Scientists have begun to identify the processes that trigger formation of PKD cysts. Advances in the field of genetics have increased our understanding of the abnormal genes responsible for autosomal dominant and autosomal recessive PKD. Scientists have located two genes associated with autosomal dominant PKD. The first was located in 1985 on chromosome 16 and labeled PKD1. PKD2 was localized to chromosome 4 in 1993. Within 3 years, scientists had isolated the proteins these two genes produce-polycystin-1 and polycystin-2.
When both the PKD1 and PKD2 genes are normal, the proteins they produce work together to foster normal kidney development and inhibit cyst formation. A mutation in either of the genes can lead to cyst formation, but evidence suggests that disease development also requires other factors, in addition to the mutation in one of the PKD genes.
Genetic analyses of most families with PKD confirm mutations in either the PKD1 or PKD2 gene. In about 10 to 15 percent of cases, however, families with autosomal dominant PKD do not show obvious abnormalities or mutations in the PKD1 and PKD2 genes, using current testing methods.
Researchers have also recently identified the autosomal recessive PKD gene, called PKHD1, on chromosome 6. Genetic testing for autosomal recessive PKD to detect mutations in PKHD1 is now offered by a limited number of molecular genetic diagnostics laboratories in the United States.
Researchers have bred rodents with a genetic disease that parallels both inherited forms of human PKD. Studying these mice will lead to greater understanding of the genetic and nongenetic mechanisms involved in cyst formation. In recent years, researchers have discovered several compounds that appear to inhibit cyst formation in mice with the PKD gene. Some of these compounds are in clinical testing in humans. Scientists hope further testing will lead to safe and effective treatments for humans with the disease.
Recent clinical studies of autosomal dominant PKD are exploring new imaging methods for tracking progression of cystic kidney disease. These methods, using MRI, are helping scientists design better clinical trials for new treatments of autosomal dominant PKD.
People interested in participating in clinical trials of new treatments for PKD can find a list of centers recruiting patients at www.ClinicalTrials.gov.
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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