Nephrotic syndrome with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis.
Indian Pediatr
;
2007 Apr; 44(4): 301-3
Article
Dans Anglais
| IMSEAR
| ID: sea-12330
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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Humains
/
Mâle
/
Enfant
/
Ichtyose liée à l'X
/
Syndrome de Kallmann
/
Délétion de gène
/
Steryl-Sulfatase
/
Rein
/
Syndrome néphrotique
langue:
Anglais
Texte intégral:
Indian Pediatr
Année:
2007
Type:
Article
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