{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T14:10:16Z","timestamp":1756476616633,"version":"3.44.0"},"reference-count":5,"publisher":"SMC Media","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Phenylketonuria (PKU), the most common inborn error of amino acid metabolism, has been associated with an increased risk of renal impairment, the reason for which is not fully understood. We report the case of a 33-year-old female patient diagnosed with PKU in adulthood after suspicion of the disease in her daughter. The diagnostic approach revealed proteinuria, and minimal change disease (MCD) was identified. Therapeutic measures and follow-up are discussed. The possible link between these two disorders is interesting. Attenuated developmental delay of untreated PKU could be explained by the decreased accumulation of phenylalanine secondary to proteinuria. On the other hand, MCD may be a possible, although as yet unreported, pathophysiological mechanism explaining the renal repercussions that have been found in adult PKU patients, who should be screened for proteinuria.<\/jats:p>","DOI":"10.12890\/2020_001821","type":"journal-article","created":{"date-parts":[[2021,5,25]],"date-time":"2021-05-25T09:52:37Z","timestamp":1621936357000},"source":"Crossref","is-referenced-by-count":1,"title":["Minimal Change Disease and Phenylketonuria in an Adult Patient: The Two Sides of Protein Homeostasis"],"prefix":"10.12890","volume":"7","author":[{"given":"Cristina Pires","family":"Correia","sequence":"first","affiliation":[{"name":"Internal Medicine Department, Centro Hospitalar S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"In\u00eas","family":"Neves","sequence":"first","affiliation":[{"name":"Internal Medicine Department, Centro Hospitalar S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Paulo","family":"Chaves","sequence":"first","affiliation":[{"name":"Internal Medicine Department, Centro Hospitalar S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Teresa","family":"Cardoso","sequence":"first","affiliation":[{"name":"Internal Medicine Department, Centro Hospitalar S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Roberto","family":"Silva","sequence":"first","affiliation":[{"name":"Internal Medicine Department, Centro Hospitalar S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Jorge","family":"Almeida","sequence":"first","affiliation":[{"name":"Internal Medicine Department, Centro Hospitalar S\u00e3o Jo\u00e3o, Porto, Portugal"}]}],"member":"10397","published-online":{"date-parts":[[2020,7,31]]},"reference":[{"key":"10.12890\/2020_001821_ref1","doi-asserted-by":"crossref","unstructured":"<li>van Wegberg AMJ, MacDonald A, Ahring K, B\u00e9langer-Quintana A, Blau N, Bosch AM, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. <em>Orphanet J Rare Dis<\/em> 2017;<strong>12<\/strong>:162.<\/li>","DOI":"10.1186\/s13023-017-0685-2"},{"key":"10.12890\/2020_001821_ref2","doi-asserted-by":"crossref","unstructured":"<li>Hennermann JB, Roloff S, Gellermann J, Vollmer I, Windt E, Vetter B, et al. Chronic kidney disease in adolescent and adult patients with phenylketonuria. <em>J Inherit Metab Dis<\/em> 2013;<strong>36<\/strong>:747\u2013756.<\/li>","DOI":"10.1007\/s10545-012-9548-0"},{"key":"10.12890\/2020_001821_ref3","doi-asserted-by":"crossref","unstructured":"<li>Burton BK, Bradford Jones K, Cederbaum S, Rohr F. Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria. <em>Mol Genet Metab<\/em> 2018:<strong>125<\/strong>;228\u2013234.<\/li>","DOI":"10.1016\/j.ymgme.2018.09.006"},{"key":"10.12890\/2020_001821_ref4","doi-asserted-by":"crossref","unstructured":"<li> Vivarelli M, Massella L, Ruggiero B, Emma F. Minimal change disease. <em>Clin J Am Soc Nephrol<\/em> 2017;<strong>12<\/strong>:332.<\/li>","DOI":"10.2215\/CJN.05000516"},{"key":"10.12890\/2020_001821_ref5","doi-asserted-by":"crossref","unstructured":"<li> Lee H, Yoo KD, Oh YK, Kim DK, Oh KH, Joo KW, et al. Predictors of relapse in adult-onset nephrotic minimal change disease. <em>Medicine (Baltimore)<\/em> 2016;<strong>95<\/strong>(12):e3179.<\/li>","DOI":"10.1097\/MD.0000000000003179"}],"container-title":["European Journal of Case Reports in Internal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/1821\/2273","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/1821\/2274","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/1821\/2274","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T13:35:25Z","timestamp":1756474525000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/view\/1821"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,31]]},"references-count":5,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2020]]}},"URL":"https:\/\/doi.org\/10.12890\/2020_001821","relation":{"has-manifestation":[{"id-type":"other","id":"1-63-1821-g2273","asserted-by":"subject"},{"id-type":"other","id":"1-63-1821-g2274","asserted-by":"subject"}],"is-part-of":[{"id-type":"other","id":"1-63","asserted-by":"subject"}]},"ISSN":["2284-2594"],"issn-type":[{"type":"electronic","value":"2284-2594"}],"subject":[],"published":{"date-parts":[[2020,7,31]]}}}