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

  • Anjali R Nair Government Medical College, Thiruvananthapuram, India
  • Remya Nair Government Medical College, Thiruvananthapuram
  • PK Jabbar Government Medical College, Thiruvananthapuram
  • Abilash Nair Government Medical College, Thiruvananthapuram
Keywords: Hypophosphatemia, Rickets, Hereditary, X Linked, Osteomalacia

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.

Author Biographies

Anjali R Nair, Government Medical College, Thiruvananthapuram, India

 Senior Resident, Department of Endocrinology and Metabolism

Remya Nair, Government Medical College, Thiruvananthapuram

 MD Senior Resident, Department of Endocrinology and Metabolism

PK Jabbar, Government Medical College, Thiruvananthapuram

DM, Professor, Department of Endocrinology and Metabolism

Abilash Nair, Government Medical College, Thiruvananthapuram

 MD, DM Associate Professor, Department of Endocrinology and Metabolism

Published
2023-12-30
How to Cite
Nair, A., Nair, R., Jabbar, P., & Nair, A. (2023). Hereditary Hypophosphatemic Rickets presenting to a Tertiary Care Centre in South India. Kerala Medical Journal, 16(1), 20-24. https://doi.org/10.52314/kmj.2023.v16i1.614
Section
Case Series / Case Report