Study on Autosomal Dominant Polycystic Kidney Disease among South Indians: A Clinical Approach

Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited disorder in humans, affecting one in every 100 people. ADPKD is caused by mutations in the PKD1 gene (85%), which is located on human chromosome 16p13.3; mutations in the PKD2 gene, which is located on human chromosome 4q21 - 23, contribute to 15% of ADPKD incidence. A total of 100 ADPKD patients and age and gender matched healthy people were chosen for the study. The objective of the study was to evaluate the lipid profile and level of calcium (Ca), sodium (Na), iron (Fe) and potassium (K) in patients with ADPKD and in healthy individuals. A commercially available span kit and semiautoanalyzer(Erba, Chem 5X) were used to analyse the lipid profile. The Ca, Na, Fe, and K concentrations were determined using flame photometry (ELICO, CL 22D) and atomic absorption spectroscopy (ELICO, SL 173), and significant differences were observed at p < 0.05. Lipid abnormalities, hyponatremia, cholesterolemia, renal osteodystrophy, cardiovascular problems, and anaemia were observed in ADPKD patients. As a result, the study reveals a link between the lipid profile and Ca, Na, Fe, and K levels and ADPKD in the South Indian population.