Title:Hereditary Rickets: A Quick Guide for the Pediatrician
Volume: 20
Issue: 4
Author(s): Abdulmajeed AlSubaihin*Jennifer Harrington
Affiliation:
- Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia
- King Saud University Medical City, Riyadh, Saudi Arabia
Keywords:
Rickets, hypophosphatemia, phosphaturia, hypercalciuria, hypocalcemia, vitamin D, FGF23.
Abstract: 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.
