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01-12-2010 | Nephrology – Case Report

Does retinitis pigmentosa relate with polycystic kidney disease?

Authors: Ismail Koçyigit, Aydin Unal, Ersin Ozaslan, Oktay Oymak, Cengiz Utas

Published in: International Urology and Nephrology | Issue 4/2010

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.

Wołyniec W, Jankowska MM, Król E et al (2008) Current diagnostic evaluation of autosomal dominant polycystic kidney disease. Pol Arch Med Wewn 118:767–773PubMed

Rooryck C, Lacombe D (2008) Bardet-Biedl syndrome. Ann Endocrinol (Paris) 69:463–471

Caridi G, Murer L, Bellantuono R et al (1998) Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. Am J Kidney Dis 32:1059–1062CrossRefPubMed

Pitchon EM, Cachat F, Jacquemont S et al (2007) Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA). Klin Monatsbl Augenheilkd 224:340–343CrossRefPubMed

Mavromatidis K, Sombolos K, Zoumbaridis N et al (1992) Retinitis pigmentosa and aortic regurgitation in a patient with adult polycystic kidney disease. Nephron 60:114–115CrossRefPubMed

Dakalban SA (1969) Hereditary syndrome of congenital retinal blindness, polycystic kidney and maldevelopment of the brain. Am J Ophtalmol 68:1029–1037

Zhao Y, Hong DH, Pawlyk B et al (2003) The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis. Proc Natl Acad Sci USA 100:3965–3970CrossRefPubMed

Liu W, Xu S, Woda C et al (2003) Effect of flow and stretch on the [Ca2+] response of principal and intercalated cells in cortical collecting duct. Am J Physiol Renal Physiol 285:998–1012

Nauli SM, Alenghat FJ, Luo Y et al (2003) Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet 33:129–137CrossRefPubMed

10.

Giamarchi A, Padilla F, Coste B et al (2006) The versatile nature of the calcium-permeable cation channel TRPP2. EMBO Rep 7:787–793CrossRefPubMed

11.

Wang K, Zhao X, Chan S et al (2009) Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol 4:442–449CrossRefPubMed

12.

Wu G, Tian X, Nishimura S et al (2002) Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease. Hum Mol Genet 11:1845–1854CrossRefPubMed

13.

Singla V, Reiter JF (2006) The primary cilium as the cell’s antenna: signaling at a sensory organelle. Science 313:629–633CrossRefPubMed

14.

Davenport JR, Watts AJ, Roper VC et al (2007) Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease. Curr Biol 17:1586–1594CrossRefPubMed

15.

Kuehn EW, Hirt MN, John AK et al (2007) Kidney injury molecule 1 (Kim1) is a novel ciliary molecule and interactor of polycystin 2. Biochem Biophys Res Commun 364:861–866CrossRefPubMed

Title: Does retinitis pigmentosa relate with polycystic kidney disease?
Authors: Ismail Koçyigit
Aydin Unal
Ersin Ozaslan
Oktay Oymak
Cengiz Utas
Publication date: 01-12-2010
Publisher: Springer Netherlands
Published in: International Urology and Nephrology / Issue 4/2010
Print ISSN: 0301-1623
Electronic ISSN: 1573-2584
DOI: https://doi.org/10.1007/s11255-010-9709-8

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