Literature DB >> 20111998

Does retinitis pigmentosa relate with polycystic kidney disease?

Ismail Koçyigit1, Aydin Unal, Ersin Ozaslan, Oktay Oymak, Cengiz Utas.   

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders. A 21-year-old woman presented with temporary visual loss and gross hematuria. Fundoscopy showed retinitis pigmentosa, which was confirmed by electroretinogram. Her serum creatinine concentration was 1.6 mg/dl, and her renal ultrasonography revealed bilateral polycystic kidneys; she was unaware of having this condition. In this patient, there was probably an inherited ciliary defect, which may explain the association of ADPKD and retinitis pigmentosa.

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Year:  2010        PMID： 20111998     DOI： 10.1007/s11255-010-9709-8

Source DB:  PubMed          Journal:  Int Urol Nephrol        ISSN： 0301-1623            Impact factor:   2.370


  15 in total

1.  Effect of flow and stretch on the [Ca2+]i response of principal and intercalated cells in cortical collecting duct.

Authors:  Wen Liu; Shiyun Xu; Craig Woda; Paul Kim; Sheldon Weinbaum; Lisa M Satlin
Journal:  Am J Physiol Renal Physiol       Date:  2003-07-01

2.  Retinitis pigmentosa and aortic regurgitation in a patient with adult polycystic kidney disease.

Authors:  K Mavromatidis; K Sombolos; N Zoumbaridis; T Natse; I Panidou-Kiriakidou; G Hagekostas
Journal:  Nephron       Date:  1992       Impact factor: 2.847

3.  Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease.

Authors:  James R Davenport; Amanda J Watts; Venus C Roper; Mandy J Croyle; Thomas van Groen; J Michael Wyss; Tim R Nagy; Robert A Kesterson; Bradley K Yoder
Journal:  Curr Biol       Date:  2007-09-06       Impact factor: 10.834

4.  Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease.

Authors:  Guanqing Wu; Xin Tian; Sayoko Nishimura; Glen S Markowitz; Vivette D'Agati; Jong Hoon Park; Lili Yao; Li Li; Lin Geng; Hongyu Zhao; Winfried Edelmann; Stefan Somlo
Journal:  Hum Mol Genet       Date:  2002-08-01       Impact factor: 6.150

5.  Kidney injury molecule 1 (Kim1) is a novel ciliary molecule and interactor of polycystin 2.

Authors:  E Wolfgang Kuehn; Marc N Hirt; Anne-K John; Petra Muehlenhardt; Christopher Boehlke; Michael Pütz; Albrecht G Kramer-Zucker; Mikhail Bashkurov; Philipp S van de Weyer; Fruzsina Kotsis; Gerd Walz
Journal:  Biochem Biophys Res Commun       Date:  2007-10-26       Impact factor: 3.575

6.  Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA).

Authors:  E M Pitchon; F Cachat; S Jacquemont; C Hinard; F-X Borruat; D F Schorderet; M A Morris; F L Munier
Journal:  Klin Monbl Augenheilkd       Date:  2007-04       Impact factor: 0.700

7.  Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells.

Authors:  Surya M Nauli; Francis J Alenghat; Ying Luo; Eric Williams; Peter Vassilev; Xiaogang Li; Andrew E H Elia; Weining Lu; Edward M Brown; Stephen J Quinn; Donald E Ingber; Jing Zhou
Journal:  Nat Genet       Date:  2003-01-06       Impact factor: 38.330

Review 8.  [Bardet-Biedl syndrome].

Authors:  C Rooryck; D Lacombe
Journal:  Ann Endocrinol (Paris)       Date:  2008-11-18       Impact factor: 2.478

9.  Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease.

Authors:  Kiarong Wang; Xiao Zhao; Shelly Chan; Onur Cil; Ning He; Xuewen Song; Andrew D Paterson; York Pei
Journal:  Clin J Am Soc Nephrol       Date:  2009-01-21       Impact factor: 8.237

10.  The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis.

Authors:  Yun Zhao; Dong-Hyun Hong; Basil Pawlyk; Guohua Yue; Michael Adamian; Marcin Grynberg; Adam Godzik; Tiansen Li
Journal:  Proc Natl Acad Sci U S A       Date:  2003-03-21       Impact factor: 11.205
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  2 in total

1.  The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.

Authors:  Toby Hurd; Weibin Zhou; Paul Jenkins; Chia-Jen Liu; Anand Swaroop; Hemant Khanna; Jeffrey Martens; Friedhelm Hildebrandt; Ben Margolis
Journal:  Hum Mol Genet       Date:  2010-08-20       Impact factor: 6.150

2.  Serum calcitriol levels in a patient with X-linked hypophosphatemia complicated by autosomal dominant polycystic kidney disease.

Authors:  Satomi Kajita; Takehisa Yamamoto; Naoko Tsugawa; Hirohumi Nakayama; Takuo Kubota; Toshimi Michigami; Keiichi Ozono
Journal:  CEN Case Rep       Date:  2016-10-22
  2 in total

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