Dent's disease: An hereditary nephrolithiasis caused by dysfunction of a voltage-gated chloride channel
作者： Christoph Fahlke
DOI: 10.1016/B978-044450489-0/50012-4
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摘要: Publisher Summary Dent's disease is an inherited human kidney associated with low-weight proteinuria, hypercalciuria, and nephrolithiasis. The caused by the dysfunctioning of a gene encoding kidney-specific chloride channel (CIC-5) that member CIC-family. chapter discusses CIC family voltage-gated channels functional characterization CLCN5 product. CIC-5 believed to be intracellular in ecsosomes proximal tubule necessary for pH adjustment these cell organelles. Its dysfunction causes defective rebsorptive protein endocytosis tubule. This because either alteration or general cells. results excretion increased level calcium urine hypercalciuria describes clinical features, genetics, pathophysiology, therapy. X-linked recessive nephrolithiasis described following diagnostic criteria: dysfunction, decreased urinary concentration, renal failure, osteomalacia rickets..
sci-hub.se 参考文章(57)
Mark A. Pook, Oliver Wrong, Carol Wooding, Anthony G.W. Norden, Terry G. Feest, Rajesh V. Thakker, Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22 Human Molecular Genetics. ,vol. 2, pp. 2129- 2134 ,(1993) , 10.1093/HMG/2.12.2129
William W. Reenstra, Ivan Sabolic, Hae Rahn Bae, A. S. Verkman, Protein kinase A dependent membrane protein phosphorylation and chloride conductance in endosomal vesicles from kidney cortex. Biochemistry. ,vol. 31, pp. 175- 181 ,(1992) , 10.1021/BI00116A026
T J Jentsch, W Günther, M Pusch, B Schwappach, Properties of voltage-gated chloride channels of the ClC gene family. The Journal of Physiology. ,vol. 482, pp. 19- 25 ,(1995) , 10.1113/JPHYSIOL.1995.SP020560
Naoko Akuta, Sarah E. Lloyd, Takashi Igarashi, Hiroshi Shiraga, Takeshi Matsuyama, Seitarou Yokoro, Jeremy P.D. Cox, Rajesh V. Thakker, Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. Kidney International. ,vol. 52, pp. 911- 916 ,(1997) , 10.1038/KI.1997.412
SIMON E. FISHER, INGE VANBAKEL, SARAH E. LLOYD, SIMON H.S. PEARCE, RAJESH V. THAKKER, IAN W. CRAIG, Cloning and Characterization of CLCN5, the Human Kidney Chloride Channel Gene Implicated in Dent Disease (an X-Linked Hereditary Nephrolithiasis) Genomics. ,vol. 29, pp. 598- 606 ,(1995) , 10.1006/GENO.1995.9960
Thomas J. Jentsch, Klaus Steinmeyer, Gisela Schwarz, Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes. Nature. ,vol. 348, pp. 510- 514 ,(1990) , 10.1038/348510A0
C. Lorenz, M. Pusch, T. J. Jentsch, Heteromultimeric CLC chloride channels with novel properties Proceedings of the National Academy of Sciences of the United States of America. ,vol. 93, pp. 13362- 13366 ,(1996) , 10.1073/PNAS.93.23.13362
J. H. Poulsen, H. Fischer, B. Illek, T. E. Machen, Bicarbonate conductance and pH regulatory capability of cystic fibrosis transmembrane conductance regulator Proceedings of the National Academy of Sciences of the United States of America. ,vol. 91, pp. 5340- 5344 ,(1994) , 10.1073/PNAS.91.12.5340
Uwe Ludewig, Michael Pusch, Thomas J. Jentsch, Two physically distinct pores in the dimeric ClC-0 chloride channel. Nature. ,vol. 383, pp. 340- 343 ,(1996) , 10.1038/383340A0
Deanne H. Hryciw, Grigori Y. Rychkov, Bernard P. Hughes, Allan H. Bretag, Relevance of the D13 Region to the Function of the Skeletal Muscle Chloride Channel, ClC-1 Journal of Biological Chemistry. ,vol. 273, pp. 4304- 4307 ,(1998) , 10.1074/JBC.273.8.4304