Pseudoxanthoma Elasticum: An Interesting Model to Evaluate Chronic Kidney Disease-Like Vascular Damage without Renal Disease
Background: Pseudoxanthoma elasticum (PXE; OMIM 264800) is an inherited multisystem disorder associated with accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and brush membrane in the eye. Carriers exhibit characteristic lesions in the cardiovascular system, and...
- Autores:
-
D’Marco, Luis
Lima-Martínez, Marcos
Karohl, Cristina
Chacín, Maricarmen
Bermúdez, Valmore
- Tipo de recurso:
- Fecha de publicación:
- 2020
- Institución:
- Universidad Simón Bolívar
- Repositorio:
- Repositorio Digital USB
- Idioma:
- eng
- OAI Identifier:
- oai:bonga.unisimon.edu.co:20.500.12442/5062
- Acceso en línea:
- https://hdl.handle.net/20.500.12442/5062
- Palabra clave:
- Pseudoxanthoma elasticum
Chronic kidney disease
Vascular calcification
Hydroxyapatite
- Rights
- License
- Attribution-NonCommercial-NoDerivatives 4.0 Internacional
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Pseudoxanthoma Elasticum: An Interesting Model to Evaluate Chronic Kidney Disease-Like Vascular Damage without Renal Disease |
| title |
Pseudoxanthoma Elasticum: An Interesting Model to Evaluate Chronic Kidney Disease-Like Vascular Damage without Renal Disease |
| spellingShingle |
Pseudoxanthoma Elasticum: An Interesting Model to Evaluate Chronic Kidney Disease-Like Vascular Damage without Renal Disease Pseudoxanthoma elasticum Chronic kidney disease Vascular calcification Hydroxyapatite |
| title_short |
Pseudoxanthoma Elasticum: An Interesting Model to Evaluate Chronic Kidney Disease-Like Vascular Damage without Renal Disease |
| title_full |
Pseudoxanthoma Elasticum: An Interesting Model to Evaluate Chronic Kidney Disease-Like Vascular Damage without Renal Disease |
| title_fullStr |
Pseudoxanthoma Elasticum: An Interesting Model to Evaluate Chronic Kidney Disease-Like Vascular Damage without Renal Disease |
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Pseudoxanthoma Elasticum: An Interesting Model to Evaluate Chronic Kidney Disease-Like Vascular Damage without Renal Disease |
| title_sort |
Pseudoxanthoma Elasticum: An Interesting Model to Evaluate Chronic Kidney Disease-Like Vascular Damage without Renal Disease |
| dc.creator.fl_str_mv |
D’Marco, Luis Lima-Martínez, Marcos Karohl, Cristina Chacín, Maricarmen Bermúdez, Valmore |
| dc.contributor.author.none.fl_str_mv |
D’Marco, Luis Lima-Martínez, Marcos Karohl, Cristina Chacín, Maricarmen Bermúdez, Valmore |
| dc.subject.eng.fl_str_mv |
Pseudoxanthoma elasticum Chronic kidney disease Vascular calcification Hydroxyapatite |
| topic |
Pseudoxanthoma elasticum Chronic kidney disease Vascular calcification Hydroxyapatite |
| description |
Background: Pseudoxanthoma elasticum (PXE; OMIM 264800) is an inherited multisystem disorder associated with accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and brush membrane in the eye. Carriers exhibit characteristic lesions in the cardiovascular system, and peripheral and coronary arterial disease as well as mitral valvulopathy often present as a cardiovascular feature of this disease. PXE and chronic kidney disease (CKD) share some common patterns in the vascular damage and in therapeutic approaches as well. Summary: To date, treating PXE has focused more on careful follow-up examinations with retinal specialists and cardiologist, avoiding long-term anticoagulation. Like CKD, maintaining a