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: Sriram Krishnamurthy, Seema Kapoor, Sangeeta Yadav
• Journal: Indian pediatrics (Indian Pediatr) Vol. 44 Issue 4 Pg. 301-3 (Apr 2007) ISSN: 0019-6061 [Print] India
• PMID: 17468528 (Publication Type: Case Reports, Journal Article)

Chemical References

• Steryl-Sulfatase

Topics

• Child
• Gene Deletion
• Humans
• Ichthyosis, X-Linked (diagnosis, genetics, pathology)
• Kallmann Syndrome (diagnosis, genetics, pathology)
• Kidney (abnormalities)
• Male
• Nephrotic Syndrome (diagnosis, genetics, pathology)
• Steryl-Sulfatase (genetics)