X-linked hypophosphatemic rickets: a rare case report

Abstract

X-linked hypophosphatemic rickets (XLHR) is a rare hereditary disease. To date, the diagnosis and treatment of XLHR is still in dilemma due to a lack of cases. In the consensus recommendations for the XLHR proposed in Belgium, next-generation sequencing (NGS) is recommended in several genetic centers for PHEX and other skeletal dysplasia genes. We reported our experiences on the diagnosis and treatment of XLHR. A 17-year-old boy with a body height of 1.3 meters presented to our department with a compound deformity of lower limbs. He showed a visual analogue scale (VAS) of 3, short form 36 questionnaire (SF-36) of 90 scores, and health assessment questionnaire (HAQ) of 23. Laboratory examinations showed increased serum alkaline phosphatase levels (369 U/L) and decreased blood phosphorus levels (0.58 mmol/L). The whole exome sequencing (WES) showed mutation of PHEX gene (NM_000444.6: exon18: c.1853T>G: p.M618R) in the patient and his mother. The patient was finally diagnosed with XLHR. The patient received Ilizarov technique combined with multi-segment osteotomy to correct lower limb deformity. Finally, the patient was able to walk independently and take care of himself without any complications. This may provide a reference for the diagnosis and treatment of XLHR.