ESSENTIALS OF DIAGNOSIS
Multiple cysts in both kidneys; number of cysts depends on patient age.
Combination of hypertension and large palpable kidneys suggestive of disease.
Autosomal dominant chromosomal abnormalities present in some patients.
Autosomal dominant polycystic kidney disease is the most common monogenic kidney disease, affecting over 12 million individuals worldwide. ESKD develops by age 60 in up to 50% of patients. The disease has variable penetrance but accounts for 5–10% of all ESKD cases globally. At least two genes account for this disorder: PKD1 on the short arm of chromosome 16 (85–90% of patients) and PKD2 on chromosome 4 (10–15%). Patients with the PKD2 mutation have slower progression of disease and longer life expectancy than those with PKD1. Other sporadic cases without these mutations are also recognized.
Abdominal or flank pain and hematuria (either microscopic or gross) are present in most patients. A history of UTIs and nephrolithiasis is common. A family history of autosomal dominant polycystic kidney disease is present in 75% of cases, and more than 50% of patients have hypertension that may precede clinical manifestations. Patients have large kidneys that may be palpable on abdominal examination. The combination of hypertension and an abdominal mass should raise suspicion for the disease. Forty to 50 percent have concurrent hepatic cysts; pancreatic and splenic cysts may occur. Despite development of CKD, hemoglobin is often normal as a result of cystic erythropoietin production. UA may show hematuria and subnephrotic proteinuria. In patients with an established family history of autosomal dominant polycystic kidney disease, ultrasonography confirms the diagnosis (eFigure 22–18) (eFigure 22–19)—two or more cysts in patients under age 30 years (sensitivity of 88.5%), two or more cysts in each kidney in patients aged 30–59 years (sensitivity of 100%), and four or more cysts in each kidney in patients aged 60 years or older are diagnostic for autosomal dominant polycystic kidney disease. Importantly, these criteria do not apply to individuals without a known family history; patients without a known family history of polycystic kidney disease require additional diagnostic evaluation including CT scanning, which reveals innumerable cysts in cases of polycystic kidney disease (Figure 22–5); the presence of multiple hepatic cysts can aid in establishing the diagnosis. In some cases, genetic testing for PKD1 and PKD2 mutations may be required.
Polycystic kidney disease. Transverse prone sonogram shows bilateral enlarged kidneys (K) containing multiple cysts (S). S, spine. (Reproduced, with permission, from Krebs CA. Renal Ultrasound Home Study Course. American Society of Radiologic Technologists, 1990.)
Adult polycystic kidney disease. Longitudinal sonogram from a patient with known adult polycystic kidney disease. The kidney is markedly enlarged and deformed, with multiple cysts (arrows) of varying sizes. (Used, ...