Fahad Al-Juraibah, Adnan Al Shaikh, Afaf Al-Sagheir, Amir Babiker, Asma Al Nuaimi, Ayed Al Enezi, George S Mikhail, Hassan A Mundi, Hubert K Penninckx, Huda Mustafa, Majid Al Ameri, Mohamed Al-Dubayee, Nadia S Ali, Nagla Fawzy, Sameer Al Shammari, Tarek Fiad
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...
April 1, 2024: Endocrinology, Diabetes & Metabolism Case Reports