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2022•International Journal of Science and Healthcare ResearchOpen access

A Mismanaged Case of Hypophosphatemic Rickets

Sugha Varuna, Bharti Sapna

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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

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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

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Available 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

Key concepts: Hypophosphatemic Rickets, Hypophosphatemia, Rickets, PHEX, Medicine, Vitamin D and neurology, Endocrinology, Internal medicine

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