Minimal Change Disease and Phenylketonuria in an Adult Patient: The Two Sides of Protein Homeostasis

• Type: Article in International Scientific Journal
• Date: 2020

Authors

Cristina Pires Correia (Author) Other; Inês Neves (Author) Other; Castro-Chaves P (Author) FMUP; Teresa Cardoso (Author) Other; Roberto Silva (Author) Other; Jorge Almeida (Author) Other

Journal

The Journal is awaiting validation by the Administrative Services.

Title: European Journal of Case Reports in Internal Medicine

Vol. 43

Indexing

Scopus

Other information

Authenticus ID: P-00W-BY3

DOI: 10.12890/2020_001821

Abstract (EN): <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>

Language: English

Type (Professor's evaluation): Scientific