14_4_3
Volume 14, Number 4, pages 26 - 29
The Genetic Role in Autosomal Dominant Polycystic Kidney Disease and Nephrology Clinical Practice
2.0 CE Hrs for Quiz
Margaret Avery-Lynch, RD, BSc
Abstract
The science of genetics is able to provide clinicians with early information on the inheritance of autosomal dominant polycystic kidney disease (ADPKD). It is also possible that nephrology clinicians will be able to promote early patient education and provide interventions to improve patient care. Mutations in PKD1 and PKD2 genes account for the majority of ADPKD. ADPKD is one of the most common genetic diseases in humans, crossing all ethnic populations worldwide with an occurrence of one in 500 to one in 1,000 (Igarashi & Somlo, 2002). Individuals with ADPKD, generally in their third and fourth decade, will clinically manifest the initial stages of renal insufficiency such as back pain, urinary tract infections, systemic hypertension and urolithiasis. Although the mechanisms of inheritance are well-described in many medical journals, disease onset, expression and severity are variable. The variable nature of ADPKD suggests that education is vital in helping ADPKD patients make informed decisions on their health and future.
Author Affiliation(s): Margaret Avery-Lynch, RD, BSc, is Renal Dietitian, Regional Dialysis Program, Peterborough, Ontario. She also has a specialized educational focus in genetics. Address correspondence to Margaret Avery-Lynch, e-mail: mavery-l@prhc.on.ca