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Literature DB >> 15814539

CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease.

Nesrin Besbas¹, Fatih Ozaltin, Nikola Jeck, Hannsjörg Seyberth, Michael Ludwig.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2005 PMID： 15814539 DOI： 10.1093/ndt/gfh799

Source DB: PubMed Journal: Nephrol Dial Transplant ISSN： 0931-0509 Impact factor: 5.992

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15 in total

1. A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5.

Authors: Takayuki Okamoto; Toshihiro Tajima; Tomoya Hirayama; Satoshi Sasaki
Journal: Eur J Pediatr Date: 2011-09-20 Impact factor: 3.183

2. Hypercalciuria in patients with CLCN5 mutations.

Authors: Michael Ludwig; Boris Utsch; Bernd Balluch; Stefan Fründ; Eberhard Kuwertz-Bröking; Arend Bökenkamp
Journal: Pediatr Nephrol Date: 2006-06-29 Impact factor: 3.714

3. A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency.

Authors: Radovan Bogdanović; Markus Draaken; Alma Toromanović; Maja Dordević; Natasa Stajić; Michael Ludwig
Journal: Pediatr Nephrol Date: 2010-08-01 Impact factor: 3.714

Review 4. Genomic medicine for kidney disease.

Authors: Emily E Groopman; Hila Milo Rasouly; Ali G Gharavi
Journal: Nat Rev Nephrol Date: 2018-01-08 Impact factor: 28.314

CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease.

1. A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5.

2. Hypercalciuria in patients with CLCN5 mutations.

3. A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency.

Review 4. Genomic medicine for kidney disease.

Review 5. Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules.

Review 6. Genetic causes of hypercalciuric nephrolithiasis.

7. An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes.

Review 8. The expanding phenotypic spectra of kidney diseases: insights from genetic studies.

Review 9. Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

10. Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene.