{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:55Z","timestamp":1784557075622,"version":"3.55.0"},"reference-count":26,"publisher":"Bioscientifica","issue":"2","license":[{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,4,1]]},"abstract":"<jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>\n                      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 (\n                      <jats:italic>PHEX<\/jats:italic>\n                      ). This case series presents 14 cases of XLH from Gulf Cooperation Council (GCC) countries. The patients\u2019 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\u201340 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\u2019 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 \u221280.80 IU\/L and parathyroid hormone (PTH) of \u221263.61 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.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>Conventional therapy resulted in a suboptimal response, with a lack of improvement of clinical signs and symptoms.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Side effects of conventional therapy included nausea, diarrhea, abdominal pain, nephrocalcinosis, and hyperparathyroidism, which affected the patients\u2019 quality of life and adherence to treatment.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Burosumab demonstrated marked improvements in the biochemical markers of rickets, in addition to reducing pain, muscle weakness, and fatigue.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>There were no significant side effects associated with burosumab therapy.<\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>","DOI":"10.1530\/edm-23-0098","type":"journal-article","created":{"date-parts":[[2024,4,11]],"date-time":"2024-04-11T08:54:51Z","timestamp":1712825691000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":3,"title":["Experience of X-linked hypophosphatemic rickets in the Gulf Cooperation Council countries: case series"],"prefix":"10.1530","volume":"2024","author":[{"given":"Fahad","family":"Al-Juraibah","sequence":"first","affiliation":[{"name":"College of Medicine, King Saud bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia"},{"name":"Ministry of National Guard \u2013 Health Affairs, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adnan","family":"Al Shaikh","sequence":"additional","affiliation":[{"name":"College of Medicine, King Saud bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia"},{"name":"Department of Paediatrics, Endocrine Division, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1844-4377","authenticated-orcid":true,"given":"Afaf","family":"Al-Sagheir","sequence":"additional","affiliation":[{"name":"King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7538-852X","authenticated-orcid":true,"given":"Amir","family":"Babiker","sequence":"additional","affiliation":[{"name":"College of Medicine, King Saud bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia"},{"name":"Ministry of National Guard \u2013 Health Affairs, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asma","family":"Al Nuaimi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayed","family":"Al Enezi","sequence":"additional","affiliation":[{"name":"Al Jahra Hospital, Al Jahra, Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George S","family":"Mikhail","sequence":"additional","affiliation":[{"name":"Al Jahra Hospital, Al Jahra, Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassan A","family":"Mundi","sequence":"additional","affiliation":[{"name":"Dubai Hospital, Dubai, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hubert K","family":"Penninckx","sequence":"additional","affiliation":[{"name":"American Hospital, Dubai, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huda","family":"Mustafa","sequence":"additional","affiliation":[{"name":"Diabetes and Endocrinology Centre, HealthPlus Network, Abu Dhabi, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Al Ameri","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Al-Dubayee","sequence":"additional","affiliation":[{"name":"College of Medicine, King Saud bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia"},{"name":"Ministry of National Guard \u2013 Health Affairs, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia S","family":"Ali","sequence":"additional","affiliation":[{"name":"Dubai Hospital, Dubai, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nagla","family":"Fawzy","sequence":"additional","affiliation":[{"name":"Al Jahra Hospital, Al Jahra, Kuwait"},{"name":"Faculty of medicine, Sohag University, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sameer","family":"Al Shammari","sequence":"additional","affiliation":[{"name":"Al Jahra Hospital, Al