论文部分内容阅读
遗传性草酸盐沉积症为少见的先天性二羟醋酸盐(glyoxylate)代谢缺陷,特点为草酸钙性肾石病,慢性肾功能衰竭和全身各种组织和器官的草酸盐结晶沉着,包括心肌、骨骼、睾丸、中枢神经系统,甲状腺,动脉、脂肪、淋巴结、肌肉、皮肤和眼。本病可分两种类型,均为常染色体隐性遗传。遗传性草酸盐沉积症的眼部病变很少有报道。Buri(1962)曾发现一例黄斑部有闪光的黄色小斑点,Timm(1976)报告一例后极部有结晶样沉着,Gottlieb等(1977)报告一例视网膜呈斑点状草酸盐沉积。本文报告一例遗传性草酸盐沉积症性视网膜病变,该病变呈进行性变化。病例报告:患者为一12周龄女婴,在急诊室诊断为急性肾功能衰竭,患儿系正常妊娠及分娩,家族中无肾或眼病及血族联姻史,生后8周时,出
Hereditary oxalate deposition syndrome is a rare congenital metabolic defect of glyoxylate characterized by calcium oxalate stone disease, chronic renal failure, and oxalate crystallization in various tissues and organs throughout the body, Includes heart, bone, testis, central nervous system, thyroid, arteries, fat, lymph nodes, muscles, skin and eyes. The disease can be divided into two types, are autosomal recessive. Eye diseases with hereditary oxalate deposits are rarely reported. Buri (1962) found a small yellow spot with yellowish glitter. Timm (1976) reported an example of a posterior pole with crystalline deposits. Gottlieb et al. (1977) reported a speckled oxalate deposition in the retina. This article reports a case of hereditary oxalate-induced retinopathy, which progresses progressively. Case Report: The patient was a 12-week-old baby girl diagnosed with acute renal failure in the emergency department, normal pregnancy and childbirth in the child, no history of kidney or eye disease and kinship in the family, 8 weeks after birth