Avasthi P S, Erickson D G, Gardner K D
Ann Intern Med. 1976 Feb;84(2):157-61. doi: 10.7326/0003-4819-84-2-157.
Nine of 81 members of two families were found to have renal problems. Three patients in one family had renal-retinal dysplasia with probable recessive inheritance. Of the 6 patients in the second family, one received a kidney transplant from his brother who initially had no detectable renal abnormality but later developed renal failure. In this family, the mode of inheritance seems to be dominant. Hereditary renal-retinal dysplasia differs from medullary cystic disease and nephronophthisis in its pattern of uniformly recessive inheritance and its accompaniment by retinitis pigmentosa. Because genetic considerations have important implications in selection of donors for renal transplant, these entities should be considered distinct despite the similarities in their clinical and pathologic features.
在两个家族的81名成员中，有9人被发现存在肾脏问题。一个家族中的3名患者患有肾视网膜发育不良，可能为隐性遗传。在第二个家族的6名患者中，有一名患者接受了来自其兄弟的肾脏移植，其兄弟最初没有可检测到的肾脏异常，但后来发展为肾衰竭。在这个家族中，遗传模式似乎是显性的。遗传性肾视网膜发育不良在其一致的隐性遗传模式以及伴有色素性视网膜炎方面，与髓质囊性疾病和肾单位肾痨不同。由于遗传因素在肾移植供体的选择中具有重要意义，尽管这些实体在临床和病理特征上存在相似之处，但仍应将它们视为不同的疾病。
