Hereditary Hypophosphatemic Rickets presenting to a Tertiary Care Centre in South India

Abstract

Hypophosphatemic rickets was first described by Albright et al. in 1937. It may be hereditary or acquired. It is characterized by persistent hypophosphatemia and hyperphosphaturia. Among the inherited hypophosphatemic rickets, the most predominant type is inherited in an X-linked pattern due to the mutation in the gene encoding the phosphate-regulating endopeptidase homolog, Xlinked (PHEX). The other types being autosomal dominant and autosomal recessive. In this report we present 3 cases of hypophosphatemic rickets, presenting with skeletal and dental abnormalitites, their clinical features, radiological findings and genetics are described. Although rare the awareness of such cases is important for pediatricians, orthopaedicians, endocrinologist s and nephrologists alike. Early diagnosis and treatment of hypophosphatemic rickets with a team approach is of utmost importance as it may prevent subsequent sequelae.