Nephrotic syndrome with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis (original) (raw)

Indian pediatrics, 2007

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.

Seema Kapoor hasn't uploaded this paper.

Let Seema know you want this paper to be uploaded.

Ask for this paper to be uploaded.