Chamberlin B C, Hagge W W, Stickler G B
Mayo Clin Proc. 1977 Aug;52(8):485-91.
Juvenile nephronophthisis and medullary cystic disease are morphologically indistinguishable hereditary renal disorders. These diseases have been described independently but very likely are a single disease entity and occur as a juvenile-onset, autosomal recessive form and as an adult-onset, autosomal dominant form. We agree with this hypothesis and present here the clinical, laboratory, and pathologic findings of six cases of the juvenile-onset, autosomal recessive form, along with an analysis of the mode of transmission of these and other published cases of the disorder.
青少年肾单位肾痨和髓质囊性疾病是形态学上无法区分的遗传性肾脏疾病。这些疾病虽已被分别描述，但很可能是单一的疾病实体，以青少年起病的常染色体隐性形式和成人起病的常染色体显性形式出现。我们认同这一假说，并在此呈现6例青少年起病的常染色体隐性形式病例的临床、实验室及病理检查结果，同时分析这些病例以及其他已发表的该疾病病例的遗传方式。
