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家族性青少年肾单位肾痨。综述与鉴别诊断。

Familial juvenile nephronophthisis. A review and differential diagnosis.

作者信息

Cantani A, Bamonte G, Ceccoli D, Biribicchi G, Farinella F

出版信息

Clin Pediatr (Phila). 1986 Feb;25(2):90-5. doi: 10.1177/000992288602500206.

DOI:10.1177/000992288602500206
PMID:3510794
Abstract

Familial juvenile nephronophthisis (FJN) is a frequent cause of chronic renal failure in children and adolescents. Typically it presents after 6 years of age through adolescence, but may become apparent in early childhood. The clinical presentation is insidious, and the early symptoms of polyuria and polydipsia are often overlooked in the presence of a relatively normal urinalysis and in the absence of proteinuria, azotemia, and hypertension. Thus most patients are not diagnosed until after the onset of renal failure. These children are excellent candidates for properly selected transplantation.

摘要

家族性青少年肾单位肾痨(FJN)是儿童和青少年慢性肾衰竭的常见病因。通常在6岁以后至青春期发病,但也可能在幼儿期就表现出来。临床表现隐匿,在尿常规相对正常且无蛋白尿、氮质血症和高血压的情况下,多尿和烦渴的早期症状常被忽视。因此,大多数患者直到肾衰竭发作后才被诊断出来。这些儿童是合适的移植对象。

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