There is limited literature from India with regard to the prevalence and magnitude of renal tubular and bone manifestations in Wilson's disease (WD). Thus, we studied the prevalence of renal tubular acidosis among Indian patients with WD and also evaluated bone health and body composition in them. It was a cross-sectional study conducted at a south Indian tertiary care center. Twenty-five consecutive patients with WD aged more than 12 years attending the hepatology and neurology departments and 50 age, sex and BMI-matched controls were recruited. After clinical assessment, they underwent biochemical testing to assess renal tubular dysfunction. Bone mineral density (BMD) and body composition were assessed using a dual energy X-ray absorptiometry (DXA) scanner. Fifty-six percent (14/25) of patients with WD had renal tubular acidosis (RTA). Of them, 24% were diagnosed to have distal RTA. RTA was more common in hepatic WD patients who had prolonged duration of illness. Patients with WD had significantly lower BMD as compared to control subjects (p < 0.05). Low BMI, low IGF-1 and a shorter duration of therapy were key determinants of low bone mass in them (p < 0.05). Patients with WD had significantly more body fat (p = 0.01) and lower lean muscle mass (p = 0.03) when compared to age, sex and BMI-matched controls. In conclusion, renal tubular acidosis was common in patients with Wilson's disease. These patients had a lower bone mineral density, higher body fat percentage and lower lean muscle mass as compared to controls.
Keywords: BMD; Body composition; India; Renal tubular acidosis; Wilson’s disease.