low-calcium diet, increasing dietary magnesium, and administering phosphate binders such as aluminum hydroxide or sevelamer may yield a modest benefit. Recently, 4-phenylbutyrate acid (4-PBA) has demonstrated a maturation of ABCC6 mutant effects into the plasma membrane. Moreover, in a humanized mouse model of PXE, 4-PBA administration restored the physiological function of ABCC6 mutants, resulting in enhanced calcification inhibition and thus a promising strategy for allele-specific therapy of ABCC6-associated calcification disorders. Key Message: Vascular compromise in PXE patients share some components similar to CKD. |
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2020 |
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2020-03-25T00:46:01Z |
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2020-03-25T00:46:01Z |
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2020 |
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article |
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article |
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22969357 |
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https://hdl.handle.net/20.500.12442/5062 |
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22969357 |
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eng |
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eng |
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Attribution-NonCommercial-NoDerivatives 4.0 Internacional |
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pdf |
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Karger Publishers Open Access |
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Kidney Diseases |
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Año 2020 |
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D’Marco, Luisb847abd0-611f-4212-9d68-bf44069a7da7Lima-Martínez, Marcos9fee00f2-7c52-4239-bd7a-51155826b2d2Karohl, Cristina78107de1-b8f9-48b5-ac11-9fb366691126Chacín, Maricarmen5c3b3d7c-4444-47e2-b2be-11f08df10409Bermúdez, Valmore29f9aa18-16a4-4fd3-8ce5-ed94a0b8663a2020-03-25T00:46:01Z2020-03-25T00:46:01Z202022969357https://hdl.handle.net/20.500.12442/5062Background: Pseudoxanthoma elasticum (PXE; OMIM 264800) is an inherited multisystem disorder associated with accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and brush membrane in the eye. Carriers exhibit characteristic lesions in the cardiovascular system, and peripheral and coronary arterial disease as well as mitral valvulopathy often present as a cardiovascular feature of this disease. PXE and chronic kidney disease (CKD) share some common patterns in the vascular damage and in therapeutic approaches as well. Summary: To date, treating PXE has focused more on careful follow-up examinations with retinal specialists and cardiologist, avoiding long-term anticoagulation. Like CKD, maintaining a low-calcium diet, increasing dietary magnesium, and administering phosphate binders such as aluminum hydroxide or sevelamer may yield a modest benefit. Recently, 4-phenylbutyrate acid (4-PBA) has demonstrated a maturation of ABCC6 mutant effects into the plasma membrane. Moreover, in a humanized mouse model of PXE, 4-PBA administration restored the physiological function of ABCC6 mutants, resulting in enhanced calcification inhibition and thus a promising strategy for allele-specific therapy of ABCC6-associated calcification disorders. Key Message: Vascular compromise