FAMILIAL PROGRESSIVE TUBULOINTERSTITIAL NEPHROPATHY AND CHOLESTATIC LIVER-DISEASE - A NEWLY RECOGNIZED ENTITY

We describe two siblings (female and male) with progressive tubulo-int erstitial nephropathy and cholestatic liver disease. The main characte ristics were progressive renal failure and elevated liver enzymes (AST , ALT and gamma-GT). Dialysis was started at the age of 1.9 and 6.5 ye ars, respectively. Renal histology disclosed sclerosed glomeruli and a trophic tubules; the interstitium was fibrotic and infiltrated by lymp hocytes. Endoscopic retrograde cholangiopancreatography revealed segme ntal irregularities and narrowing of the intrahepatic bile ducts, cons istent with early primary sclerosing cholangitis. Liver histology show ed enlarged portal triads, mild proliferation and inflammation of bile ducts, and fibrosis, At 5.9 years the girl underwent a successful ren al transplantation whereas the boy is still on dialysis. Conclusion Th e association of progressive tubulointerstitial nephropathy and choles tatic liver disease, consistent with early primary sclerosing cholangi tis, constitutes a distinct autosomal recessive entity.