Clinical Analysis Of A Case With X-linked Hypophosphataemia And Literature Review

Objective: To analyse the clinical characteristics of children with XLHR and improve diagnosis and treatment of XLHR.Methods: Analyse the history,clinical manifestation,auxiliary examination and treatment of the XLHR case,and review the relevant literature.Results: The 14 month old male toddler was referred to hospital due to delayed walking and weakness of the lower limbs.The child presented with caput quadratum.Serum phosphorus was lower than the level of age-matched children.The X-ray of lower limbs showed the change of rickets.What is more,his mother had the similar condition.So this child was diagnosed with “hypophosphataemia rickets”.He was treated with activated vitamin D(calcitriol)and phosphate.To improve the linear growth,we used growth hormone as an adjunct therapy.The gene detection showed that the PHEX gene had homozygous deletion in exon 21 and 22.At the last following up,this child was 8-year-old,the height was 115.9cm(<-3SD),the weight was 22kg(-2SD~-3SD).He was presented with bone pain?waddling gait and leg bowing.Conclusion: Hypophosphatemia is result of the imbalance of phosphorus metabolism,which cause disorder of bone mineralization and lead to osteomalacia and rickets.Currently,there is no standard for diagnosis and treatment of XLHR,but the first-line drugs include activated vitamin D and phosphate.Biochemical monitoring should be performed in 3 monthly intervals to avoid complications.We need to know more about XLHR,the most important is to recognise?diagnose and treat earlier,so as to reduce the loss of height.