Autosomal Dominant Polycystic Kidney Disease
Although it occurs in one in 400 people, autosomal dominant polycystic kidney disease (ADPKD) is relatively unknown outside of the renal medicine community. Discovery of the polycystin genes that code for ADPKD has revolutionized diagnosis of one of the most common genetic diseases. Back and/or flank pain with hematuria are the usual presenting symptoms, but long-term hypertension is the key objective finding. A timely diagnosis and aggressive treatment of hypertension can slow cyst growth and reduce end-stage organ damage, thus extending the life span of the patient and delaying the need for dialysis or transplantation.
While genetic testing is available, ultrasound is a quick, relatively inexpensive, and easy method to screen for this diagnosis. The progression of ADPKD to ESRD, requiring dialysis or organ transplantation, can be slowed with early and aggressive treatment of hypertension. As with all patients affected by renal impairment, suggestions for patients with ADPKD to avoid use of NSAIDs, contrast dye, and gadolinium-enhanced MRI are appropriate. The primary care PA or NP is in an appropriate position to see to this.
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