title: Nephrotic syndrome with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis.
abstract: We describe a 10-year-old boy with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis who presented with nephrotic syndrome. DNA analysis revealed deletion of the Steroid Sulfatase (STS) gene. STS deficiency in X-linked ichthyosis leads to cholesterol sulfate accumulation, which induces transglutaminase-1 dysfunction. Since the slit diaphragm of the glomerular epithelial cell is a modified adherens junction, the accumulation of cholesterol sulfate could interfere with the normal slit diaphragm function of the glomerular visceral epithelial cell, resulting in nephrotic range proteinuria. The child went into remission on oral prednisolone.
authors.affiliation: Department of Pediatrics, Maulana Azad Medical College and Associated Lok Nayak Hospital, New Delhi 110 002, India.
authors.forename: Sriram
authors.initials: S
authors.lastname: Krishnamurthy
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor
authors.forename: Sangeeta
authors.initials: S
authors.lastname: Yadav
mesh_terms: D002648:Child; D017353:Gene Deletion; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D017436:Kallmann Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D009404:Nephrotic Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D043266:Steryl-Sulfatase / Q000235:genetics*
chemical_list: D043266:Steryl-Sulfatase