Autosomal recessive PKD is a rare inherited form. Symptoms of autosomal recessive PKD begin in the earliest months of life, even in the womb Autosomal dominant PKD is the most common inherited disorder of the kidneys. The phrase “autosomal dominant” means that if one parent has the disease, there is a 50 percent chance that the disease gene will pass to a child. In some cases—perhaps 10 percent—autosomal dominant PKD occurs spontaneously in patients. In these cases, neither of the parents carries a copy of the disease gene. Many people with autosomal dominant PKD live for several decades without developing symptoms. For this reason, autosomal dominant PKD is often called “adult polycystic kidney disease.” Yet, in some cases, cysts may form earlier in life and grow quickly, causing symptoms in childhood The cysts grow out of nephrons, the tiny filtering units inside the kidneys. The cysts eventually separate from the nephrons and continue to enlarge. The kidneys enlarge along with the cysts—which can number in the thousands—while roughly retaining their kidney shape. In fully developed autosomal dominant PKD, a cyst-filled kidney can weigh as much as 20 to 30 pounds. High blood pressure is common and develops in most patients by age 20 or 30. What are the symptoms of autosomal dominant PKD?
The most common symptoms are pain in the back and the sides—between the ribs and hips—and headaches. The pain can be temporary or persistent, mild or severe. People with autosomal dominant PKD also can experience the following complications: urinary tract infections—specifically, in the kidney cysts hematuria—blood in the urine
liver and pancreatic cysts
abnormal heart valves
high blood pressure
aneurysms—bulges in the walls of blood vessels—in the brain diverticulosis—small pouches bulge outward through the colon How is autosomal dominant PKD diagnosed?
Autosomal dominant PKD is usually diagnosed by kidney imaging studies. The most common form of diagnostic kidney imaging is ultrasound, but more precise studies, such as computerized tomography (CT) scans or magnetic resonance imaging (MRI) are also widely used. In autosomal dominant PKD, the onset of kidney damage and how quickly the disease progresses can vary. Kidney imaging findings can also vary considerably, depending on a patient’s age. Younger patients usually have both fewer and smaller cysts. Doctors have therefore developed specific...