Steroid-Resistant Nephrotic Syndrome Associated with Steroid Sulfatase Deficiency—X-Linked Recessive Ichthyosis: A Case Report and Review of Literature
March 2012
in “
European Journal of Pediatrics
”
TLDR A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
The document described a 4.5-year-old boy with steroid-resistant nephrotic syndrome (SRNS) and X-linked recessive ichthyosis (XLI) due to a deficiency in steroid sulfatase (STS). Despite not responding to prednisolone treatment, the patient achieved remission with cyclosporine. A renal biopsy showed minimal change disease, and genetic analysis confirmed an STS gene deletion. The authors proposed that STS deficiency may cause cholesterol sulfate to accumulate, damaging the glomerular epithelial cells and leading to proteinuria. They recommended considering STS deficiency in the diagnosis of nephrotic syndrome and using immunosuppressive therapy for treatment.
