Genetic background of infantile hypophosphatemia: a narrative review

In cases of infants with hypophosphatemia of unknown etiology, the possibility of genetic factors should be taken into consideration. We have enumerated more than ten genetic disorders associated with infantile hypophosphatemia. These disorders involve pathogenic variants in over a dozen genes and affect multiple target organs, primarily including the kidneys, intestines, and bones. These diseases can be classified according to whether they are mediated by FGF23. We believe that this review would offer valuable insights into the clinical diagnosis and treatment of infantile hypophosphatemia related to genetic etiologies.