in PXE patients share some components similar to CKD.pdfengKarger Publishers Open AccessAttribution-NonCommercial-NoDerivatives 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0/http://purl.org/coar/access_right/c_abf2Kidney DiseasesAño 2020https://www.karger.com/Article/Pdf/505026Pseudoxanthoma elasticumChronic kidney diseaseVascular calcificationHydroxyapatitePseudoxanthoma Elasticum: An Interesting Model to Evaluate Chronic Kidney Disease-Like Vascular Damage without Renal Diseasearticlearticlehttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501Mizobuchi M, Towler D, Slatopolsky E. Vascular calcification: the killer of patients with chronic kidney disease. J Am Soc Nephrol. 2009 Jul;20(7):1453–64.Evrard S, Delanaye P, Kamel S, Cristol JP, Cavalier E; SFBC/SN joined working group on vascular calcifications. Vascular calcification: from pathophysiology to biomarkers. Clin Chim Acta. 2015 Jan;438:401–14.Neldner KH. Pseudoxanthoma elasticum. Clin Dermatol. 1988 Jan-Mar;6(1):1–159.Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter [Internet]. Proc Natl Acad Sci USA. 2000 May;97(11):6001–6.Viljoen DL, Pope FM, Beighton P. Heterogeneity of pseudoxanthoma elasticum: delineation of a new form? Clin Genet. 1987 Aug; 32(2):100–5.van Soest S, Swart J, Tijmes N, Sandkuijl LA, Rommers J, Bergen AA. A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1. Genome Res. 1997 Aug;7(8):830–4.Li Q, Jiang Q, Pfendner E, Váradi A, Uitto J. Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp Dermatol. 2009 Jan; 18(1):1–11.Moitra K, Garcia S, Jaldin M, Etoundi C, Cooper D, Roland A, et al. ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy. Int J Mol Sci. 2017 Jul;18(7):E1488Pope FM. Autosomal dominant pseudoxanthoma elasticum. J Med Genet. 1974 Jun; 11(2):152–7.Hu X, Plomp AS, van Soest S, Wijnholds J, de Jong PT, Bergen AA. Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update. Surv Ophthalmol. 2003;48(4): 424–38.Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet. 2005 Dec;42(12):881–92Plomp AS, Hu X, de Jong PT, Bergen AA. Does autosomal dominant pseudoxanthoma elasticum exist? Am J Med Genet A. 2004 May;126A(4):403–12.Jansen RS, Duijst S, Mahakena S, Sommer D, Szeri F, Váradi A, et al. ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report. Arterioscler Thromb Vasc Biol. 2014 Sep;34(9):1985–9Li Q, van de Wetering K, Uitto J. Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development. Am J Pathol. 2019;189(2):216–25Kranenburg G, Visseren FL, de Borst GJ, de Jong PA, Spiering W; SMART studygroup. Arterial stiffening and thickening in patients with pseudoxanthoma elasticum. Atherosclerosis. 2018;270:160–5Lau WL, Liu S, Vaziri ND. Chronic kidney disease results in deficiency of ABCC6, the novel inhibitor of vascular calcification. Am J Nephrol. 2014;40(1):51–5Fernandez KH, Liu V, Swick BL. Nonuremic calciphylaxis associated with histologic changes of pseudoxanthoma elasticum. Am J Dermatopathol. 2013;35(1):106–8Chraïbi R, Ismaili N, Belgnaoui F, Akallal N, Bouhllab J, Senouci K, et al. Pseudoxanthome élastique et néphrocalcinose. Ann Dermatol Venereol. 2007 Oct;134(10 Pt 1):764–6Altay M, Turgut F, Karakurt F, Kaya R, Ecemis Z, Gonen N, et al. Membranoproliferative glomerulonephritis associated with pseudoxanthoma elasticum. Int Urol Nephrol. 2008; 40(4):1099–101.Fabre B, Bayle P, Bazex J, Durand D, Lamant L, Chassaing N. Pseudoxanthoma elasticum and nephrolithiasis. J Eur Acad Dermatol Venereol. 