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  • Author: Mohamed Al-Dubayee x
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Fahad Al-Juraibah College of Medicine, King Saud bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia
Ministry of National Guard – Health Affairs, Riyadh, Saudi Arabia

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Adnan Al Shaikh College of Medicine, King Saud bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia
Department of Paediatrics, Endocrine Division, Jeddah, Saudi Arabia

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Afaf Al-Sagheir King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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Amir Babiker College of Medicine, King Saud bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia
Ministry of National Guard – Health Affairs, Riyadh, Saudi Arabia

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Asma Al Nuaimi Department of Endocrinology and Diabetes, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates

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Ayed Al Enezi Al Jahra Hospital, Al Jahra, Kuwait

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George S Mikhail Al Jahra Hospital, Al Jahra, Kuwait

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Hassan A Mundi Dubai Hospital, Dubai, United Arab Emirates

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Hubert K Penninckx American Hospital, Dubai, United Arab Emirates

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Huda Mustafa Diabetes and Endocrinology Centre, HealthPlus Network, Abu Dhabi, United Arab Emirates

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Majid Al Ameri Department of Endocrinology and Diabetes, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates

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Mohamed Al-Dubayee College of Medicine, King Saud bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia
Ministry of National Guard – Health Affairs, Riyadh, Saudi Arabia

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Nadia S Ali Dubai Hospital, Dubai, United Arab Emirates

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Nagla Fawzy Al Jahra Hospital, Al Jahra, Kuwait
Faculty of medicine, Sohag University, Egypt

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Sameer Al Shammari Al Jahra Hospital, Al Jahra, Kuwait

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Tarek Fiad Department of Endocrinology and Diabetes, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates

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Summary

X-linked hypophosphatemic rickets (XLH), the most prevalent form of inherited hypophosphatemic rickets, is caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homolog, X-linked (PHEX). This case series presents 14 cases of XLH from Gulf Cooperation Council (GCC) countries. The patients’ medical history, biochemical and radiological investigative findings, as well as treatment responses and side effects from both conventional and burosumab therapy, are described. Cases were aged 2–40 years at diagnosis. There were two male cases and 12 female cases. All cases were treated with conventional therapy which resulted in a lack of improvement in or worsening of the clinical signs and symptoms of rickets or biochemical parameters. Side effects of conventional therapy included nausea, diarrhea, abdominal pain, nephrocalcinosis, and hyperparathyroidism, which affected the patients’ quality of life and adherence to treatment. In the 10 patients treated with burosumab, there was a marked improvement in the biochemical markers of rickets, with a mean increase in serum phosphate of +0.56 mmol/L and tubular maximum phosphate reabsorption (TmP) to glomerular filtration rate (GFR) ratio (TmP/GFR) of +0.39 mmol/L at 12 months compared to baseline. Furthermore, a mean decrease in serum alkaline phosphatase (ALP) of −80.80 IU/L and parathyroid hormone (PTH) of −63.61 pmol/L at 12 months compared to baseline was observed in these patients. Additionally, patients treated with burosumab reported reduced pain, muscle weakness, and fatigue as well as the ability to lead more physically active lives with no significant side effects of treatment.

Learning points

  • Conventional therapy resulted in a suboptimal response, with a lack of improvement of clinical signs and symptoms.

  • Side effects of conventional therapy included nausea, diarrhea, abdominal pain, nephrocalcinosis, and hyperparathyroidism, which affected the patients’ quality of life and adherence to treatment.

  • Burosumab demonstrated marked improvements in the biochemical markers of rickets, in addition to reducing pain, muscle weakness, and fatigue.

  • There were no significant side effects associated with burosumab therapy.

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