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x-linked ichthyosis and kidney failure

Hiro Matsukura, Tatsuya Fuchizawa, Akio Ohtsuki, Hiroyuki Higashiyama, Osamu Higuchi, Akira Higuchi, Toshio Miyawaki
We describe an 8-year-old boy who presented with steroid-resistant nephrotic syndrome (SRNS) associated with X-linked ichthyosis (XLI). At birth, the patient exhibited scaly skin, cryptorchidism, and steroid sulfatase (STS) deficiency. DNA analysis showed deletion of exons 1-10 of the STS gene. Proteinuria developed at 6 years and was resistant to steroid therapy. Kidney biopsy findings prior to steroid therapy were compatible with minimal change nephrotic syndrome. By immunofluorescence, glomerular basement membranes exhibited diffuse linear staining for the alpha5 chain of collagen IV, making X-linked Alport syndrome an unlikely explanation for the association of SRNS and ichthyosis...
March 2003: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
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