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THE JOURNAL OF THE JAPAN PEDIATRIC SOCIETY
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Vol.129, No.3, March 2025
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Review
Title
Current Status and Perspectives on Pediatric Metabolic Dysfunction-Associated Steatotic Liver Disease
Author
Toshifumi Yodoshi
Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children
Abstract
Non-alcoholic fatty liver disease (NAFLD) has become the most prevalent chronic liver diseases in children. In 2023, this disease concept underwent a significant transformation, with the nomenclature changing to metabolic dysfunction-associated steatotic liver disease (MASLD) and metabolic dysfunction-associated steatototic steatohepatitis (MASH). Furthermore, the Japan Society of Hepatology proposed "The Nara Declaration 2023," advocating early intervention for cases with ALT levels above 30 IU/L. Pediatric NAFLD/MASLD may have already progressed to NASH in approximately half of the cases at diagnosis and can coexist with renal disease, hypertension, type 2 diabetes, sarcopenia, and psychiatric disorders. The prevalence of adult NAFLD in Japan is projected to reach 44.8% of the population by 2040 and is associated with increased mortality due to liver cirrhosis, liver cancer, and cardiovascular disease. In the United States, liver cirrhosis caused by NASH is one of the leading indications for liver transplantation in young adults. Pediatric NAFLD/MASLD should not be underestimated as mere fatty liver in daily clinical practice; early diagnosis and continuous intervention involving families and society are essential before the "silent organ" manifests symptoms. Screening for pediatric NAFLD/MASLD is recommended for children aged 8 years and older with obesity. Definitive diagnosis is made by identifying fat accumulation in 5% or more of hepatocytes through liver biopsy or imaging tests. While weight reduction is the cornerstone of treatment, adult pharmacotherapies include GLP-1 receptor agonists and resmetirom, the first FDA-approved NASH drug in 2024. Further developments in the pediatric field are anticipated in the near future.
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Original Article
Title
Use of Implantable Cardiac Monitors in Seven Adults with Congenital Heart Disease
Author
Fumitake Miura Ryosuke Nakai Sorachi Shimada Takumi Kobayashi Yoshichika Maeda Mika Saito Kanako Kishiki Tomomi Uyeda Yuji Hamamichi Satoshi Yazaki and Tadahiro Yoshikawa
Department of Pediatric Cardiology, Sakakibara Heart Institute
Abstract
Implantable cardiac monitors (ICM) are useful for diagnosing unexplained syncope and palpitations, and treatments based on ICM-based diagnoses are effective. Although ICMs are useful in adults, few studies have evaluated their usefulness in adult patients with congenital heart diseases, the numbers for whom are increasing. Hence, in this study, we retrospectively reviewed the medical records of 7 adults with congenital heart disease who underwent ICM implantation between April 2012 and November 2020. We also evaluated the patients' progress and the usefulness of ICM implantation. The patients included 5 men and 2 women aged between 15 and 48 years (median age, 22 years). No patient had a significant family history. Symptoms that led to ICM implantation were syncope in 6 patients, and presyncope in 1 patient. ICM data at the time of symptom recurrence led to the diagnosis of arrhythmia in 2 patients, one of whom was effectively treated based on ICM diagnosis and did not have recurrent syncope. In the other 2 patients who did not experience cardiac events, based on ICM data at the time of symptom recurrence, the diagnosis of neurological or psychiatric disease was confirmed by further examination. Our findings suggest that ICMs can be useful for diagnosing syncope in adults with congenital heart disease.
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Case Report
Title
An Extremely Low Birth Weight Infant with Critical Pulmonary Stenosis Who Underwent Balloon Pulmonary Valvuloplasty and Established Biventricular Circulation
Author
Yuichiro Sugitani Jun Muneuchi Chie Yokota Mamie Watanabe and Junko Yamamoto
Department of Pediatrics, Kyushu Hospital, Japan Community Healthcare Organization
Abstract
Extracardiac complications, including brain hemorrhage and necrotizing enterocolitis, are concerns in the management of extremely low birth weight (ELBW) newborns with congenital heart disease. We herein present a case of an ELBW newborn with critical pulmonary stenosis (CPS) who underwent successful transcatheter pulmonary valvuloplasty (BPV) with avoiding cardiac and extracardiac complications and established biventricular circulation.
A preterm baby was born weighing 514 g at 25 weeks gestational age by emergent caesarian section due to maternal pregnancy-induced hypertension and fetal distress. The patient had been diagnosed with CPS at 24 weeks gestational age. The ductus arteriosus was patent without the administration of prostaglandin E1. However, the ductus arteriosus was getting narrow according to age, cyanosis (systemic oxygen saturation 65%), systemic edema, and pericardial effusion developed at 2 months of age. Therefore, we performed BPV at 86 days of age and with a weight of 1,570 g to secure antegrade pulmonary blood flow. The right ventricular systolic pressure was 141/19 mmHg. The pulmonary annulus diameter was 4.6 mm, which was dilated using a 6 mm-balloon catheter. The right ventricular systolic pressure decreased to 53/15 mmHg and systolic oxygen saturation increased to 90%. After a second additional BPV, she was discharged at 236 days of age. ELBW newborns with critical congenital heart disease have high morbidity and mortality of extracardiac complications due to immaturity and unstable hemodynamics. Therefore, the therapies for congenital heart disease of ELBW newborns should encompass both transcatheter interventions and cardiac surgery at optimal intervals to avoid extracardiac complications and preserve life.
