Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) is caused by pathogenic variants in the PKD1 or PKD2 gene. Abnormal tubular-cell growth produces numerous fluid-filled cysts in both kidneys. The cysts enlarge over time, compress functioning renal tissue, and alter intrarenal blood flow. Filtration can therefore deteriorate gradually, even while the patient feels well. Hypertension is often an early finding rather than a late consequence of kidney failure. Expanding cysts can impair renal perfusion and promote renin–angiotensin–aldosterone system activity; sodium and water retention then add to the pressure burden. This is why a rising blood pressure may be the first clinically visible sign of progression. The kidneys may become markedly enlarged, producing abdominal fullness, flank discomfort, or pain. Cysts may bleed or become infected, and altered urinary anatomy increases the risk of nephrolithiasis and urinary-tract infection. ADPKD is a systemic inherited disorder, so cysts can occur outside the kidneys; however, the renal cyst burden and its effect on blood pressure and filtration drive most nursing priorities. Because the inheritance is autosomal dominant, a parent who carries the disorder has a 50% chance...