title: End-stage renal failure in a child with X-linked ichthyosis.
abstract: 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. Despite immunosuppressive therapy together with oral prednisolone, no clinical response was achieved. He rapidly reached end-stage renal failure and finally underwent renal transplantation. We propose that SRNS should be considered as one of the highly variable phenotypes associated with XLI.
authors.affiliation: Department of Pediatrics, Saiseikai Toyama Hospital, 33-1 Kusunoki, 931-8533, Toyama, Japan. saiseikaitoyama@isis.ocn.ne.jp
authors.forename: Hiro
authors.initials: H
authors.lastname: Matsukura
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Fuchizawa
authors.forename: Akio
authors.initials: A
authors.lastname: Ohtsuki
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Higashiyama
authors.forename: Osamu
authors.initials: O
authors.lastname: Higuchi
authors.forename: Akira
authors.initials: A
authors.lastname: Higuchi
authors.forename: Toshio
authors.initials: T
authors.lastname: Miyawaki
mesh_terms: D001706:Biopsy; D002648:Child; D005923:Glomerulosclerosis, Focal Segmental / Q000150:complications / Q000473:pathology / Q000601:surgery; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000150:complications* / Q000235:genetics / Q000473:pathology; D007676:Kidney Failure, Chronic / Q000150:complications* / Q000473:pathology / Q000601:surgery; D016030:Kidney Transplantation; D008297:Male; D043266:Steryl-Sulfatase / Q000235:genetics
chemical_list: D043266:Steryl-Sulfatase