Bacchetta Justine, Chapurlat Roland, Bouvier Raymonde, Antignac Corinne, Dubourg Laurence, Kohler Rémi, Delmas Pierre D, Cochat Pierre
Département de Pédiatrie, Centre de référence des maladies rénales rares, Hôpital Edouard-Herriot and Université Claude Bernard-Lyon 1, Lyon, France.
Pediatr Nephrol. 2008 Sep;23(9):1559-63. doi: 10.1007/s00467-008-0850-x. Epub 2008 May 30.
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.
肾单位肾痨是一种常染色体隐性遗传的慢性肾小管间质性肾炎，其发展至终末期肾病的过程隐匿但持续。骨纤维发育不良的特征是正常骨和骨髓被异常骨和纤维组织局灶性替代。我们报告了一名最初被诊断为骨纤维发育不良的小男孩，他因接受帕米膦酸治疗而接受了肾脏检查。他出现轻度蛋白尿（白蛋白尿/肌酐尿为19毫克/毫摩尔）和肾小球滤过率（GFR）降低（每1.73平方米体表面积为79毫升/分钟），进而接受了肾活检，结果显示有类似肾单位肾痨的病变，但未发现NPHP1基因缺失或UMOD（尿调节蛋白）突变。尚未有骨纤维发育不良与肾单位肾痨之间关联的描述。与骨纤维发育不良相关的类似肾单位肾痨的肾炎可能代表了肾单位肾痨和髓质囊性肾病综合征中一种可能的新综合征。然而，这两种情况之间也可能是偶然关联。
