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Paediatric renal tubulopathy represents a diverse spectrum of congenital and acquired disorders affecting the renal tubules in children, with significant implications for fluid and electrolyte homeostasis. This complex group of conditions encompasses various genetic and non-genetic abnormalities that manifest in dysfunctional renal tubular transport mechanisms, disrupting the reabsorption and secretion of electrolytes, minerals, and water. Common subtypes include Bartter syndrome, Gitelman syndrome, and Dent disease, among others, each characterized by distinctive clinical features and genetic mutations. Children with renal tubulopathies often present with early-onset electrolyte imbalances, polyuria, polydipsia, growth retardation, and metabolic acidosis. The genetic heterogeneity underlying these disorders highlights the importance of molecular diagnostics in identifying specific mutations, aiding in precise diagnosis and enabling personalized management strategies. Management typically involves a multidisciplinary approach, including dietary modifications, electrolyte supplementation, and in some cases, targeted pharmacotherapy. Complications such as nephrocalcinosis, renal failure, and impaired growth may arise, emphasizing the necessity for regular monitoring and intervention. Advances in genetic research and therapeutic modalities continue to enhance our understanding and management of Paediatric renal tubulopathies, paving the way for improved outcomes and quality of life for affected children. Early diagnosis and comprehensive care are essential in mitigating the impact of these conditions on renal function and overall health, emphasizing the importance of ongoing research and collaboration among clinicians, geneticists, and researchers in the Paediatric nephrology field.
