A 30-year-old woman was admitted to the nephrology ward for the evaluation of chronic kidney disease (CKD) of unexplained cause (CKDx), initially raising concern for Fabry disease. She had congenital sensorineural hearing loss and received bilateral cochlear implant surgery at the ages of 13 and 26 years, respectively, and long-standing, unexplained lactic acidosis.
Growth retardation was reported at the age of 5 years. At 15 years, she was diagnosed with primary ovarian failure and insulin resistance.
Kidney International published a clinical update in Research Highlights on 18 Mar 2026.
The item focuses on Perrault syndrome unmasked: genomic reclassification of a Fabry-like CKDx phenotype.
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