Tagboto S, Carr S, Varghese A, Allen A, Feehally J, Furness P
Leicester General Hospital, Leicester, UK.
Am J Nephrol. 2001 Jan-Feb;21(1):58-62. doi: 10.1159/000046221.
Hermansky-Pudlak syndrome is an uncommon cause of renal dysfunction. Because of the risk of bleeding in this condition, few patients have undergone a renal biopsy. Renal dysfunction has been attributed to the deposition of ceroid pigment in the tubules and interstitial fibrosis. We report a case with renal biopsy findings of ceroid deposition and interstitial fibrosis, but also of mesangial IgA deposition, crescentic glomerulonephritis, and an interstitial lymphocytic infiltrate. Furthermore, perinuclear antineutrophil cytoplasmic antibodies of the IgG subclass were detected in a blood sample. It is well known that ceroid pigment in this syndrome accumulates in monocytes, macrophages and T lymphocytes and it has been suggested that this may affect their function. We suggest that this novel combination of renal changes might be explained on the basis of alterations in immune mechanisms in the Hermansky-Pudlak syndrome.
Hermansky-Pudlak综合征是肾功能不全的一种罕见病因。由于该疾病存在出血风险，很少有患者接受肾活检。肾功能不全被认为是由于类蜡样色素在肾小管沉积以及间质纤维化所致。我们报告了一例肾活检结果显示有类蜡样色素沉积、间质纤维化，同时还有系膜IgA沉积、新月体性肾小球肾炎以及间质淋巴细胞浸润的病例。此外，在一份血液样本中检测到了IgG亚类的核周抗中性粒细胞胞浆抗体。众所周知，该综合征中的类蜡样色素会在单核细胞、巨噬细胞和T淋巴细胞中蓄积，有人认为这可能会影响它们的功能。我们认为，Hermansky-Pudlak综合征中这种新的肾脏改变组合可能基于免疫机制的改变来解释。
