RENAL INVOLVEMENT IN ARTERIOHEPATIC DYSPLASIA (AHD)

Abstract

The syndrome of AHD consists of cholestasis secondary to paucity of intrahepatic bile ducts, pulmonic stenosis, vertebral abnormalities, mental retardation, and a characteristic facies. Although renal involvement has been infrequently reported, a spectrum of changes including congenital small kidney with renal failure, cystic kidney disease, tubulointerstitial nephropathy and renal lipidosis have been noted. To better define renal functions in AHD, we evaluated 8 children(2M,6F;ages2-16yr). Glomerular filtration rate (GFR) was reduced in 2/5(<10%;<50%). One of 2 pts with proteinuria had nephrotic syndrome and reduced GFR; 1 had mild proteinuria and normal GFR. Proximal and distal renal tubular functions including concentration and acidifiation tests were normal(5/5). Initially serum electrolytes, calcium, magnesium, uric acid and acid-base status were normal, but hyperchloremic metabolic acidosis developed with cholestyramine therapy in 3. Rickets developed in 1. Blood pressure was normal in all. Renal tissue(1 biopsy, 3 postmortem) examination showed normal kidney(1), glomerulosclerosis(1), calcium deposits(1) and renal lipidosis(1). On electron microscopic examination, the lipid deposits showed granular and lamellar electron-dense bodies, while X-ray dispersive analysis showed them to be rich in chromium, silicon, calcium, phosphorus and iron. Conclusions: 1) A spectrum of renal changes are found in AHD. 2) Renal functions may be variably reduced. 3) Renal lipidosis may be related to long standing hyperlipidemia as a result of intrahepatic cholestasis. 4) Trace elements are accumulated in electron-dense bodies.