Advances in Diagnosis and Treatment of Inherited Kidney Diseases in Children

Abstract

Background: Inherited kidney diseases (IKD) in children present unique diagnostic and therapeutic challenges. IKD stand as a formidable challenge on patient quality of life, morbidity, mortality, and cost to the healthcare system. With over 150 genetic abnormalities, they account for approximately 30% of cases requiring renal replacement therapy. The urgency lies in advancing both diagnosis and treatment strategies. Here, we present review of the advances in diagnosis and treatment for facilitating personalized treatment approaches. Summary: The diagnostic landscape for IKD has evolved significantly, emphasizing precise genetic identification and classification of these disorders. Recent advancements include the refinement of genetic testing techniques, such as whole exome sequencing, which has improved the accuracy of diagnosing specific diseases and facilitated early intervention strategies. Additionally, this review categorizes IKD based on genetic abnormalities and clinical manifestations, enhancing understanding and management approaches. Finally, it summarizes the corresponding treatment, and list the application of emerging therapeutic options such as gene therapy and organoids, which show promise in transforming treatment outcomes. Key Messages: This review summarizes common types of IKD in children, including their diagnosis and treatment advances, and provides an update on the status of gene therapy development for these disorders.