293 Individuals with pseudoxanthoma elasticum have a significantly increased incidence of kidney stones

Kidney stone disease (nephrolithiasis) has an incidence of 9.2% in the general U.S. population above the age of 20, according to a cumulative analysis of the National Health and Nutrition Examination Survey (NHANES) from 2007-2016. Pseudoxanthoma elasticum (PXE), a genetic disorder caused by inactivating mutations in the ABCC6 gene, is characterized by progressive calcification of connective tissues in the skin, blood vessels, and retina. Two sisters, aged 11 and 13 years, presented with skin lesions characteristic of PXE, and histopathology of the lesions revealed mineral deposition in the reticular dermis, confirming the PXE diagnosis.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research