[Hereditary tubulo-interstitial nephropathy].
Most of the hereditary tubulointerstitial nephropathy see the cyst formation in the kidney. Among them, juvenile nephronophthisis and medullary sponge kidney, which primarily involve the tubule structures of the renal medulla, are associated with variable enlargement of the distal tubules and collecting ducts and with interstitial fibrosis and inflammation of a variable extent. Juvenile nephronophthisis features sodium wasting, anemia, and renal failure. Eighty % of juvenile nephronophthisis is an autosomal recessive disorder, and it also has a variant form which is an autosomal dominant disease. A gene for autosomal recessive juvenile nephronophthisis is now mapped to 2q13, although no linkage has been observed in autosomal dominant variant to this region. Thus genetic heterogeneity between autosomal recessive variant and autosomal dominant variant of juvenile nephronophthisis is suggested. Juvenile nephronophthisis progress to end-stage renal failure. In contrast, medullary sponge kidney, which features nephrocalcinosis and urinary stones, is a relatively benign condition and occurs occasionally in the same family.
Horie
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Department of Urology, Faculty of Medicine, University of Tokyo.
D001581:Benzothiadiazines; D004232:Diuretics; D005817:Genetic Counseling; D006801:Humans; D007668:Kidney / Q000473:pathology; D009395:Nephritis, Interstitial / Q000235:genetics / Q000473:pathology; D016891:Polycystic Kidney, Autosomal Dominant; D017044:Polycystic Kidney, Autosomal Recessive; D049993:Sodium Chloride Symporter Inhibitors / Q000627:therapeutic use
D001581:Benzothiadiazines; D004232:Diuretics; D049993:Sodium Chloride Symporter Inhibitors