Hereditary Rickets: A Quick Guide for the Pediatrician

With the increased discovery of genes implicated in vitamin D metabolism and the regulation of calcium and phosphate homeostasis, a growing number of genetic forms of rickets are now recognized. These are categorized into calciopenic and phosphopenic rickets. Calciopenic forms of hereditary rickets are caused by genetic mutations that alter the enzymatic activity in the vitamin D activation pathway or impair the vitamin D receptor action. Hereditary forms of phosphopenic rickets, on the other hand, are caused by genetic mutations that lead to increased expression of FGF23 hormone or that impair the absorptive capacity of phosphate at the proximal renal tubule. Due to the clinical overlap between acquired and genetic forms of rickets, identifying children with hereditary rickets can be challenging. A clear understanding of the molecular basis of hereditary forms of rickets and their associated biochemical patterns allow the health care provider to assign the correct diagnosis, avoid non-effective interventions and shorten the duration of the diagnostic journey in these children. In this mini-review, known forms of hereditary rickets listed on the Online Mendelian Inheritance in Man database are discussed. Further, a clinical approach to identify and diagnose children with hereditary forms of rickets is suggested.

Automated summary

With the discovery of genes involved in vitamin D metabolism and calcium-phosphate regulation, there are now more recognized genetic forms of rickets. These can be classified into low calcium and low phosphate rickets. The clinical overlap between acquired and genetic forms of rickets makes it challenging to identify children with hereditary rickets. Understanding the molecular basis and associated biochemical patterns of hereditary rickets allows healthcare providers to accurately diagnose and shorten the diagnostic journey for these children.