated the current prevalence of metabolic dysfunction-associated steatotic liver disease (MASLD) and fibrosis/cirrhosis and identified at-risk populations for MASLD and MASLD-related fibrosis among US adolescents and young adults in the United States. METHODS: Utilizing the National Health and Nutrition Examination Survey 2017-2020, the prevalence of MASLD and fibrosis/cirrhosis was assessed via controlled attenuation parameter (CAP) score and liver stiffness measurements by transient elastography in participants aged 12-29 years with at least one cardiometabolic criteria and absence of other chronic liver disease...

OBJECTIVES: Paediatric acute liver failure (PALF) is a life-threatening disease. Management aims to support hepatic regeneration or to bridge to liver transplantation. High-volume plasmapheresis (HVP) removes protein-bound substances, alleviates inflammation, and improves survival in adult acute liver failure. However, experience with HVP in PALF is limited. Aim of this study is to report on feasibility, safety, efficacy and outcomes of HVP in PALF. METHODS: Retrospective observational study in children with PALF...

OBJECTIVES: The primary objective of this study is to further explore associations between social influencers of health and markers of disease severity at the time of presentation of patients with pediatric metabolic dysfunction-associated steatotic liver disease (MASLD) using neighborhood-level Area Deprivation Index (ADI) scores. METHODS: A retrospective cross-sectional study was conducted among 344 pediatric MASLD patients. Each patient received an ADI score based on their 9-digit zip code...

BACKGROUND: Hepatic osteodystrophy refers to bone disorders associated with chronic liver disease, including children undergoing liver transplantation (LT). The aim of this study was to quantify the prevalence of pathological fractures (PF) in children before and after LT and to identify associated factors for their occurrence. METHODS: Children aged 0-18 years who underwent LT from 1/2005 to 12/2020 were included in this retrospective study. Data on patient demographics, types and anatomical locations of fracture and biological workups were extracted...

AIM: Acquired post-transplant diaphragmatic hernia (PTDH) is a rare complication of liver transplantation (LT) in children. We aimed to present our experience in PTDH, and a possible causative background is discussed. METHODS: Medical records of patients who had undergone diaphragmatic repair following LT between 2015 and 2023 were reviewed. Demographic information, details of primary diseases necessitating LT, transplantation techniques, and clinical findings associated with PTDH were evaluated...

Objective: To analyze the clinical manifestations, pathology, and gene variant characteristics in children with progressive familial intrahepatic cholestasis type 3 (PFIC3). Methods: This retrospective study assessed the clinical manifestations, pathological features, gene variants, and prognosis data of 11 children with PFIC3 hospitalized in the Department of Hepatology, Fifth Medical Center, PLA General Hospital, from January 2015 to December 2022. Panel or whole exome sequencing was performed on the probands, followed by Sanger sequencing for verification within the family...

BACKGROUND: Systemic lupus erythematosus (SLE) and Wilson's disease (WD) are both systemic diseases that can affect multiple organs in the body. The coexistence of SLE and WD is rarely encountered in clinical practice, making it challenging to diagnose. CASE REPORT: We present the case of a 9-year-old girl who initially presented with proteinuria, haematuria, pancytopenia, hypocomplementemia, and positivity for multiple autoantibodies. She was diagnosed with SLE, and her blood biochemistry showed elevated liver enzymes at the time of diagnosis...