Jahra, Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarek","family":"Fiad","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Human Genome Variation","first-page":"9","article-title":"A novel PHEX mutation associated with vitamin D-resistant rickets","volume":"6","author":"Sako","year":"2019","unstructured":"Sako SNiida YShima KRTakeshita YIshii KA & Takamura T. A novel PHEX mutation associated with vitamin D-resistant rickets. Human Genome Variation201969. (https:\/\/doi.org\/10.1038\/s41439-019-0040-3)"},{"key":"bib2","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"e871","article-title":"Prevalence and mortality of individuals with X-linked hypophosphatemia: A United Kingdom real-world data analysis","volume":"105","author":"Hawley","year":"2020","unstructured":"Hawley SShaw NJDelmestri APrieto-Alhambra DCooper CPinedo-Villanueva R & Javaid MK. Prevalence and mortality of individuals with X-linked hypophosphatemia: A United Kingdom real-world data analysis. Journal of Clinical Endocrinology and Metabolism2020105e871\u2013e878. 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(https:\/\/doi.org\/10.1186\/s13023-016-0538-4)"},{"key":"bib10","series-title":"Quality of Life Research","first-page":"1883","article-title":"Exploring the burden of X-linked hypophosphatemia: a European multi-country qualitative study","volume":"29","author":"Lo","year":"2020","unstructured":"Lo SHLachmann RWilliams APiglowska N & Lloyd AJ. Exploring the burden of X-linked hypophosphatemia: a European multi-country qualitative study. Quality of Life Research2020291883\u20131893. (https:\/\/doi.org\/10.1007\/s11136-020-02465-x)"},{"key":"bib11","series-title":"Archives of Osteoporosis","first-page":"52","article-title":"Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries","volume":"16","author":"Al Juraibah","year":"2021","unstructured":"Al Juraibah FAl Amiri EAl Dubayee MAl Jubeh JAl Kandari HAl Sagheir AAl Shaikh ABeshyah SADeeb AHabeb A, et al.Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries. Archives of Osteoporosis20211652. (https:\/\/doi.org\/10.1007\/s11657-021-00879-9)"},{"key":"bib12","series-title":"CRYSViTA Prescribing Information","year":"2018","unstructured":"Kyowa Kirin Co. Ltd.CRYSViTA Prescribing Information2018."},{"key":"bib13","series-title":"Lancet. Diabetes and Endocrinology","first-page":"189","article-title":"Efficacy and safety of burosumab in children aged 1\u20134 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial","volume":"7","author":"Whyte","year":"2019","unstructured":"Whyte MPCarpenter TOGottesman GSMao MSkrinar ASan Martin J & Imel EA. Efficacy and safety of burosumab in children aged 1\u20134 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial. Lancet. Diabetes and Endocrinology20197189\u2013199. 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Complications of phosphate and vitamin D treatment in X-linked hypophosphataemia. Advances in Therapy202037(Supplement 2) 105\u2013112. (https:\/\/doi.org\/10.1007\/s12325-019-01170-7)"},{"key":"bib19","series-title":"Danish Medical Journal","first-page":"A4874","article-title":"Treatment of hypophosphataemic rickets in children remains a challenge","volume":"61","author":"Nielsen","year":"2014","unstructured":"Nielsen LHRahbek ETBeck-Nielsen SS & Christesen HT. Treatment of hypophosphataemic rickets in children remains a challenge. Danish Medical Journal201461A4874."},{"key":"bib20","series-title":"Journal of Bone and Mineral Research","first-page":"583","article-title":"X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy","volume":"7","author":"Petersen","year":"1992","unstructured":"Petersen DJBoniface AMSchranck FWRupich RC & Whyte MP. 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(https:\/\/doi.org\/10.1055\/s-0040-1721400)"},{"key":"bib22","series-title":"Lancet","first-page":"2416","article-title":"Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial","volume":"393","author":"Imel","year":"2019","unstructured":"Imel EAGlorieux FHWhyte MPMunns CFWard LMNilsson OSimmons JHPadidela RNamba NCheong HI, et al.Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial. Lancet20193932416\u20132427. 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(https:\/\/doi.org\/10.1007\/s00223-020-00797-x)"},{"key":"bib26","series-title":"Endocrine Connections","first-page":"1051","article-title":"Clinical guidelines for burosumab in the treatment of XLH in children and adolescents: British paediatric and adolescent bone group recommendations","volume":"9","author":"Padidela","year":"2020","unstructured":"Padidela RCheung MSSaraff V & Dharmaraj P. Clinical guidelines for burosumab in the treatment of XLH in children and adolescents: British paediatric and adolescent bone group recommendations. Endocrine Connections202091051\u20131056. 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