TITLE:
Clinical Study on Autosomal Dominant Polycystic Kidney Disease among South Indians
AUTHORS:
P. Veeramuthumari, W. Isabel
KEYWORDS:
Polycystic Kidney Disease; Hyponatremia; Renal Osteodystrophy; Anemia
JOURNAL NAME:
International Journal of Clinical Medicine,
Vol.4 No.4,
April
30,
2013
ABSTRACT:
Autosomal dominant polycystic kidney disease (ADPKD) is
a commonly inherited disorder in humans, with a frequency of 1 in 100 in the general
population. ADPKD is caused by mutations in PKD1 gene (85%) located on human
chromosome 16p13.3; Mutations in the PKD2 gene contribute to 15% of ADPKD
incidence and is located on human chromosome 4q2-23. A total of hundred ADPKD patients
and age and sex matched healthy individuals were selected for the study. The
study was aimed to evaluate the prevalence of ADPKD, lipid profile and level of
calcium (Ca), sodium
(Na), iron (Fe) and potassium (K) in patients with ADPKD and in healthy individuals.
The lipid profile was analyzed using commercially available span kit and semiautoanalyzer (Erba, Chem 5X). The
Ca, Na, Fe and K concentrations were estimated by flame photometry (ELICO,
CL 22D) and atomic absorption spectroscopy (ELICO, SL 173) and
significant changes were noted at p 0.05. The ADPKD
patients were observed to have lipid abnormalities, hyponatremia, cholesterolemia, renal
osteodystrophy, cardiovascular problems and anemia. Therefore, the study
reveals an association
between the lipid profile and Ca, Na, Fe and K levels with ADPKD among South
Indian population.