Case Report
Year: 2022 | Month: July-September | Volume: 7 | Issue: 3 | Pages: 375-377
DOI: https://doi.org/10.52403/ijshr.20220750
A Mismanaged Case of Hypophosphatemic Rickets
Sugha Varuna1, Bharti Sapna2
1In charge, Pediatrics Unit, Civil hospital, Bhawarna, Distt Kangra (HP)
2In charge, OBG Unit, Civil hospital, Bhawarna, Distt Kangra (HP)
Corresponding Author: Bharti Sapna
ABSTRACT
X-linked hypophosphatemic rickets is a common cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of FGF23 which causes phosphaturia. Due to its rarity, X linked hypophosphatemic rickets is poorly known and diagnosis is frequently delayed. Conventional treatment is based on oral phosphate salts supplementation and activated vitamin D analogs, which however, cannot cure the disease in most cases.
Keywords: X linked hypophosphatemic rickets, FGF23, PTH