2005 Mar;19(2):212–5Vasudevan B, Shijith KP, Bahal A, Raghav V. Pseudoxanthoma Elasticum with Renal Cortical Calcification. Med J Armed Forces India. 2010 Jul;66(3):272–4.Martin L, Hoppé E, Kauffenstein G, Omarjee L, Navasiolava N, Henni S, et al. Early arterial calcification does not correlate with bone loss in pseudoxanthoma elasticum. Bone. 2017 Oct;103:88–92.Amann K. Media calcification and intima calcification are distinct entities in chronic kidney disease. Clin J Am Soc Nephrol. 2008 Nov;3(6):1599–605.David Smith C, Gavin Bilmen J, Iqbal S, Robey S, Pereira M. Medial artery calcification as an indicator of diabetic peripheral vascular disease. Foot Ankle Int. 2008 Feb;29(2): 185–90.Mendelsohn G, Bulkley BH, Hutchins GM. Cardiovascular manifestations of Pseudoxanthoma elasticum. Arch Pathol Lab Med. 1978 Jun;102(6):298–302Kornet L, Bergen AA, Hoeks AP, Cleutjens JP, Oostra RJ, Daemen MJ, et al. In patients with pseudoxanthoma elasticum a thicker and more elastic carotid artery is associated with elastin fragmentation and proteoglycans accumulation. Ultrasound Med Biol. 2004 Aug; 30(8):1041–8Bartstra JW, de Jong PA, Spiering W. Accelerated peripheral vascular aging in pseudoxanthoma elasticum - proof of concept for arterial calcification-induced cardiovascular disease. Aging (Albany NY). 2019;11(3):1062–4.Leftheriotis G, Kauffenstein G, Hamel JF, Abraham P, Le Saux O, Willoteaux S, et al. The contribution of arterial calcification to peripheral arterial disease in pseudoxanthoma elasticum. PLoS One. 2014;9(5):e96003.Lanzer P, Boehm M, Sorribas V, Thiriet M, Janzen J, Zeller T, et al. Medial vascular calcification revisited: review and perspectives. Eur Heart J. 2014 Jun;35(23):1515–25.Nasir K, Roguin A, Sarwar A, Rumberger JA, Blumenthal RS. Gender differences in coronary arteries and thoracic aorta calcification. Arterioscler Thromb Vasc Biol. 2007 May; 27(5):1220–2Le Boulanger G, Labrèze C, Croué A, Schurgers LJ, Chassaing N, Wittkampf T, et al. An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. Am J Med Genet A. 2010 Jan;152A(1):118–23.Drüeke TB, Massy ZA. Atherosclerosis in CKD: differences from the general population. Nat Rev Nephrol. 2010;6(12):723–35.Germain DP. Pseudoxanthoma elasticum. Orphanet J Rare Dis. 2017 May;12(1):85.Ureña-Torres P, D’Marco L, Raggi P, GarcíaMoll X, Brandenburg V, Mazzaferro S, et al. Valvular heart disease and calcification in CKD: more common than appreciated. Nephrol Dial Transplant. 2019 Jul; Available from: http://www.ncbi.nlm.nih.gov/ pubmed/31326992.Pomozi V, Julian CB, Zoll J, Pham K, Kuo S, Tőkési N, et al. Dietary Pyrophosphate Modulates Calcification in a Mouse Model of Pseudoxanthoma Elasticum: Implication for Treatment of Patients. J Invest Dermatol. 2019 May;139(5):1082–8.Ziegler SG, Ferreira CR, MacFarlane EG, Riddle RC, Tomlinson RE, Chew EY, et al. Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase. Sci Transl Med. 2017 Jun;9(393):eaal1669.O’Neill WC, Sigrist MK, McIntyre CW. Plasma pyrophosphate and vascular calcification in chronic kidney disease. Nephrol Dial Transplant. 2010 Jan;25(1):187–91.Rathan S, Yoganathan AP, O’Neill CW. The role of inorganic pyrophosphate in aortic valve calcification. J Heart Valve Dis. 2014 Jul; 23(4):387–94.Block GA. Therapeutic interventions for chronic kidney disease-mineral and bone disorders : focus on mortality. Curr Opin Nephrol Hypertens. 