儿童Gitelman 综合征病例分析
摘要
<正>Gitelman综合征(Gitelman syndrome,GS)是常染色体隐性遗传的肾小管疾病,主要临床表现为长期慢性低钾血症、低镁血症、碱中毒、继发性高肾素高血管紧张素血症,可有四肢乏力、猝倒、便秘等症状,患儿病程长者可出现体格发育迟滞~([1]),肾脏穿刺病理检查可表现为肾小球旁器增生或正常。由于低钾血症的持续存在,在合并呕吐、腹泻时,可出现
引文
[1] Gaur A,Ambey R,Gaur BK.Gitelman′s syndrome:rare presentation with growth retardation[J].Indian J Nephrol,2014,24(1):60-62.
[2] Gitelman HJ,Graham JB,Welt LG.A new familial disorder charaeterized by hypokalemia and hypomagnesemia[J].Trans Assoc Am Physicians,1966,79:221-235.
[3] Riveira Munoz E,Chang Q,Godefroid N,et al.Transcriptional and functional analyses of SLC12A3 mutations:new clues for the pathogenesis of Gitelman syndrome [J].J Am Soc Nephrol,2007,18(4):1271-1283.
[4] Glaudemans B,Yntema HG,San-Cristobal P,et al.Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome[J].Eur J Hum Genet,2012,20(3):263-270.
[5] Koulouridis E,Koulouridis I.Molecular pathophysiology of Barrters and Gitelman′s syndromes[J].World J Pediatr,2015,11(2):113-125.
[6] Knoers NV,Levtchenko EN.Gitelman syndrome[J].Orphanet JRare Dis,2008,3:22.
[7] 王晶晶,毛建华.肾小管疾病的早期诊断[J].中国实用儿科杂志,2018,33(2):113-117.
[8] Lǚ Q,Zhang Y,Song C,et al.A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review[J].J Endocrinol Invest,2016,39(3):333-340.
[9] Groenestege WM,Thébault S,van der Wijst J,et al.Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia[J].J Clin Invest,2007,117(8):2260-2267.
[10] Ashton EJ,Legrand A,Benoit V,et al.Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies[J].Kidney Int,2018,93(4):961-967.
[11] Wang F,Shi C,Cui Y,et al.Mutation profile and treatment of Gitelman syndrome in Chinese patients[J].Clin Exp Nephrol,2017,21(2):293-299.
[12] 邵乐平,逯静茹,郎艳华,等.中国Gitelman综合征患者的基因型、表型分析及随访研究[J].中华内分泌代谢杂志,2017,33(1):40-46.
[13] Lo YF,Nozu K,Iijima K,et al.Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman′s syndrome[J].Clin J Am Soc Nephrol,2011,6(3):630-639.
[14] Lee JW,Lee J,Heo NJ,et al.Mutations in SLC12A3 and CLCNKB and their correlation with clinical phenotype in patients with Gitelman and Gitelman-like Syndrome[J].J Korean Med Sci,2016,31(1):47-54.
[15] Tavira B,Gómez J,Santos F,et al.A labor-and cost-effective non-optical semiconductor(Ion Torrent)next-generation sequencing of the SLC12A3 and CLCNKMB genes in Gitelman′s syndrome patients[J].J Hum Genet,2014,59(7):376-380.
[16] Blanchard A,Bockenhauer D,Bolignano D,et al.Gitelman syndrome:consensus and guidance from a Kidney Disease:Improving Global Outcomes (KDIGO)Controversies Conference[J].Kidney Int,2017,91(1):24-33.
[17] Robinson CM,Karet Frankl FE.Magnesium lactate in the treatment of Gitelman syndrome:patient reported outcomes[J].Nephrol Dial Transplant,2017,32(3):508-512.
[18] Ito Y,Yoshida M,Nakayama M,et al.Eplerenone improved hypokalemia in a patient with Gitelman′s syndrome[J].Intern Med,2012,51(1):83-86.
