Peer-reviewed article

Enhancing pediatric practice: A comprehensive review on malabsorption in pediatrics for diagnostic and management approach.

Valentina Pucinischi, Giacomo Giarrusso, Giorgia Gallo, Giovanni Di Nardo, Silvia Furio et al. · 8 Jul 2025

Abstract

Malabsorption in children presents significant diagnostic and therapeutic challenges due to its diverse etiologies and broad spectrum of symptoms. This review aims to support pediatric clinicians by providing a structured guide for recognizing, diagnosing, and managing malabsorption syndromes in children, promoting early intervention to prevent long-term complications. Malabsorption, defined as the inefficient absorption of nutrients, manifests with symptoms such as diarrhea, failure to thrive, and systemic nutritional deficiencies. The etiologies are categorized into intestinal, pancreatic, hepatobiliary, and extraintestinal causes, necessitating a multidisciplinary approach tailored to the patient's age and clinical presentation. Diagnostic strategies emphasize stool analysis, serological testing, and imaging to identify conditions such as Celiac disease, Crohn's disease, or exocrine pancreatic insufficiency. The review explores the gastrointestinal system's complexity, detailing critical phases of digestion-luminal, mucosal, and transport-and processes specific to neonates and infants. Common issues like lactose intolerance, small intestinal bacterial overgrowth (SIBO), and bile acid malabsorption are addressed, alongside rare genetic and metabolic disorders that require targeted diagnostic approaches. Management focuses on dietary modifications, enzyme replacement therapy, and condition-specific interventions to ensure optimal growth and development. Special attention is given to the unique challenges of neonatal and infant cases, where developmental immaturity and congenital disorders often complicate evaluation and treatment. By synthesizing current evidence and clinical guidelines, this review provides pediatricians with a practical framework for addressing the multifaceted challenges of malabsorption. It emphasizes the importance of early recognition and multidisciplinary care to improve patient outcomes and quality of life.