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低血磷性佝偻病的诊治进展 被引量:6

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摘要 低血磷性佝偻病/骨软化症(hypophosphatemic rickets/osteomalacia,HR/OM)是由于血磷水平低和活性维生素D生成不足,造成的以骨骼矿化不良,出现骨软化或佝偻病为主要特征的一组疾病,发病率约为1∶2 000。目前研究表明绝大多数患者发病由遗传因素造成,虽然医学界开展了多项研究取得了一定进展,但目前对该病尚无有效根治疗法。本文就低血磷性佝偻病的病理分型、诊断治疗进展进行综述。
出处 《中国儿童保健杂志》 CAS 2015年第5期486-488,共3页 Chinese Journal of Child Health Care
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  • 1Martin A, David V, Quarles LD. Regulation and function of the FGF23/klotho endocrine pathways [J]. Physiol Rev, 2012,92(I) : 131-155.
  • 2Penido MG,Alon US. Hypophosphatemie rickets due to per turbations in renal tubular function[J]. Pediatr Nephrol, 2014,29(3) : 361-373.
  • 3Crowley RK, Kilbane M, King TF, et al. Hungry bone syn- drome and normalisation of renal phosphorus threshold after total parathyroidectomy for tertiary hyperparathyroidism in X-linked hypophosphataemia: a case report [J]. Journal of Medical Case Reports, 2014,8(1) : 84-97.
  • 4Sheen CR,Pilarowski GO,Wang W,et al. Molecular eharac- terisation of the Hyp deletion and an improved assay for its detection[J]. Bone, 2012,50(3) : 592-595.
  • 5Farrow EG, Yu X, Summers LJ, et al. Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) pbenotype in fibrohiast growth actor-23 (Fgf23) knock-in mice[J]. Proc Natl Acad Sci USA, 2011, 108 (46): El146-1155.
  • 6Set0n M,Juppner H. Autosomal dominant hypophosphatemic rickets in an 85 year old woman: characterization of her dis- ease from infancy through adulthood[J]. Bone, 2013,52 (2) : 640-643.
  • 7Myakala K, Motta S, Murer H, et al. Renal-speci[ic and in- ducible depletion of NaPi-IIc/Slc34a3, the eotransporter mu- tated in HHRH,does not affect phosphate or calcium home- ostasis in mice[J]. Am J Physiol Renal Physiol, 2014,306 (8) .. F833-843.
  • 8Turan S, Aydin C, Bereket A,et al. Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anom alies in a kindred with autosoma[ recessive hypophos- phatemia[J]. Bone,2010,46(2) :402-409.
  • 9Levy-Litan V, Hershkovitz E, Avizov L, et al. Autosomal-re-:essive hypophosphatemic rickets is associated with an inac- tivation mutation in the ENPP1 gene[J]. Am J Hum Genet, 2010,86 (2) : 273-278.
  • 10Rafaelsen SH, Raeder H, Fagerheim AK, et al. Exome se queneing reveals FAM20e mutations associated with /'ibro- blast growth factor 23-related hypophosphatemia, dental a- nomalies,and ectopic calcification[J]. J Bone Miner Res , 2013,28(6) :1378- 1385.

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