Bartsocas C S, Bernstein J, Orloff S, Chandra R, Schulman J D
Int J Pediatr Nephrol. 1986 Apr-Jun;7(2):101-6.
Two young siblings had a syndrome of growth retardation, severe rickets, anemia, renal insufficiency, and renal tubular dysfunction, the last including acidosis, aminoaciduria, and polyuria. There was moderate psychomotor developmental delay. Neither child had cystinosis. Renal biopsy in the older child revealed severe glomerular abnormalities, with capillary wall thickening reminiscent of the hemolytic-uremic syndrome. The proximal convoluted tubules were lined with short, cuboidal cells containing mildly abnormal mitochondria. There was also thinning of brush border microvilli and basolateral infoldings, perhaps as the result of regressive changes, and interstitial fibrous tissue was moderately increased. The etiology of the tubular and glomerular changes is uncertain. We believe these patients represent a previously unreported hereditary syndrome sharing certain clinical features with severe nephropathic cystinosis.
两名年幼的兄弟姐妹患有生长发育迟缓、严重佝偻病、贫血、肾功能不全和肾小管功能障碍综合征，后者包括酸中毒、氨基酸尿和多尿。存在中度精神运动发育迟缓。两个孩子均无胱氨酸病。年长孩子的肾活检显示严重的肾小球异常，毛细血管壁增厚让人联想到溶血尿毒综合征。近端曲管内衬短立方细胞，含有轻度异常的线粒体。刷状缘微绒毛和基底外侧褶也变薄，可能是退行性改变的结果，间质纤维组织中度增加。肾小管和肾小球改变的病因尚不确定。我们认为这些患者代表一种以前未报告的遗传性综合征，与严重肾病性胱氨酸病有某些共同临床特征。
