Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations.
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations.
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DOI：
10.1007/s10545-018-0147-6
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发表时间：
2018-09
影响因子：
4.2
通讯作者：
Murphy E
中科院分区：
文献类型：
--
作者：
Chesher D;Oddy M;Darbar U;Sayal P;Casey A;Ryan A;Sechi A;Simister C;Waters A;Wedatilake Y;Lachmann RH;Murphy E
X连锁低磷血症（XLH）是导致低磷血症的最常见单基因疾病。本病例综述记录了 59 名成人（19 名男性，40 名女性）XLH 的临床特征和治疗并发症。 XLH与大量的私人突变相关；在该队列中发现了 37 种不同的 PHEX 基因突变，其中 14 种以前从未报道过。需要手术干预（截骨术）的骨科疾病很常见。在 40 岁以上的人群中观察到关节置换术和减压椎板切除术。牙科疾病（63%）、肾钙质沉着症（42%）和听力障碍（14%）也很常见。该疾病的罕见性和大量变异使得很难辨别特定的基因型-表型关系。一种新的治疗方法，即抗 FGF23 抗体，可能会影响该疾病的自然史，目前正在临床试验中进行研究。本文的在线版本 (10.1007/s10545-018-0147-6) 包含补充材料，可供授权用户使用。
X-linked hypophosphatemia (XLH) is the most common monogenic disorder causing hypophosphatemia. This case-note review documents the clinical features and the complications of treatment in 59 adults (19 male, 40 female) with XLH. XLH is associated with a large number of private mutations; 37 different mutations in the PHEX gene were identified in this cohort, 14 of which have not been previously reported. Orthopaedic involvement requiring surgical intervention (osteotomy) was frequent. Joint replacement and decompressive laminectomy were observed in those older than 40 years. Dental disease (63%), nephrocalcinosis (42%), and hearing impairment (14%) were also common. The rarity of the disease and the large number of variants make it difficult to discern specific genotype-phenotype relationships. A new treatment, an anti-FGF23 antibody, that may affect the natural history of the disease is currently being investigated in clinical trials. The online version of this article (10.1007/s10545-018-0147-6) contains supplementary material, which is available to authorized users.
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DOI：
10.2106/00004623-198062070-00010
发表时间：
1980-01-01
影响因子：
5.3
作者：
EVANS, GA;ARULANANTHAM, K;GAGE, JR
通讯作者：
GAGE, JR
影响因子：
14.8
作者：
Kumar, Prateek;Henikoff, Steven;Ng, Pauline C.
通讯作者：
Ng, Pauline C.
影响因子：
--
作者：
Jacobs E;Martinez ME;Buckmeier J;Lance P;May M;Jurutka P
通讯作者：
Jurutka P
影响因子：
6.2
作者：
Carpenter, Thomas O.;Imel, Erik A.;Holm, Ingrid A.;de Beur, Suzanne M. Jan;Insogna, Karl L.
通讯作者：
Insogna, Karl L.
影响因子：
4.2
作者：
Beck-Nielsen, Signe S.;Brusgaard, Klaus;Gram, Jeppe
通讯作者：
Gram, Jeppe