Polycystic kidney disease

Autosomal dominant (ADPKD) and autosomal recessive (ARPKD) polycystic kidney diseases represent clinically challenging disease states that affect adults and children, respectively. The newly discovered molecular and genetic mechanisms of disease have provided great insight into each disorder. ADPKD is usually characterized by an adult patient with many large, bilateral, renal cysts that distort and destroy renal parenchyma over time and lead to renal insufficiency. Hypertension is an important and modifiable symptom of the disease. If left unmanaged, hypertension and renal insufficiency would quickly lead to morbidity and mortality in most ADPKD patients. These patients also have a variety of surgical and medical complications, such as infections, cyst hemorrhage, nephrolithiasis, renal neoplasms, and aneurysms. ARPKD is a rare but usually fatal hepatorenal disorder affecting infants and young children. It is closely associated with hepatic fibrosis, and patients with this disease can rapidly develop renal and hepatic failure that necessitates heroic medical and surgical measures. Though diagnosis of these diseases has historically been radiographic, new molecular/genetic techniques can allow for a very specific characterization of mutations, which may have clinical ramifications. Ongoing research has been fruitful, though effective treatments for these diseases, aside from palliative management, have been difficult to develop. Nonetheless, these disease states are important for any kidney-focused clinician to understand well.