The genetic role in autosomal dominant polycystic kidney disease and nephrology clinical practice.
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 and 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.
Avery-Lynch
Margaret
M
Regional Dialysis Program, Peterborough, Ontario. mavery-l@prhc.on.ca
D000368:Aged; D001294:Attitude to Health; D003266:Continuity of Patient Care; D017041:Ethics Committees; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005820:Genetic Testing / Q000379:methods / Q000523:psychology; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D007676:Kidney Failure, Chronic / Q000235:genetics / Q000628:therapy; D008957:Models, Genetic; D018579:Patient Selection; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications / Q000235:genetics* / Q000523:psychology; D006435:Renal Dialysis