論文

査読有り
2021年4月29日

Incidence of complications in 25 adult patients with X-linked hypophosphatemia.

The Journal of Clinical Endocrinology and Metabolism
  • 加藤 創生
  • ,
  • 古家 美菜絵
  • ,
  • 木下 祐加
  • ,
  • Taniguchi Yuki
  • ,
  • Kobayashi Hiroshi
  • ,
  • 福本 誠二
  • ,
  • Nangaku Masaomi
  • ,
  • Makita Noriko
  • ,
  • 伊東 伸朗

106
9
開始ページ
E3682
終了ページ
E3692
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1210/clinem/dgab282

Adults with X-linked hypophosphatemia (XLH) present complications other than osteomalacia. To describe the incidence and severity of comorbidities in adults with XLH. Observational retrospective study. A total of 25 adults with XLH with thorough investigations, including spinal computed tomography scans, X-rays of hip/knee joints and Achilles tendons, abdominal ultrasounds and audiograms. The index of ossification of the anterior/posterior longitudinal ligament and yellow ligament (OA/OP/OY index) and the sum of OA/OP/OY index (OS index) were utilized to evaluate the severity of spinal ligament ossification. The Kellgren-Lawrence (KL) classification was adopted to evaluate the severity of the hip/knee osteophytes. The participants consisted of 13 male patients and 12 female patients from 21 families, with a median age of 43 (range, 18-72) years. In all, 20 patients (80%) showed spinal ligament ossification. The median OA/OP/OY/OS indices were 2 (0-22), 0 (0-15), 6 (0-13) and 12 (0-41), respectively. Hip/knee osteophytes were reported in 24 (96%) and 17 cases (68%). The median KL grade was 3 in the hip joint and 2 in the knee joint, and 18 cases (72%) developed enthesopathy in the Achilles tendon. Nephrocalcinosis and hearing impairment were observed in 18 (72%) and eight (32%) cases. This study revealed a high prevalence and severity of ectopic ossification and disclosed the incidence of nephrocalcinosis and hearing impairment in adults with XLH. In cases with severe spinal ligament ossification or noticeable osteophytes around the hip/knee joints, undiagnosed XLH should be considered as a possible underlying condition.

リンク情報
DOI
https://doi.org/10.1210/clinem/dgab282
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000692625700060&DestApp=WOS_CPL
URL
https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=379806
URL
https://www.ncbi.nlm.nih.gov/pubmed/33912912
ID情報
  • DOI : 10.1210/clinem/dgab282
  • ISSN : 1945-7197
  • eISSN : 1945-7197
  • Web of Science ID : WOS:000692625700060

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