Evaluation of renal functions in wilson's disease

İntroduction: Wilson's disease is an autosomal recessive copper metabolism disease caused by a mutation in the ATP7B gene. There are few studies related to the abnormalities in kidney function tests during diagnosis and treatment of Wilson's disease and effects such as tubulopathy that may occur during the course of the treatment. Material and method: In our study, 58 patients who were followed up in Istanbul Medical Faculty, Department of Internal Medicine, Division of Gastroenterohepatology with the diagnosis of Wilson's disease were evaluated retrospectively in terms of kidney involvement. In all patient groups, general dermographic characteristics, biochemical tests, disease presentation findings, disease involvement, drug use, side effects of chelator agents on the kidney, presence of cirrhotic and non-cirrhotic liver disease, renal function tests and presence of tubulopathy were evaluated. Results: In our study, 39.7% of the cases were male and 60.3% were female, mean age was 33.1±11.8 years, mean age at diagnosis was 20.2±11.1 years, 56.9% of the patients had liver and 24.1% had neurological involvement. The mean follow-up period of the patients was 93.9±85.4 months (min. 1-max.286 months). In the whole patient group, the rate of patients with microalbuminuria was 9.4%, and the rate of patients with proteinuria over 150 mg/day was 8.8%. Nephrotic level proteinuria (8500 mg/day) was detected in 1 patient. Acidosis was detected in 46% of all patients, hypercalciuria was in 17.9%, and hypercalciuria and kidney stones was in 22.2%. There was no significant difference between the groups with and without renal dysfunction in terms of general dermographic characteristics, disease involvement, drug use, and presence of liver cirrhosis. Discussion: Although abnormality in kidney function tests is common in Wilson's disease, it is a complication that may occur both before and during the treatment and should be carefully evaluated during follow-up.