All issues > Volume 32(8); 1989

Original Article

J Korean Pediatr Soc. 1989;32(8):1155-1160. Published online August 31, 1989.

Juvenile Nephronophyjisis in An Infant.

Young Seo Park¹, Chang Youn Lee¹, Hae Il Cheong¹, Yong Choi¹, Kwang Wook Ko¹, Je Geun Chi², Chang Bin Im³

¹Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea
²Department of Pathology, College of Medicine, Seoul National University, Seoul, Korea
³Department of Pediatrics, Dae Han Hospital, Seoul, Korea

Received: December 20, 1988;  Accepted: February 28, 1989.

Abstract

Juvenile nephronophthisis is a chronic tubulo-interstitial renal disease characterized by an early onset of polyuria and polydipsia, decreased urinary concentrating ability, anemia, growth retardation and progressive renal disease. It is recognized as an important cause of chronic renal failure in the childhood. However only one case was reported in the Korean literatures. In this paper we have reported the second documented case of juvenile nephronophthisis in Korea in an 8 months old girl. This case was presented as chronic renal failure which probably had begun since 5 months of age, and died of Pseudomonas sepsis. Characteristic features of nephronophthisis with a marked tubulointerstitial reaction, microcystic change, tubular basement membrane abnor- malities and congenital hepatic fibrosis were found at postmortem examination. Juvenile nephronophthisis should be considered as one of the causative diseases of chronic renal failure not only in childhood but also in infancy.

Keywords :Juvenile Nephronophthisis, Chronic Renal Failure