Pires Correia, Cristina and Neves, Inês and Chaves, Paulo and Cardoso, Teresa and Silva, Roberto and Almeida, Jorge (2020) Minimal Change Disease and Phenylketonuria in an Adult Patient: The Two Sides of Protein Homeostasis. European Journal of Case Reports in Internal Medicine, 7 (10). pp. 1-5. ISSN ISSN: 2284-2594
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Abstract
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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | Minimal change disease (MCD), proteinuria, nephrotic syndrome, phenylketonuria (PKU), phenylalanine |
| Subjects: | 600 Tecnologia - Scienze applicate 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) |
| Depositing User: | Marina Spanti |
| Date Deposited: | 15 Dec 2021 13:24 |
| Last Modified: | 15 Dec 2021 13:24 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/21003 |
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