Getting to know Progressive Familial Intrahepatic Cholestasis (PFIC)
Progressive Familial Intrahepatic Cholestasis (PFIC) is a group of rare, inherited liver disorders that present early in life and often lead to progressive liver disease, cirrhosis, and ultimately the need for liver transplantation. For paediatricians and physicians, early recognition and timely referral are critical to improving outcomes for affected children. This blog aims to equip […]
Why Nutrition Is Critical in Paediatric Liver Disease: A Clinical and Advocacy Perspective
Nutrition is more than just food—it is medicine, especially in children with liver disease. For paediatric patients, the liver plays a vital role in digestion, nutrient metabolism, energy storage, and detoxification. When liver function becomes impaired, nutrition is often one of the first and most severely affected domains. In recognition of World Liver Day on […]
The Importance of the Liver and Recognizing Paediatric Liver Disease: A Focus on World Liver Day, April 19th
Understanding the Liver’s Vital Role The liver is one of the most important organs in the body, responsible for over 500 essential functions that sustain life. It aids in digestion, stores nutrients, detoxifies harmful substances, regulates coagulation, and produces essential proteins. Given its multifaceted role, liver health is crucial, especially in children whose developing bodies […]
The Role of the Family Practitioner and Paediatrician in the Care of a Paediatric Post-Liver Transplant Patient
A paediatric liver transplant is a life-saving procedure, but the journey doesn’t end after surgery. Long-term care and follow-up are crucial to ensure the child’s well-being and to prevent complications. While transplant specialists play a central role, family practitioners and paediatricians are vital members of the care team. Their involvement ensures that the child receives […]
Alagille Syndrome: A Guide for Health Professionals
IntroductionAlagille Syndrome (ALGS) is a rare, multisystem genetic disorder that primarily affects the liver, heart, and other organs. Caused by mutations in the JAG1 or NOTCH2 genes, ALGS presents unique challenges in diagnosis, management, and long-term outcomes. As health professionals, understanding this complex condition is critical for early intervention and optimizing patient care. Understanding the […]
Recognizing Rare Paediatric Liver Diseases: Why Early Diagnosis Matters
Introduction As we observe Rare Disease Month, it’s crucial to highlight rare paediatric liver diseases—a group of conditions that, although individually uncommon, collectively have a significant impact on children’s health. Many of these conditions are underdiagnosed or misdiagnosed, leading to delays in treatment and, in some cases, preventable progression to end-stage liver disease or transplantation. […]
Acute Liver Failure in Children: Optimal Care and Accessing Transplant
Definition and Overview Acute liver failure (ALF) in children is a rare, rapidly progressive condition characterized by severe hepatic dysfunction in a previously healthy child. It is marked by coagulopathy (INR >1.5) and hepatic encephalopathy within weeks of the onset of symptoms. ALF demands urgent medical attention and, in severe cases, liver transplantation is often […]
Biliary Atresia: What Doctors Need to Know and the Importance of Specialized Care
BA is a rare orphan newborn liver disease that involves a rapid and progressive inflammatory and fibrotic process causing partial or complete obliteration of the extrahepatic –and often intrahepatic –bile ducts. Initiation of the injury occurs before or soon after birth and is recognised as one of the most rapidly progressive liver diseases known to […]