Brouhard B H, Srivastava R N, Travis L B, Kay M I, Beathard G A, Dodge W F, Lorentz W B
Nephron. 1977;19(2):99-112. doi: 10.1159/000180872.
Nephronophthisis (previously described as familial juvenile nephronophthisis and medullary cystic disease) is characterized by insidious renal failure, its main features being increased urinary sodium loss, pitressin-resistant hypotomic polyuria, polydipsia, normal urine sediment and absence of hypertension. Renal function and histologic studies were performed in a family in which two siblings had this disorder, while the parents and two other siblings appeared clinically normal. Both parents demonstrated a moderate impairment of maximum urinary concentration. The values for tubular free water reabsorption (TcH2O) were relativley normal in the parents and the healthy siblings. One of the index patients showed only minimal sodium wasting even though he had hyposthenuria, thus suggesting an involvement of the collecting ducts in the early stage of neophronophthisis. No evidence of proximal tubular dysfunction was found. Although the light-microscopic examination of renal biopsies from the parents and the healthy siblings was unremarkable, electron microscopy revealed probable abnormalities in all four. An autosomal recessive mode of inheritance is, therefore, suggested in this family. The etiology of nephronophthisis is obscure but a likely possibility is that the renal damage results from an inborn metabolic error.
肾单位肾痨（以前称为家族性青少年肾单位肾痨和髓质囊性疾病）的特征是隐匿性肾衰竭，其主要特征为尿钠丢失增加、对加压素抵抗的低渗性多尿、烦渴、尿沉渣正常且无高血压。对一个家族进行了肾功能和组织学研究，该家族中有两个兄弟姐妹患有这种疾病，而父母和另外两个兄弟姐妹临床症状正常。父母双方均表现出最大尿浓缩功能中度受损。父母和健康的兄弟姐妹的肾小管自由水重吸收（TcH2O）值相对正常。其中一名索引患者尽管尿比重低，但仅表现出极少的钠丢失，因此提示集合管在肾单位肾痨早期受累。未发现近端肾小管功能障碍的证据。尽管对父母和健康兄弟姐妹的肾活检组织进行光镜检查无异常，但电镜检查显示四人可能均存在异常。因此，该家族提示为常染色体隐性遗传模式。肾单位肾痨的病因尚不清楚，但一种可能的情况是肾损害源于先天性代谢错误。
