Nephronophthisis-like nephritis associated with fibrous dysplasia of bone.
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.
Bacchetta
Justine
J
Département de Pédiatrie, Centre de référence des maladies rénales rares, Hôpital Edouard-Herriot and Université Claude Bernard-Lyon 1, Lyon, France.
Chapurlat
Roland
R
Bouvier
Raymonde
R
Antignac
Corinne
C
Dubourg
Laurence
L
Kohler
Rémi
R
Delmas
Pierre D
PD
Cochat
Pierre
P
D002648:Child; D004164:Diphosphonates / Q000009:adverse effects; D005357:Fibrous Dysplasia of Bone / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007668:Kidney / Q000473:pathology; D008297:Male; D009393:Nephritis / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D000077268:Pamidronate
D004164:Diphosphonates; D000077268:Pamidronate