Non-Nutritional Rickets: Approach, Precision Medicine, And Outcomes

The review article discusses non-nutritional rickets, a diverse group of disorders that do not respond to oral calcium and vitamin D, often presenting before 6 months or after 2 years of age. It emphasizes the importance of a systematic diagnostic algorithm, where parathyroid hormone levels help differentiate between calciopenic and hypophosphatemic rickets. Fibroblast growth factor 23 assays are crucial for distinguishing between dependent and independent hypophosphatemic rickets subtypes. Additionally, levels of 1,25-dihydroxyvitamin D and 25-hydroxyvitamin D aid in subclassifying heritable forms of calciopenic rickets. The article highlights the role of molecular techniques in confirming diagnoses, facilitating precision medicine and genetic counseling.