{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:02Z","timestamp":1772160062081,"version":"3.50.1"},"reference-count":51,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,3,25]],"date-time":"2020-03-25T00:00:00Z","timestamp":1585094400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004837","name":"Ministerio de Ciencia e Innovaci\u00f3n","doi-asserted-by":"publisher","award":["EC08\/00236"],"award-info":[{"award-number":["EC08\/00236"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous inherited disease characterized by renal and extrarenal manifestations with progressive fluid\u2010filled cyst development leading to end\u2010stage renal disease. The rate of disease progression in ADPKD exhibits high inter\u2010 and intrafamilial variability suggesting involvement of modifier genes and\/or environmental factors. Renal hypouricemia (RHUC) is an inherited disorder characterized by impaired tubular uric acid transport with severe complications, such as acute kidney injury and chronic kidney disease (CKD). However, the two disorders have distinct and well\u2010delineated genetic, biochemical, and clinical findings. Only a few cases of coexistence of ADPKD and RHUC (type 1) in a single individual have been reported. We report a family with two members: an ADPKD 24\u2010year\u2010old female which presented bilateral renal cysts in utero and hypouricemia since age 5, and her mother with isolated hypouricemia. Next\u2010generation sequencing identified two mutations in two genes\n                    <jats:italic>PKD1<\/jats:italic>\n                    and\n                    <jats:italic>SLC2A9<\/jats:italic>\n                    in this patient and one isolated\n                    <jats:italic>SLC2A9<\/jats:italic>\n                    mutation in her mother, showing RHUC type 2, associated to CKD. The coexistence of these two disorders provides evidence of\n                    <jats:italic>SLC2A9<\/jats:italic>\n                    variant could act as a modifier change, with synergistic actions, that could promote cystogenesis and rapid ADPKD progression. This is the first case of coexistence of\n                    <jats:italic>PKD1<\/jats:italic>\n                    and\n                    <jats:italic>SLC2A9<\/jats:italic>\n                    mutations treated with tolvaptan.\n                  <\/jats:p>","DOI":"10.1111\/cge.13738","type":"journal-article","created":{"date-parts":[[2020,3,13]],"date-time":"2020-03-13T05:13:43Z","timestamp":1584076423000},"page":"857-868","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early\u2010onset and fast cyst progression"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9170-8746","authenticated-orcid":false,"given":"Ram\u00f3n","family":"Peces","sequence":"first","affiliation":[{"name":"Servicio de Nefrolog\u00eda, Hospital Universitario La Paz, IdiPAZ Universidad 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