Elektrolytst?rungen als Merkmal monogenetischer Erkrankungen

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• 作者：K. Schr?der ; Prof. Dr. D. Müller
• 关键词：Renale Reabsorption ; Epithelialer Transport ; Bartter ; Syndrom ; Gitelman ; Syndrom ; Pseudohypoaldosteronismus ; Renal reabsorption ; Epithelial transport ; Bartter syndrome ; Gitelman syndrome ; Pseudohypoaldosteronism
• 刊名：Der Internist
• 出版年：2015
• 出版时间：July 2015
• 年：2015
• 卷：56
• 期：7
• 页码：739-744
• 全文大小：564 KB
• 参考文献：1.Acu?a R, Martínez-de-la-Maza L, Ponce-Coria?J et?al (2011) Rare mutations in SLC12A1 and SLC12A3 protect against hypertension by reducing the activity of renal salt cotransporters. J?Hypertens 29:475-83
  2.Bartter FC, Pronove P, Gill JR et?al (1998) Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. 1962. J?Am Soc Nephrol 9:516-28
  3.Birkenhager R, Otto E, Schurmann MJ et?al (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 29:310-14PubMed View Article
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  6.Cruz DN, Simon DB, Nelson-Williams C et?al (2001) Mutations in the Na-Cl cotransporter reduce blood pressure in humans. Hypertension 37:1458-464PubMed View Article
  7.Estevez R, Boettger T, Stein V et?al (2001) Barttin is a Cl-?channel beta-subunit crucial for renal Cl-?reabsorption and inner ear K+?secretion. Nature 414:558-61PubMed View Article
  8.Ji W, Foo JN, O’Roak BJ et?al (2008) Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 40:592-99PubMed Central PubMed View Article
  9.Konrad M, Schaller A, Seelow D et?al (2006) Mutations in the tight-junction gene claudin?19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am J Hum Genet 79:949-57PubMed Central PubMed View Article
  10.Muller D, Kausalya PJ, Claverie-Martin F et?al (2003) A novel claudin?16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting. Am J Hum Genet 73:1293-301PubMed Central PubMed View Article
  11.Muller D, Kausalya PJ, Meij IC et?al (2006) Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel claudin-16 mutant that lacks the entire C-terminal cytosolic tail. Hum Mol Genet 15:1049-058PubMed View Article
  12.Schlingmann KP, Sassen MC, Weber S et?al (2005) Novel TRPM6 mutations in 21?families with primary hypomagnesemia and secondary hypocalcemia. J?Am Soc Nephrol 16:3061-069
  13.Simon DB, Bindra RS, Mansfield TA et?al (1997) Mutations in the chloride channel gene, CLCNKB, cause Bartter’s syndrome type?III. Nat Genet 17:171-78PubMed View Article
  14.Simon DB, Lifton RP (1998) Mutations in Na(K)Cl transporters in Gitelman’s and Bartter’s syndromes. Curr Opin Cell Biol 10:450-54PubMed View Article
  15.Simon DB, Lu Y, Choate KA et?al (1999) Paracellin-1, a renal tight junction protein required for paracellular Mg2+?resorption. Science 285:103-06PubMed View Article
  16.Simon DB, Nelson-Williams C, Bia MJ et?al (1996) Gitelman’s variant of Bartter’s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12:24-0PubMed View Article
  17.Stuiver M, Lainez S, Will C et?al (2011) CNNM2, encoding a basolateral protein required for renal Mg2+?handling, is mutated in dominant hypomagnesemia. Am J Hum Genet 88:333-43PubMed Central PubMed View Article
  18.Xie J, Craig L, Cobb M et?al (2006) Role of with-no-lysine [K] kinases in the pathogenesis of Gordon’s syndrome. Pediatr Nephrol 21:1231-236PubMed View Article
  19.Sawada N, Murata M, Kikuchi K et?al (2003) Tight junctions and human diseases. Med Electron Microsc 36:147-56PubMed View Article
  
• 作者单位：K. Schr?der (1)
  Prof. Dr. D. Müller (1)
  
  1. Klinik für P?diatrie mit Schwerpunkt Nephrologie, Charité -Universit?tsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Deutschland
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Cardiology
  General Practice and Family Medicine
  Internal Medicine
  Gastroenterology
  Hepatology
  Nephrology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-1289

文摘

In daily clinical practice, the term electrolyte generally refers to sodium, potassium, chloride, calcium, and magnesium ions. In addition to their many functions, such as neuronal and muscular transmission, some electrolytes also contribute to osmolality and maintenance of electrochemical gradients, which, in turn enable many transport processes. The absorption and reabsorption of electrolytes occurs via polarized cell assemblies, i.e., epithelia. Besides the intestine (absorption), the most important organ is the kidney. Here, following glomerular filtration, electrolytes are reabsorbed via trans- and paracellular mechanisms along the renal tubular system. In the past, the identification and elucidation of transport-associated monogenetic disorders has contributed tremendously to our understanding of the physiology and pathophysiology of such transport mechanisms. Sodium reabsorption mechanisms along the tubular system have been characterized by means of pharmacological compounds for a long time. However, only with the development of novel molecular genetic tools and approaches has it been possible to clarify the genetic basis of distinct diseases. As examples, we discuss here Bartter and Gitelman syndrome, and other sodium disorders such as pseudohypoaldosteronism and Liddle Syndrome. Diagnosis, clinical presentation, and therapy are briefly described. Furthermore, examples of magnesium homeostasis disorders are also presented, the molecular mechanisms and pathophysiology of which could also be characterized by the identification of different human mutations.