2011 Jul;20(4):376–381.Raggi P, Chertow GM, Torres PU, Csiky B, Naso A, Nossuli K, et al. The ADVANCE study: A randomized study to evaluate the effects of cinacalcet plus low-dose vitamin D on vascular calcification in patients on hemodialysis. Nephrol Dial Transplant. 2011;26(4): 1327–39.Rattazzi M, Bertacco E, Del Vecchio A, Puato M, Faggin E, Pauletto P. Aortic valve calcification in chronic kidney disease. Nephrol Dial Transplant. 2013;28(12):2968–76.Ruderman I, Holt SG, Hewitson TD, Smith ER, Toussaint ND. Current and potential therapeutic strategies for the management of vascular calcification in patients with chronic kidney disease including those on dialysis. Semin Dial. 2018;31(5):487–99.Sterbakova G, Vyskocil V, Linhartova K. Bisphosphonates in calcific aortic stenosis: association with slower progression in mild disease—a pilot retrospective study. Cardiology. 2010;117(3):184–9.Kranenburg G, de Jong PA, Bartstra JW, Lagerweij SJ, Lam MG, Ossewaarde-van Norel J, et al. Etidronate for Prevention of Ectopic Mineralization in Patients with Pseudoxanthoma Elasticum. J Am Coll Cardiol. 2018 Mar;71(10):1117–26Sakaguchi Y, Hamano T, Isaka Y. Magnesium and Progression of Chronic Kidney Disease: Benefits Beyond Cardiovascular Protection? Adv Chronic Kidney Dis. 2018 May;25(3): 274–80ORIGINALPDF.pdfPDF.pdfPDFapplication/pdf340111https://bonga.unisimon.edu.co/bitstreams/c39f16fc-7e8f-4e86-8234-1d229cca1962/downloadbb34fc627dd650d30665f8609c7d80c9MD51CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8805https://bonga.unisimon.edu.co/bitstreams/cfe18d15-3824-457e-b9da-46685b7c439f/download4460e5956bc1d1639be9ae6146a50347MD52LICENSElicense.txtlicense.txttext/plain; charset=utf-8381https://bonga.unisimon.edu.co/bitstreams/b2a2e56d-e641-43e2-bfbf-77b327e2e4e2/download733bec43a0bf5ade4d97db708e29b185MD53TEXTPseudoxanthoma_Elasticum_Ckd-Like.pdf.txtPseudoxanthoma_Elasticum_Ckd-Like.pdf.txtExtracted texttext/plain31295https://bonga.unisimon.edu.co/bitstreams/9091a214-eb92-4154-a9fd-4077af2dfbda/downloadac1e2e6c7a6d3cc04dc8eaedf249e1c6MD54PDF.pdf.txtPDF.pdf.txtExtracted texttext/plain35149https://bonga.unisimon.edu.co/bitstreams/d6f9ffee-ced9-4951-b715-33714f79ee17/downloadda4c0a6a052cf51a8cf961cf9c23f346MD56THUMBNAILPseudoxanthoma_Elasticum_Ckd-Like.pdf.jpgPseudoxanthoma_Elasticum_Ckd-Like.pdf.jpgGenerated Thumbnailimage/jpeg1760https://bonga.unisimon.edu.co/bitstreams/a671ee5c-d014-46ec-b30c-90ee978ab6fa/download494e62cb5618db6e1aea9350f202fdbfMD55PDF.pdf.jpgPDF.pdf.jpgGenerated Thumbnailimage/jpeg5913https://bonga.unisimon.edu.co/bitstreams/5c394e24-c7f7-4838-b5c9-de9b1ad78076/downloaddb2c68e476aa2c6ec530326f05433f38MD5720.500.12442/5062oai:bonga.unisimon.edu.co:20.500.12442/50622024-08-14 21:52:47.663http://creativecommons.org/licenses/by-nc-nd/4.0/Attribution-NonCommercial-NoDerivatives 4.0 Internacionalopen.accesshttps://bonga.unisimon.edu.coRepositorio Digital Universidad Simón Bolívarrepositorio.digital@unisimon.edu.coPGEgcmVsPSJsaWNlbnNlIiBocmVmPSJodHRwOi8vY3JlYXRpdmVjb21tb25zLm9yZy9saWNlbnNlcy9ieS1uYy80LjAvIj48aW1nIGFsdD0iTGljZW5jaWEgQ3JlYXRpdmUgQ29tbW9ucyIgc3R5bGU9ImJvcmRlci13aWR0aDowO3dpZHRoOjEwMHB4OyIgc3JjPSJodHRwczovL2kuY3JlYXRpdmVjb21tb25zLm9yZy9sL2J5LW5jLzQuMC84OHgzMS5wbmciIC8+PC9hPjxici8+RXN0YSBvYnJhIGVzdMOhIGJham8gdW5hIDxhIHJlbD0ibGljZW5zZSIgaHJlZj0iaHR0cDovL2NyZWF0aXZlY29tbW9ucy5vcmcvbGljZW5zZXMvYnktbmMvNC4wLyI+TGljZW5jaWEgQ3JlYXRpdmUgQ29tbW9ucyBBdHJpYnVjacOzbi1Ob0NvbWVyY2lhbCA0LjAgSW50ZXJuYWNpb25hbDwvYT4u |