"Every Cloud Has a Silver Lining": How Three Rare Diseases Defend Themselves from COVID-19 and What We Have Learnt from It

Martina Cacciapuoti; Ilaria Caputo; Lucia Federica Stefanelli; Paul A Davis; Federico Nalesso; Lorenzo A Calò

doi:10.3390/clinpract14020048

"Every Cloud Has a Silver Lining": How Three Rare Diseases Defend Themselves from COVID-19 and What We Have Learnt from It

Clin Pract. 2024 Apr 8;14(2):614-618. doi: 10.3390/clinpract14020048.

Authors

Martina Cacciapuoti¹, Ilaria Caputo¹, Lucia Federica Stefanelli¹, Paul A Davis², Federico Nalesso¹, Lorenzo A Calò¹

Affiliations

¹ Nephrology, Dialysis and Transplantation Unit, Department of Medicine, University of Padova, 35128 Padova, Italy.
² Department of Nutrition, University of California, Davis, CA 95616, USA.

Abstract

The process of SARS-CoV-2 infection, responsible for the COVID-19 pandemic, is carried out through different steps, with the interaction between ACE2 and Spike protein (S) being crucial. Besides of that, the acidic environment of endosomes seems to play a relevant role in the virus uptake into cells and its intracellular replication. Patients affected by two rare genetic tubulopathies, Gitelman's and Bartter's Syndromes, and a rare genetic metabolic disease, Fabry Disease, have shown intrinsic protection from SARS-CoV-2 infection and COVID-19 on account of specific intrinsic features that interfere with the virus uptake into cells and its intracellular replication, which will be reported and discussed in this paper, providing interesting insights for present and future research.

Keywords: ACE2; Bartter’s syndrome; COVID-19; Cathepsin-L; Fabry disease; Gitelman’s syndrome.

Grants and funding

This research received no external funding.