Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries

• DOI: 10.1007/s11657-021-00879-9
• Publication Date: 2021-03-04T04:42:05Z
• Authors: Fahad Al Juraibah; Elham Al Amiri; Mohammed Al Dubayee; Jamal Al Jubeh; Hessa Al Kandari; Afaf Al Sagheir; Adnan Al Shaikh; Salem A. Beshyah; Asma Deeb; Abdelhadi Habeb; Manal Mustafa; Hanaa Zidan; M. Zulf Mughal
• Keywords: Hypophosphatemia; Osteomalacia; Hypophosphatemic Rickets; PHEX

X-linked hypophosphatemia (XLH) is a rare inherited cause of hypophosphatemic rickets and osteomalacia. It caused by mutations in the phosphate-regulating endopeptidase homolog, (PHEX). This results increased plasma fibroblast growth factor-23 (FGF23), which leads to loss renal sodium-phosphate co-transporter expression leading chronic phosphate excretion. also low serum 1,25-dihydroxyvitamin D (1,25(OH)2D), resulting impaired intestinal absorption. Chronic XLH endochondral mineralization plates long bones with bony deformities. children adolescents causes growth, myopathy, bone pain, dental abscesses. most frequent phosphopenic rickets/osteomalacia. Hypophosphatemia found calcipenic rickets/osteomalacia as result secondary hyperparathyroidism. Thus, common etiologic factor all types rickets.There considerable overlap between symptoms signs Wrong diagnosis inappropriate treatment Nutritional osteomalacia are Gulf Cooperation Council countries include Saudi Arabia, United Arab Emirates, Kuwait, Qatar, Bahrain, Oman. Due high levels consanguinity region, genetic common.This guideline was developed provide an approach XLH, especially where there no family history disease, that other related conditions not mistaken for XLH. We guide medical management conventional burosumab, recombinant human IgG1 monoclonal antibody FGF23.