Stapleton F B, Bernstein J, Koh G, Roy S, Wilroy R S
Am J Kidney Dis. 1982 Mar;1(5):288-93. doi: 10.1016/s0272-6386(82)80027-9.
A cystic renal lesion is described in a girl with oral-facial-digital syndrome, type I. Excretory urography was normal at 1 yr of age; however, flank masses, hypertension, and renal failure were discovered at 11 yr of age. Bilateral nephrectomies were performed prior to renal transplantation. The renal cortex was replaced by large cysts. The cysts were lined by flattened nondescript epithelium and many contained glomerular tufts. Twenty renal cysts were aspirated, and the cyst fluid analyzed for sodium, potassium, creatinine, and osmolality. The concentration of solutes in the cyst fluid was comparable to plasma values. The pathologic features and pattern of cyst solute concentration appear to distinguish the cystic renal lesion in oral-facial-digital syndrome from the more common adult-type polycystic kidney disease.
一名患有I型口面指综合征的女孩出现了囊性肾病变。排泄性尿路造影在1岁时正常；然而，在11岁时发现了胁腹肿块、高血压和肾衰竭。在进行肾移植之前进行了双侧肾切除术。肾皮质被大囊肿取代。囊肿内衬扁平的无特征性上皮，许多囊肿内含有肾小球簇。抽取了20个肾囊肿的囊液，并对囊液进行钠、钾、肌酐和渗透压分析。囊液中溶质的浓度与血浆值相当。病理特征和囊肿溶质浓度模式似乎将口面指综合征中的囊性肾病变与更常见的成人型多囊肾病区分开来。
