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Homozygosity for a rare FASTKD2 variant resulting in an adult onset autosomal r...

Gonçalves, Francisco Pereira; Tavares, Isabel; Silva, Roberto; Nunes, Ana Teresa; Pereira, Luciano; Campos, Andreia; Pinto, Joel; Lopes, Ana

Mitochondrial cytopathies can have kidney involvement in up to half of cases. Their diagnosis is challenging due to phenotypic variability, lack of noninvasive tests to assess mitochondrial dysfunction, and genetic heterogeneity. We report on a young adult male with hypertrophic cardiomyopathy (HCM) and chronic kidney disease (CKD) with subnephrotic proteinuria who presented to the emergency department with kid...

Date: 2025   |   Origin: Repositório Científico do Instituto Politécnico do Porto
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