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婴儿型低磷酸酶血症1例报告

One case report of infantile hypophosphatasia
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摘要 低磷酸酶血症(hypophosphatasia,HPP)由Rathbun在1948年首次提出;。它主要是由组织非特异性碱性磷酸酶(tissue non-specific alkaline phosphatase,TNSALP)活性减低引起钙磷代谢异常,从而导致骨骼或牙齿矿化障碍的遗传代谢性疾病,也可出现癫痫、肌无力等症状。TNSALP由ALPL (the liver/bone/kidney alkaline phosphatase gene)基因编码,该基因的致病变异常导致TNSALP活性改变.
作者 李志 陈雪峰 董关萍 周雪莲 楼金玕 方优红 傅君芬 吴蔚 LI Zhi;CHEN Xue-feng;DONG Guan-ping
机构地区 浙江大学医学院附属儿童医院
出处 《中国实用儿科杂志》 CSCD 北大核心 2022年第3期236-240,共5页 Chinese Journal of Practical Pediatrics
关键词 低磷酸酶血症 ALPL 组织非特异性碱性磷酸酶 hypophosphatasia ALPL tissue non-specific alkaline phosphatase
分类号 R72 [医药卫生—儿科]
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  • 1Mornet E. Hypophosphatasia. Orphanet J Rare Dis, 2007,2:40.
  • 2Hollis A, Arundel P, High A, et al. Current concepts inhypophosphatasia : case report and literature review. Int J PaediatrDent,2013,23: 153-159.
  • 3Baumgartner-Sigl S,Haberlandt E,Mumm S,et al. Pyridoxine-responsive seizures as the first symptom of infantilehypophosphatasia caused by two novel missense mutations(c. 677T>C, p. M226T; c. 1112C >T, p. T371I) of the tissue-nonspecific alkaline phosphatase gene. Bone, 2007 , 40 : 1655-1661.
  • 4Brun-Heath I,Lia-Baldini AS, Maillard S,et al. Delayedtransport of tissue-nonspecific alkaline phosphatase with missensemutations causing hypophosphatasia. Eur J Med Genet, 2007 ,50 :367-378.
  • 5Hofmann C, Liese J, Schwarz T,et al. Compound heterozygosityof two functional null mutations in the ALPL gene associated withdeleterious neurological outcome in an infant withhypophosphatasia. Bone, 2013 ,55 : 150-157.
  • 6Watanabe H, Hashimoto-Uoshima M, Goseki-Sone M, et al. Anovel point mutation ( C571T) in the tissue-non-specific alkalinephosphatase gene in a case of adult-type hypophosphatasia. OralDis,2001,7:331-335.
  • 7Barvencik F, Gebauer M, Schinke T, et al. Case report: multiplefractures in a patient with mutations of TWIST1 and TNSALP. ClinOrthop Relat Res, 2008,466:990-996.
  • 8Wyckoff MH,El~Turk C,Laptook A,et al. Neonatal lethalosteochondrodysplasia with low serum levels of alkalinephosphatase and osteocalcin. J Clin Endocrinol Metab, 2005 ,90 :1233-1240.
  • 9Foster BL, Nagatomo KJ, Tso HW, et al. Tooth root dentinmineralization defects in a mouse model of hypophosphatasia.J Bone Miner Res, 2013,28: 271 -282.
  • 10Whyte MP, Essmyer K, Geimer M, et al. Homozygosity forTNSALP mutation 1348 c > T ( Arg433Cys ) causes infantilehypophosphatasia manifesting transient disease correction andvariably lethal outcome in a kindred of black ancestry. J Pediatr,2006,148:753-758.

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中国实用儿科杂志
2022年 第3期

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