A Novel PHEX Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets

• Published in: Endocrinology and metabolism (Seoul) 2014, 29(2), , pp.195-201
• Main Authors: Kang, Yea Eun, Hong, Jun Hwa, Kim, Jimin, Joung, Kyong Hye, Kim, Hyun Jin, Ku, Bon Jeong, Kim, Koon Soon
• Format: Article
• Language: English
• Subjects: Case Report; 내과학
• ISSN: 2093-596X; 2093-5978
• DOI: 10.3803/EnM.2014.29.2.195

Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations in sporadic rickets are less common than in XLH rickets. Herein, we describe a 50-year-old female patient with sporadic hypophosphatemic rickets harboring a novel splicing-site mutation in the PHEX gene (c.663+1G>A) at the exon 5-intron 5 boundary. The patient had recently suffered from right thigh pain and an aggravated waddling gait. She also presented with very short stature, generalized bone pain, and muscle weakness. Despite low serum phosphate levels, her phosphate reabsorption rate was lower than normal. Additionally, her 1,25-dihydroxyvitamin D3 concentration was lower than normal, although FGF23 level was normal. After treatment with alfacalcidol and elemental phosphate, her rachitic symptoms subsided, and callus formation was observed in the fracture site on the right femur.