Chronic Cholestatic Liver Disease With Associated Tubulointerstitial Nephropathy in Early Childhood

We report the clinical and morphological features of an unusual hepatorenal disorder in 2 patients. The main clinical features were early onset of cholestatic liver disease and progressive tubulointerstitial nephritis, leading to renal death in early childhood. Renal histology showed interstitial fibrosis, tubular atrophy and dilatation, glomerular cysts in the cortex and periglomerular fibrosis; liver histology was characterized by portal fibrosis and bile duct abnormalities. Evaluating the 12 patients published in the literature, the long-term prognosis of the liver function appears bad, suggesting the possibility of a combined liver and kidney transplantation. Pediatrics 1997;100(3). URL: http://www.pediatrics. org/cgi/content/full/100/3/e10; cholestasis, tubulointerstitial nephritis, end-stage renal disease, liver and kidney transplantation, childhood. ABBREVIATIONS. AR-PKD, autosomal recessive polycystic kidney disease; NPH, nephronophthisis; AST, aspartate aminotransferase; ALT, alanine aminotransferase; GGT, gamma glutamyl transferase; ALP, alkaline phosphatase; ESRF, end-stage renal failure. The association between congenital hepatic and renal disease is intriguing and sometimes poses a difficult interpretation for the physician. Autosomal recessive polycystic kidney disease (AR-PKD) and nephronophthisis (NPH) are the renal problems known to be associated with liver disease.1,2 There are instead situations in which the clinical picture poses numerous nosologic problems, and even the pathologic features are lacking the typical elements for a specific diagnosis. Furthermore, as kidney transplantation is necessary for these patients, the physician also has to face the long-term prognosis of the liver function, especially if a precise knowledge of the underlying disease is lacking. We describe 2 children with an unusual hepatorenal disease and early end-stage renal insufficiency. We also review the data of 12 children from the literature3–9 with an associated early renal death and cholestatic liver disease and discuss the role of a combined liver and kidney transplant in these patients.