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Case Report
Title
A Case of a Newborn with Glycogen Storage Disease Type IB Whose Hypoglycemia Was Managed Using Continuous Glucose Monitoring
Author
Akio Yamano1) Hidehito Kondo2) Daisuke Kinoshita1) and Akira Nishimura1)2)
1)Department of Neonatology, Japanese Red Cross Kyoto Daiichi Hospital
2)Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital
Abstract
Glycogen storage disease (GSD) type I is an autosomal recessive genetic disorder characterized by abnormal glycogen metabolism, often associated with neurodevelopmental disabilities due to hypoglycemia.
A one-year-old girl was diagnosed with GSD type Ib following observations of hyperlactatemia and hypoglycemia, which were continuously monitored using a continuous glucose monitoring (CGM) system. A Bland-Altman plot of 171 paired blood and interstitial glucose concentrations demonstrated significant association, indicating the accurate detection of hypoglycemic episodes by CGM. Despite adherence to a specialized formula for GSD, recurrent episodes of asymptomatic hypoglycemia necessitated the initiation of continuous feeding. Subsequently, the patient was discharged at 75 days of age with improved blood glucose control. By one year of age, the patient exhibited normal development.
Identifying hypoglycemia based solely on symptoms in neonates is challenging. However, even in neonatal cases, utilization of CGM proves beneficial in preventing hypoglycemic episodes, particularly in conditions with a high risk of hypoglycemia, such as GSD.
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Case Report
Title
A Case of Infectious Mononucleosis Using the Epstein-Barr Virus-infected Cell Identification Test for Differentiation
Author
Seunghwan Kwak1) Akiko Kinumaki1) Hiroyuki Tanaka1) Yuko Kajiho1) Chie Takahashi1) Shoichiro Kanda1) Ken-Ichi Imadome2) and Motohiro Kato1)
1)Department of Pediatrics, The University of Tokyo Hospital
2)Division of Advanced Medicine for Virus Infections, National Center for Child Health and Development
Abstract
The Epstein-Barr Virus (EBV) causes infectious mononucleosis (IM) when it infects B cells, which are the main target cells; however, when it infects T cells and NK cells, it causes chronic active Epstein-Barr virus disease (CAEBV). Although the outcomes of these two diseases are very different, they present with similar symptoms, making it difficult to strictly differentiate them during the early stages.
A 7-year-old boy with remittent fever, eyelid edema, and cervical lymphadenopathy was diagnosed with EBV infection based on antibody titers. The patient was hospitalized because of poor oral intake and decreased blood cell count. As there was no improvement in the symptoms and significant lymphadenopathy, an EBV-infected cell identification test was performed for differentiation. The EBV-infected cells were CD19 positive B cells, and the patient was diagnosed with IM and started on prednisolone. The symptoms and laboratory values improved, and there were no further symptom flare-ups. Due to the severe disease course, genetic testing was performed to investigate X-linked lymphoproliferative disease with a specific immune response defect against EBV; however, no corresponding pathological variants were found.
EBV-associated diseases, such as IM and CAEBV are difficult to distinguish from their symptoms alone; however, the prognosis is very different. The prompt identification of infected cells can lead to appropriate treatment and management.
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Case Report
Title
Diagnosis of Congenital Absence of the Portal Vein with a Concomitant Hepatic Mass in a Young Girl
Author
Tomoko Yamamoto1) Junichi Nakagawa2) Kousuke Kudou3) Kouki Nikaidou1) Hideomi Asanuma1) Youko Hoshino1) Mai Ishihara1) Akihiro Nui4) Shinichirou Yokoyama4) and Natsuko Inazawa1)
1)Department of General Medicine, Hokkaido Medical Center for Child Health and Rehabilitation
2)Department of Radiology, Sapporo Kousei Hospital
3)Department of Radiology, Hokkaido University Hospital
4)Department of Pediatric Surgery, Hokkaido Medical Center for Child Health and Rehabilitation
Abstract
Approximately half of all patients with congenital absence of the portal vein (CAPV) are diagnosed when high galactose is identified during neonatal mass screening. This case involves a patient who was not diagnosed with CAPV during the neonatal period. The diagnosis was made in early childhood following the appearance of a hepatic mass, which developed into multiple masses and enlarged over time. A six-year-old girl had been born with ring-X Turner and Noonan syndromes. The neonatal mass screening results were unremarkable, and there were no abnormal findings such as liver dysfunction or hepatic mass. Magnetic resonance imaging (MRI) at 4 years 8 months of age revealed a hepatic mass. However, the presence of this mass was not evident on contrast-enhanced computed tomography (CT), leading to the adoption of a watchful waiting policy. From approximately 6 years of age, rapid enlargement of the hepatic mass and the development of multiple masses became evident, and another contrast-enhanced MRI scan conducted at that time revealed concomitant CAPV. Childhood CAPV is rare, and its diagnosis resulting from a hepatic mass is even rarer. When such a mass is observed, a search for shunt vessels on contrast-enhanced diagnostic images should be made owing to the possible presence of CAPV.
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