journal1 ›› 2018, Vol. 26 ›› Issue (6): 654-656.DOI: 10.11852/zgetbjzz2018-26-06-20
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Received:
2017-08-09
Online:
2018-06-10
Published:
2018-06-10
刘慧1, 鲁珊1, 王新利1, 焦庆国2, 高芳3
通讯作者:
鲁珊,E-mail:shanlu1010@126.com.
作者简介:
刘慧(1983-),女,山东人,主治医师,博士学位,主要从事儿科疾病临床工作。
CLC Number:
刘慧, 鲁珊, 王新利, 焦庆国, 高芳. 儿童以矮身材为首发表现的假性醛固酮减少症Ⅱ型的临床和分子遗传学研究[J]. 中国儿童保健杂志, 2018, 26(6): 654-656.
[1] Pathare G, Hoenderop JG, Bindels RJ,et al.A molecular update on pseudohypoaldosteronism type Ⅱ[J].Am J Physiol Renal Physiol, 2013, 305(11):F1513-1520. [2] O′Shaughnessy KM.Gordon Syndrome: a continuing story[J].Pediatr Nephrol,2015,30(11):1903-1908. [3] 龚慧,汤正义,宁光.假性醛固酮减少症Ⅱ型的临床和发病机制研究现状[J].国际内科学杂志,2007,34(12):736-739. [4] Ellison DH.Pseudohypoaldosteronism type Ⅱ [M/OL] ∥Paqon RA, Adam MP, Ardinqer HH, et al.Gene Reviews, Seattle:University of Washington, 2017.http://www.genereviews.org. [5] Casas-Alba D, Vila Cots J, Monfort Carretero L, et al.Pseudohypoaldosteronism types I and II: little more than a name in common[J].J Pediatr Endocrinol Metab,2017,30(5):597-601. [6] 龚慧,汤正义.假性醛固酮减少症Ⅱ型临床家系与相应致病基因的研究[D].上海:上海交通大学,2008. [7] 田杰,孙慧超.儿童高血压的临床表现及判断标准[J].中华实用儿科临床杂志,2015,30(13):968-971. [8] Healy JK.Pseudohypoaldosteronism type II: history, arguments, answers, and still some questions[J].Hypertension,2014,63(4):648-654. [9] Nagahara K, Abe Y, Hojo A, et al.Evaluation of Phosphorylated Urinary Na-Cl Cotransporter Is Potentially Useful in a Patient With Pseudohypoaldosteronism Type Ⅱ due to Mutation in CUL3[J].Glob Pediatr Health,2014,1:2333794X14552899. [10] Picard HL, Latreche S, Thurairajasingam N,et al.6C.01: Cullin-3 mutations leading to skipping of exon 9 are responsible for severe cases of familial hyperkalaemic hypertension[J].J Hypertens,2015,33(Suppl 1):e79. |
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