Nephronophthisis-like nephritis associated with fibrous dysplasia of bone.

Abstract

Nephronophthisis is a chronic tubulointerstitial nephritis with autosomal recessive inheritance whose evolution to end-stage renal disease is insidious but constant. Fibrous dysplasia of bone is characterized by focal replacement of normal bone and marrow with abnormal bone and fibrous tissue. We report on a young boy initially diagnosed with fibrous dysplasia of bone, who underwent renal investigation because of treatment with pamidronate. He presented with mild proteinuria (albuminuria/creatininuria 19 mg/mmol) and decreased glomerular filtration rate (GFR) (79 ml/min per 1.73 m(2) body surface area) leading to kidney biopsy, which showed nephronophthisis-like lesions, but neither NPHP1 gene deletion nor UMOD (uromodulin) mutation were identified. No association between fibrous dysplasia of bone and nephronophthisis has yet been described. Nephronophthisis-like nephritis associated with fibrous dysplasia of bone might represent a possible new syndrome in the nephronophthisis and medullary cystic kidney disease complex. However, a fortuitous association between these two conditions is also possible.

• Authors: Justine Bacchetta, Roland Chapurlat, Raymonde Bouvier, Corinne Antignac, Laurence Dubourg, Rémi Kohler, Pierre D Delmas, Pierre Cochat
• Journal: Pediatric nephrology (Berlin, Germany) (Pediatr Nephrol) Vol. 23 Issue 9 Pg. 1559-63 (Sep 2008) ISSN: 0931-041X [Print] Germany
• PMID: 18512082 (Publication Type: Case Reports, Journal Article)

Chemical References

• Diphosphonates
• Pamidronate

Topics

• Child
• Diphosphonates (adverse effects)
• Fibrous Dysplasia of Bone (complications, genetics, pathology)
• Humans
• Kidney (pathology)
• Male
• Nephritis (etiology, genetics, pathology)
• Pamidronate