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A novel splicing mutation in CLCNKB in a Chinese patient with Bartter syndrome type Ⅲ 被引量:2

A novel splicing mutation in CLCNKB in a Chinese patient with Bartter syndrome type Ⅲ
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摘要 Bartter syndrome type Ⅲ is a Bartter syndrome subtype, which has a group of autosomal-recessive inherited disorders with clinical characteristics such as renal salt wasting, hypokalemic metabolic alkalosis,elevated renin and aldosterone levels, with normal or low blood pressure.1 Unlike other subtypes that often begin in the neonatal period, type Ⅲ, due to mutations in the CLCNKB gene,2-4 is highly variable and usually presents as a "classic" Barrter variant characterized by an onset in early childhood and less severe or absent hypercalciuria and nephrocalcinosis. Bartter syndrome type Ⅲ is a Bartter syndrome subtype, which has a group of autosomal-recessive inherited disorders with clinical characteristics such as renal salt wasting, hypokalemic metabolic alkalosis,elevated renin and aldosterone levels, with normal or low blood pressure.1 Unlike other subtypes that often begin in the neonatal period, type Ⅲ, due to mutations in the CLCNKB gene,2-4 is highly variable and usually presents as a "classic" Barrter variant characterized by an onset in early childhood and less severe or absent hypercalciuria and nephrocalcinosis.
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2010年第21期3151-3153,共3页 中华医学杂志(英文版)
关键词 Bartter syndrome CLCNKB MUTATION Bartter syndrome CLCNKB mutation
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参考文献10

  • 1Bartter FC,PronoveP,Gill JR,MacCardle RC.Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis.A new syndrome.Am J Med 1962; 33:811-828.
  • 2Simon DB,Bindra RS,Mansfield TA,Nelson-Williams C,Mendonca E,Stone R,et al.Mutations in the chloride channel gene,CLCNKB,cause Bartter's syndrome type m.Nat Genet 1997; 17:171-178.
  • 3Konrad M,Vollmer M,Lemmink HH,van den Heuvel LP,Jeck N,Vargas-Poussou R,et al.Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.J Am Soc Nephro12000; 11:1449-1459.
  • 4Rodríguez-Soriano J,Vallo A,Pérez de Nanclares G,BilbaoJR,Casta(n)o L.A founder mutation in the CLCNKB gene causes Bartter syndrome type Ⅲ in Spain.Pediatr Nephrol 2005; 20:891-896.
  • 5Rodríguez-Soriano J.Bartter and related syndromes:the puzzle is almost solved.Pediatr Nephrol 1998; 12:315-327.
  • 6Briet M,Vargas-Poussou R,Lourdel S,Houillier P,Blanchard A.How Bartter's and Gitelman's syndromes,and Dent's disease have provided important insights into the function of three renal chloride channels:CIC-Ka/b and C1C-5.Nephron Physiol 2006; 103:7-13.
  • 7Uchida S.In vivo role of CLC chloride channels in the kidney.Am J Physiol Renal Physiol 2000; 279:F802-F808.
  • 8Fukuyama S,Okudaira S,Yamazato S,Yamazato M,Ohta T.Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis.Kidney Int 2003; 64:808-816.
  • 9Jeck N,Waldegger P,Doroszewicz J,Seyberth H,Waldegger S.A common sequence variation of the CLCNKB gene strongly activates CIC-Kb chloride channel activity.Kidney Int 2004; 65:190-197.
  • 10Reinalter SC,Jeck N,Peters M,Seyberth HW.Pharmacotyping of hypokalaemic salt-losing tubular disorders.Acta Physiol Scand 2004; 181:513-521.

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