A bedridden young lady with hypophosphatemic rickets treated with denosumab: a case report

Abstract

Abstract Background Hypophosphatemic rickets is associated with delayed walking, bone deformities, growth failure and physical dysfunction that can limit daily activities. Treatment consists of phosphate salts and calcitriol. We report a case that received denosumab with marked improvement in her condition. Case presentation A 24-year-old Yemeni female with hypophosphatemic rickets presented to an endocrinologist with severe weakness and severe pain in the extremities, she had been bedridden for the last 4 years. Bone density showed severe osteoporosis (T score of hip was − 5.0 and Z score of hip was − 5.0, T score of the spine was − 6.0 and Z score of the spine was − 6.1) so the patient was started on denosumab in addition to calcitriol and after 7months she was feeling stronger and felt she could stand assisted and was walking with assistance within 9 months and after 1.5 years of treatment she was walking unassisted. Conclusion Denosumab is an effective treatment for osteoporosis, we used it in our patient in addition to calcitriol because she had severe osteoporosis due to long standing hypophosphatemic rickets that had not been treated properly, the patient improved markedly and regained the ability to walk again after being bedridden for 4 years. It may be a drug to consider in such cases although further studies need to be done to confirm this.

Keywords

• Hypophosphatemic rickets
• Denosumab
• Osteomalacia
• Hyperparathyroidism
• Osteoporosis
• Case report