Precision Medicine in Pediatric Nephrology: From Monogenic Diseases to Personalized Immunosuppression
Abstract
Background: Pediatric nephrology is moving away from empirical, one-size-fits-all therapeutic strategies towards a precision medicine model. This is propelled by advanced genomic technologies that have uncovered the monogenic cause of many childhood kidney diseases and a recognition of inter-individual variation in drug response.
Aim: The purpose of this review is to summarize the present status and future prospects of precision medicine in pediatric nephrology. Two main pillars are highlighted: the use of genetic diagnosis in monogenic disease and the individualization of immunosuppressive treatment of acquired diseases.
Methods: A comprehensive review of the literature was conducted, scrutinizing peer-reviewed articles between 2010 and 2024. The synthesis integrates evidence from clinical trials, genomic studies, pharmacogenetic research, and emerging evidence on novel biomarkers to provide a composite overview for the practicing pediatric nephrologist.
Results: Genetic diagnosis, particularly through next-generation sequencing, now makes definitive diagnoses in a large proportion of steroid-resistant nephrotic syndrome (SRNS), congenital anomalies of the kidney and urinary tract (CAKUT), and ciliopathies. This directly impacts clinical care by ending diagnostic odysseys, informing prognosis and recurrence risk, and preventing futile immunosuppression. Meanwhile, pharmacogenomics, i.e., CYP3A5 genotyping to inform tacrolimus dosing, and novel biomarkers are enabling more personalized and potent immunosuppressive regimens with reduced toxicity.
Conclusion: Precision medicine is already transforming patient management in pediatric nephrology by enabling targeted diagnostics, prognostication, and therapy. While challenges surrounding accessibility, affordability, and the interpretation of genetic data remain, the application of these approaches is instrumental in advancing the field towards more effective and personalized patient management.
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Authors
Copyright (c) 2024 Maryam Zein Alabdin, Areej Adel Sheerah, Ashwaq Muhammad Alyazeedi, Hayah Mohammed Sulayli, Rahaf Mohammed Mokhtar Slaghour, Lama Khalid Abdulrahman Alhazmi, Yafeah Ali Hussain Al Rebeh, Neda Ali Abdullah Aldawood
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