[19] 王帅,赵磊,张学斌,等.巴特综合征合并股骨近端骨折1例[J].河北医科大学学报,2012,33(3):292,295.
[20] Calò LA,Marchini F,Davis PA,et al.Kidney transplant in Gitelman′s syndrome report of the first case[J].J Nephrol,2003,16(1):144-147.
[2] Gitelman HJ,Graham JB,Welt LG.A new familial disorder charaeterized by hypokalemia and hypomagnesemia[J].Trans Assoc Am Physicians,1966,79:221-235.
[3] Riveira Munoz E,Chang Q,Godefroid N,et al.Transcriptional and functional analyses of SLC12A3 mutations:new clues for the pathogenesis of Gitelman syndrome [J].J Am Soc Nephrol,2007,18(4):1271-1283.
[4] Glaudemans B,Yntema HG,San-Cristobal P,et al.Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome[J].Eur J Hum Genet,2012,20(3):263-270.
[5] Koulouridis E,Koulouridis I.Molecular pathophysiology of Barrters and Gitelman′s syndromes[J].World J Pediatr,2015,11(2):113-125.
[6] Knoers NV,Levtchenko EN.Gitelman syndrome[J].Orphanet JRare Dis,2008,3:22.
[7] 王晶晶,毛建华.肾小管疾病的早期诊断[J].中国实用儿科杂志,2018,33(2):113-117.
[8] Lǚ Q,Zhang Y,Song C,et al.A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review[J].J Endocrinol Invest,2016,39(3):333-340.
[9] Groenestege WM,Thébault S,van der Wijst J,et al.Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia[J].J Clin Invest,2007,117(8):2260-2267.
[10] Ashton EJ,Legrand A,Benoit V,et al.Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies[J].Kidney Int,2018,93(4):961-967.
[11] Wang F,Shi C,Cui Y,et al.Mutation profile and treatment of Gitelman syndrome in Chinese patients[J].Clin Exp Nephrol,2017,21(2):293-299.
[12] 邵乐平,逯静茹,郎艳华,等.中国Gitelman综合征患者的基因型、表型分析及随访研究[J].中华内分泌代谢杂志,2017,33(1):40-46.
[13] Lo YF,Nozu K,Iijima K,et al.Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman′s syndrome[J].Clin J Am Soc Nephrol,2011,6(3):630-639.
[14] Lee JW,Lee J,Heo NJ,et al.Mutations in SLC12A3 and CLCNKB and their correlation with clinical phenotype in patients with Gitelman and Gitelman-like Syndrome[J].J Korean Med Sci,2016,31(1):47-54.
[15] Tavira B,Gómez J,Santos F,et al.A labor-and cost-effective non-optical semiconductor(Ion Torrent)next-generation sequencing of the SLC12A3 and CLCNKMB genes in Gitelman′s syndrome patients[J].J Hum Genet,2014,59(7):376-380.
[16] Blanchard A,Bockenhauer D,Bolignano D,et al.Gitelman syndrome:consensus and guidance from a Kidney Disease:Improving Global Outcomes (KDIGO)Controversies Conference[J].Kidney Int,2017,91(1):24-33.
[17] Robinson CM,Karet Frankl FE.Magnesium lactate in the treatment of Gitelman syndrome:patient reported outcomes[J].Nephrol Dial Transplant,2017,32(3):508-512.
[18] Ito Y,Yoshida M,Nakayama M,et al.Eplerenone improved hypokalemia in a patient with Gitelman′s syndrome[J].Intern Med,2012,51(1):83-86.
[19] 王帅,赵磊,张学斌,等.巴特综合征合并股骨近端骨折1例[J].河北医科大学学报,2012,33(3):292,295.
[20] Calò LA,Marchini F,Davis PA,et al.Kidney transplant in Gitelman′s syndrome report of the first case[J].J Nephrol,2003,16(1):144-147.