Literature DB >> 28580211

Dent disease: Same CLCN5 mutation but different phenotypes in two brothers in China.

Hongwen Zhang1, Fang Wang1, Huijie Xiao1, Yong Yao1.   

Abstract

Dent disease is an X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life, caused by mutations in CLCN5 (Dent disease 1) or OCRL (Dent disease 2) genes, respectively. It presents mainly with hypercalciuria, low-molecular-weight proteinuria, nephrocalcinosis and progressive renal failure. We report here the same CLCN5 mutation but different phenotypes in two Chinese brothers, and speculate on the possible reasons for the variability of the genotype-phenotype correlations.

Entities:  

Keywords:  CLCN5; China; Dent disease; phenotpye

Year:  2017        PMID： 28580211      PMCID： PMC5451742          DOI： 10.5582/irdr.2017.01019

Source DB:  PubMed          Journal:  Intractable Rare Dis Res        ISSN： 2186-3644


  24 in total

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Review 2.  Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

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Journal:  Hum Mutat       Date:  2015-06-11       Impact factor: 4.878

Review 3.  Chloride transporters and receptor-mediated endocytosis in the renal proximal tubule.

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Journal:  J Physiol       Date:  2015-05-11       Impact factor: 5.182

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Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2015-12

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Journal:  N Engl J Med       Date:  1991-09-05       Impact factor: 91.245

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8.  Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?

Authors:  Yaacov Frishberg; Dganit Dinour; Ruth Belostotsky; Rachel Becker-Cohen; Choni Rinat; Sofia Feinstein; Paulina Navon-Elkan; Efrat Ben-Shalom
Journal:  Pediatr Nephrol       Date:  2009-12       Impact factor: 3.714

9.  Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.

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Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150

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Authors:  Franca Anglani; Angela D'Angelo; Luisa Maria Bertizzolo; Enrica Tosetto; Monica Ceol; Daniela Cremasco; Luciana Bonfante; Maria Antonietta Addis; Dorella Del Prete
Journal:  Springerplus       Date:  2015-09-15
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  1 in total

Review 1.  Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.

Authors:  Lisa Gianesello; Dorella Del Prete; Franca Anglani; Lorenzo A Calò
Journal:  Hum Genet       Date:  2020-08-29       Impact factor: 4.132
  1 in total

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