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In a report published in Endocrine Journal, researchers presented data on the disease burden of X-linked hypophosphatemia (XLH) in East Asian patients. According to the study&rsquo;s lead author, Nobuaki Ito, their survey showed that both adult patients and children with XLH still experience a significant burden of disease despite receiving conventional therapies.The investigators utilized an online questionnaire to evaluate the health-related quality of life (HRQoL) and disease complications in Japanese and Korean patients&mdash;or caregivers of patients under 18 years of age&mdash;with XLH. Respondents provided demographic information, family history, diagnostic history, medical history, surgical history, disease-specific clinical symptoms, treatment, medications, and the use of ancillary equipment.According to Ito and the collaborator&rsquo;s report, 100% of children (14/14) and 93.8% of adults (30/32) reported that they were receiving treatment for XLH. &ldquo;However,&rdquo; the authors continued, &ldquo;despite oral phosphate and active vitamin D use, short stature, gait abnormalities, dental conditions, and decreased physical function were reported.&rdquo; Specifically, stapling of the growth plates was reported in 14.3% of children, while adult patients reported &ldquo;high rates of bone pain (59.4%) and joint pain (65.6%).&rdquo; Caregivers also reported symptoms of bone pain (35.7%), and joint pain (35.7%) in children with XLH. Adult respondents often had a history of complications associated with XLH treatments, including impaired renal function (9.5%), nephrocalcinosis (15.6%), hyperparathyroidism (15.6%), and parathyroidectomy (6.3%).Ito and colleagues ultimately concluded that their data demonstrated that &ldquo;patients (both pediatric and adult) continue to have symptoms such as pain, disability, and various complications despite receiving conventional therapies.&rdquo;

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Disease Burden of X-Linked Hypophosphatemia in Japanese and Korean Patients

Nephrology Times

In a report published in Endocrine Journal, researchers presented data on the disease burden of X-linked hypophosphatemia (XLH) in East Asian patients. According to the ...

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