Yoshida A, Morozumi K, Koyama K, Takeda A, Uchida K, Tominaga Y, Oikawa T, Fujinami T, Takagi H
Division of Nephrology, Nagoya Daini Red Cross Hospital.
Nihon Jinzo Gakkai Shi. 1992 Sep;34(9):1035-9.
Familial juvenile nephronophthisis (FJN) is a hereditary renal disease, characterized by a juvenile onset and the development of medullary cysts and progressive renal damage. The pathogenesis of FJN remains unknown, and at present, no rational therapy other than renal transplantation is available. We describe two cases in siblings in whom there were no extrarenal complications, such as retinopathy or central nervous system involvement. Both patients display juvenile onset of the disease and end-stage renal failure. The brother received a kidney from his father, and the sister received a kidney from her mother. Recurrence of the underlying disease has not so far been found in the transplanted kidney.
家族性青少年肾单位肾痨（FJN）是一种遗传性肾脏疾病，其特征为青少年起病、髓质囊肿形成及进行性肾脏损害。FJN的发病机制尚不清楚，目前除肾移植外尚无合理的治疗方法。我们描述了一对患此病的兄妹，他们没有视网膜病变或中枢神经系统受累等肾外并发症。两名患者均青少年起病并发展至终末期肾衰竭。哥哥接受了来自父亲的肾脏，妹妹接受了来自母亲的肾脏。目前在移植肾中尚未发现潜在疾病的复发。
