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Version 1
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Adult Presentation of X-Linked Hypophosphatemia
Version 1
: Received: 18 May 2022 / Approved: 19 May 2022 / Online: 19 May 2022 (04:03:47 CEST)
A peer-reviewed article of this Preprint also exists.
Ito, N. Adult Presentation of X-Linked Hypophosphatemia. Endocrines 2022, 3, 375-390. Ito, N. Adult Presentation of X-Linked Hypophosphatemia. Endocrines 2022, 3, 375-390.
Abstract
Adult X-linked hypophosphatemia (XLH) patients present with specific symptoms, including enthesopathies (e.g., ossification of the longitudinal ligament (OPLL), osteophytes around the large joint, and enthesopathy in the Achilles tendon), the development of severe secondary and tertiary hyperparathyroidism (SHPT/THPT) and the subsequent progression of chronic kidney disease (CKD). In addition, these patients exhibit the typical phenotypes of osteomalacia, such as pseudofracture and fracture in weight-bearing bones, odontitis, and tooth abscess. The mechanism underlying enthesopathy development is unknown; however, a common underlying mechanism among XLH and autosomal recessive hypophosphatemic rickets, ARHR1.2, due to mutations in PHEX, DMP1, and ENPP1, is assumed. Clarification of the pathogenesis and drug discovery for this complication is an urgent issue to address, as many adult XLH patients suffer subsequent debilitating nervus symptoms or impingement syndrome, and existing treatments are ineffective. Severe SHPT and THPT are associated with conventional therapy, including active vitamin D and phosphate supplementation, and complicated and careful adjustment of the dosage by experienced clinicians is required to avoid SHPT/THPT. Burosumab is a very effective therapy without risk for the development of SHPT/THPT. However, the indication of this drug should be carefully considered along with the cost-effectiveness, guidelines or recommendations and health care system of each country.
Keywords
X-linked hypophosphatemia; fibroblast growth factor 23; osteomalacia; enthesopathy; secondary hyperparathyroidism; tertiary hyperparathyroidism; chronic kidney disease; oral disease; quality of life; burosumab
Subject
Medicine and Pharmacology, Medicine and Pharmacology
Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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