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.
Picture of polycystic kidney, roughly retains the same shape as the healthy kidney.
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 dull pain can be temporary or
persistent, mild or severe.
People with autosomal dominant PKD also can experience the
following complications:
Urinary tract infection (UTI) is an infection of the kidney, ureter, bladder, and/or urethra. Not
everyone with a UTI has symptoms. Common symptoms include a frequent urge to
urinate and a painful, burning when urinating.
Kidney failure can occur from an acute event or a chronic condition or disease. Prerenal kidney failure is caused by blood loss, dehydration, medication. Some of the renal causes of kidney failure are from sepsis, medications, rhabdomyolysis, multiple myeloma, and acute glomerulonephritis. Post renal causes of kidney failure include bladder obstruction, prostate problems, tumors, or kidney stones. Treatment options included diet, medications, or dialysis.
High blood pressure, also known as hypertension, is a repeatedly
elevated blood pressure exceeding 140 over 90 mmHg -- a systolic pressure above
140 with a diastolic pressure above 90. There are two causes of high blood pressure, primary and secondary. Primary high blood pressure is much more common that secondary and its basic causes or underlying defects are not always known. It is known that a diet high in salt increases the risk for high blood pressure, as well as high cholesterol. Genetic factors are also a primary cause. Secondary high blood pressure is generally caused by another condition such as renal hypertension, tumors, and other conditions. Treatment for high blood pressure is generally lifestyle changes and if necessary, diet.
Headaches can be divided into two categories: primary headaches and secondary headaches. Migraine headaches, tension headaches, and cluster headaches are considered primary headaches. Secondary headaches are caused by disease. Headache symptoms vary with the headache type. Over-the-counter pain relievers provide short-term relief for most headaches.
Kidney infection (pyelonephritis) usually is caused from bacteria that have spread from the bladder from a UTI (urinary tract infection), poor hygiene, sexual intercourse, pregnancy, catheter, cystoscope exam, surgery, kidney stones, or prostate enlargement. Symptoms of kidney infection include: back pain, frequent urination, pain during urination, fever, and or pus or blood in the urine. Kidney infection is usually treated with antibiotics.
Cysts are saclike structures that can occur throughout the body and usually contain a semisolid, liquid, or gaseous substance. Infections, tumors, genetic conditions, chronic inflammatory conditions, and wear and tear can cause cysts. Though some cysts may be palpable, others may not produce any symptoms. Treatment depends upon the location and cause of the cyst.
Brain aneurysm (cerebral aneurysm) is caused by microscopic damage to artery walls, infections of the artery walls, tumors, trauma, drug abuse. Symptoms include headache, numbness of the face, dilated pupils, changes in vision, the "worst headache of your life," or a painful stiff neck. Immediate treatment for a brain aneurysm is crucial for patient survival.
High blood pressure (hypertension) means high pressure (tension) in the arteries. Treatment for high blood pressure include lifestyle modifications (alcohol, smoking, coffee, salt, diet, exercise), drugs and medications such as ACE inhibitors, angiotensin receptor blockers, beta blockers, diuretics, calcium channel blockers (CCBs), alpha blockers, clonidine, minoxidil, and Exforge.
Pancreatic cysts are collections of fluid within the pancreas. Some are benign, malignant, or pseudocysts. There are two major types of pancreatic cysts, inflammatory cysts and non-inflammatory cysts. Non-inflammatory cysts include: serous cyst adenomas, mucinous cyst adenomas, intraductal papillary mucinous neoplasm (IPMN), and solid pseudopapillary tumor of the pancreas. Symptoms of pancreatic cysts include abdominal pain, jaundice, fever, chills, and sepsis. Treatment depends on the type of cyst, and patient health.
High blood pressure can damage the kidneys and is one of the leading causes of kidney failure (end-stage renal kidney disease). Kidney damage, like hypertension, can be unnoticeable and detected only through medical tests. If you have kidney disease, you should control your blood pressure. Other treatment options include prescription medications.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
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