{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T04:53:09Z","timestamp":1791262389388,"version":"4.1.0"},"reference-count":36,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JASN"],"published-print":{"date-parts":[[2018,9]]},"abstract":"\n Background<\/jats:title>\n \n Pseudoxanthoma elasticum (PXE) is a genetic disease caused by mutations in the\n ABCC6<\/jats:italic>\n gene that result in low pyrophosphate levels and subsequent progressive soft tissue calcifications. PXE mainly affects the skin, retina, and arteries. However, many patients with PXE experience kidney stones. We determined the prevalence of this pathology in patients with PXE and examined the possible underlying mechanisms in murine models.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n We conducted a retrospective study in a large cohort of patients with PXE and analyzed urine samples and kidneys from\n Abcc6<\/jats:italic>\n \u2212\/\u2212<\/jats:sup>\n mice at various ages. We used Yasue staining, scanning electron microscopy, electron microscopy coupled to electron energy loss spectroscopy, and Fourier transform infrared microspectroscopy to characterize kidney calcifications.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Among 113 patients with PXE, 45 (40%) had a past medical history of kidney stones. Five of six computed tomography scans performed showed evidence of massive papillary calcifications (Randall plaques).\n Abcc6<\/jats:italic>\n \u2212\/\u2212<\/jats:sup>\n mice spontaneously developed kidney interstitial apatite calcifications with aging. These calcifications appeared specifically at the tip of the papilla and formed Randall plaques similar to those observed in human kidneys. Compared with controls,\n Abcc6<\/jats:italic>\n \u2212\/\u2212<\/jats:sup>\n mice had low urinary excretion of pyrophosphate.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n The frequency of kidney stones and probably, Randall plaque is extremely high in patients with PXE, and\n Abcc6<\/jats:italic>\n \u2212\/\u2212<\/jats:sup>\n mice provide a new and useful model in which to study Randall plaque formation. Our findings also suggest that pyrophosphate administration should be evaluated for the prevention of Randall plaque and kidney stones.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1681\/asn.2017101148","type":"journal-article","created":{"date-parts":[[2018,7,10]],"date-time":"2018-07-10T09:36:16Z","timestamp":1531215376000},"page":"2337-2347","source":"Crossref","is-referenced-by-count":59,"title":["ABCC6 Deficiency Promotes Development of Randall Plaque"],"prefix":"10.1681","volume":"29","clinical-trial-number":[{"clinical-trial-number":"nct01446393","registry":"10.18810\/clinical-trials-gov"}],"author":[{"given":"Emmanuel","family":"Letavernier","sequence":"first","affiliation":[{"name":"Unit\u00e9 Mixte de Recherche S 1155, Sorbonne Universit\u00e9s, Universit\u00e9 Pierre et Marie Curie-Paris 06, Paris, France;"},{"name":"Unit\u00e9 Mixte de Recherche S 1155, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Paris, France;"},{"name":"Department of Physiology, Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Tenon, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4994-8305","authenticated-orcid":false,"given":"Gilles","family":"Kauffenstein","sequence":"additional","affiliation":[{"name":"Institut des maladies mitochondriales, du coeur et des vaisseaux-MITOVASC, Centre National de la Recherche Scientifique 6015, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U1083, Angers University, Angers, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00e9a","family":"Huguet","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Mixte de Recherche S 1155, Sorbonne Universit\u00e9s, Universit\u00e9 Pierre et Marie Curie-Paris 06, Paris, France;"},{"name":"Unit\u00e9 Mixte de Recherche S 1155, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nastassia","family":"Navasiolava","sequence":"additional","affiliation":[{"name":"Department of Dermatology, PseudoXanthoma Elasticum Consultation center, Reference Center for rare skin diseases, Angers University Hospital, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Bouderlique","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Mixte de Recherche S 1155, Sorbonne Universit\u00e9s, Universit\u00e9 Pierre et Marie Curie-Paris 06, Paris, France;"},{"name":"Unit\u00e9 Mixte de Recherche S 1155, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellie","family":"Tang","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Mixte de Recherche S 1155, Sorbonne Universit\u00e9s, Universit\u00e9 Pierre et Marie Curie-Paris 06, Paris, France;"},{"name":"Unit\u00e9 Mixte de Recherche S 1155, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00e9a","family":"Delaitre","sequence":"additional","affiliation":[{"name":"Department of Dermatology, PseudoXanthoma Elasticum Consultation center, Reference Center for rare skin diseases, Angers University Hospital, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Bazin","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Mixte de Recherche 8502, Laboratoire de Physique des Solides, Centre National de la Recherche Scientifique, Universit\u00e9 Paris Sud XI, Orsay, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9053-1723","authenticated-orcid":false,"given":"Marta","family":"de Frutos","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Mixte de Recherche 8502, Laboratoire de Physique des Solides, Centre National de la Recherche Scientifique, Universit\u00e9 Paris Sud XI, Orsay, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5438-6162","authenticated-orcid":false,"given":"Cl\u00e9ment","family":"Gay","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Mixte de Recherche 8502, Laboratoire de Physique des Solides, Centre National de la Recherche Scientifique, Universit\u00e9 Paris Sud XI, Orsay, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00eblle","family":"Perez","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Mixte de Recherche S 1155, Sorbonne Universit\u00e9s, Universit\u00e9 Pierre et Marie Curie-Paris 06, Paris, France;"},{"name":"Unit\u00e9 Mixte de Recherche S 1155, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Christine","family":"Verpont","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Mixte de Recherche S 1155, Sorbonne Universit\u00e9s, Universit\u00e9 Pierre et Marie Curie-Paris 06, Paris, France;"},{"name":"Unit\u00e9 Mixte de Recherche S 1155, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Philippe","family":"Haymann","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Mixte de Recherche S 1155, Sorbonne Universit\u00e9s, Universit\u00e9 Pierre et Marie Curie-Paris 06, Paris, France;"},{"name":"Unit\u00e9 Mixte de Recherche S 1155, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Paris, France;"},{"name":"Department of Physiology, Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Tenon, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viola","family":"Pomozi","sequence":"additional","affiliation":[{"name":"Department of Cell and Molecular Biology, John A. 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