tests which assess distal tubular function (Broberger Winberg, and Zetterstrom, 1960). The disorder may appear at different ages and have variable rates of progression, even within the same family, but it usually takes a rapid course in childhood, while a more protracted course is common in adults (Axelsson and Odlund, 1968). The aetiology of nephronophthisis is obscure. Bacterial infection is ...

The outcome in 15 children with advanced Indian childhood cirrhosis (ICC) treated with penicillamine 20 mg/kg/day was not significantly different from that in untreated children. Among children admitted to a further double blind trial who had ICC but who had not yet developed jaundice or ascites 10 treated with penicillamine and 10 treated with penicillamine plus prednisolone had a significantl...

In advanced Indian childhood cirrhosis (ICC) urine copper concentration was higher (range 416-103,448 mg/g creatinine) than in other hepatic diseases (range 67-10,303 mg/g creatinine). In early ICC urine copper concentration was more modestly raised (1188-9470 mg/g creatinine), but rose to high values (2222-42,819 mg/g creatinine) after a single dose of penicillamine 20 mg/kg. A post-penicillam...

Recent advances in molecular biology have made possible the identification of genetic defects responsible for Wilson's disease, Indian childhood cirrhosis and copper toxicosis in Long Evans Cinnamon rats, toxic milk mice, and Bedlington terriers. The Wilson's disease gene is localized on human chromosome 13 and codes for ATP7B, a copper transporting P-type ATPase. A genetic defect similar to th...

Sixty five patients (20 children and 45 adults of both sexes) having hepatomegaly were subjected to serum copper, hepatic copper and hepatic cuproprotein analysis from October 1982 through September 1983. Higher levels of serum copper were encountered in 17/20 children suffering from Indian Childhood Cirrhosis (ICC), values ranging from 151 ug/dl to 350 ug/dl. Hypercupremia was also detected in...

BACKGROUND Metals in single spot urine samples are often used to estimate individual exposure in human studies. However, measurements in urine could vary greatly over time due to variable exposure, potentially leading to exposure misclassification. OBJECTIVE We examined the variability of metal levels in the urine of 11 men who provided 529 samples on 8 days during a 3-month period, which cor...

Tighter P&T committee rules proposed for NAIC model act.