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Same gene mutation in urinary protein responsible for two different types of kidney disease
December 06, 2002The same gene mutation in a urinary protein causes two different types of kidney disease, research in the Journal of Medical Genetics shows.
Medullary cystic kidney disease type 2 starts in childhood and is a progressive disease of both kidneys, eventually leading to renal failure and death. Familial juvenile hyperuricaemic nephropathy is caused by the kidneys being unable to process purines, found in many foods, leading to the build-up of uric acid, potentially causing gout, and eventually renal failure.
Definitive diagnosis of both conditions is often possible only after extensive disease has occurred.
The researchers carried out DNA analysis and gene mapping studies on four large families spanning several generations. Three families had a history of familial juvenile hyperuricaemic nephropathy and one medullary cystic kidney disease.
Four different gene mutations for the protein uromodulin were found across the four families for both diseases.
High levels of this protein are normally excreted into the urine, although the exact role of this protein remains something of a mystery. It might act as an antioxidant, and it may help to preserve the impermeability of the Loop of Henle, the kidney’s equivalent of the plumbing U-bend.
Although long suspected to have a role in these diseases, this is the first time that research has shown conclusive evidence that uromodulin is a prime suspect.
The authors say that their discovery heralds the possibility of a definitive diagnostic test, because the diseases are autosomal dominant, meaning that every family member has a one in two chance of being affected.
Conclusive results before the development of symptoms will mean early treatment and the prevention of the long term and potentially serious complications of both diseases, they say. And it could be particularly important for siblings wanting to act as kidney donors for their brothers or sisters who already have symptoms.
British Medical Journal (BMJ)
The researchers carried out DNA analysis and gene mapping studies on four large families spanning several generations. Three families had a history of familial juvenile hyperuricaemic nephropathy and one medullary cystic kidney disease.
Four different gene mutations for the protein uromodulin were found across the four families for both diseases.
High levels of this protein are normally excreted into the urine, although the exact role of this protein remains something of a mystery. It might act as an antioxidant, and it may help to preserve the impermeability of the Loop of Henle, the kidney’s equivalent of the plumbing U-bend.
Although long suspected to have a role in these diseases, this is the first time that research has shown conclusive evidence that uromodulin is a prime suspect.
The authors say that their discovery heralds the possibility of a definitive diagnostic test, because the diseases are autosomal dominant, meaning that every family member has a one in two chance of being affected.
Conclusive results before the development of symptoms will mean early treatment and the prevention of the long term and potentially serious complications of both diseases, they say. And it could be particularly important for siblings wanting to act as kidney donors for their brothers or sisters who already have symptoms.
British Medical Journal (BMJ)
Kidney Disease Current Events and Kidney Disease News RSSHigh Blood Pressure Easy to Miss in Children with Kidney Disease
Spot blood pressure readings in children with chronic kidney disease often fail to detect hypertension - even during doctor's office visits - increasing a child's risk for serious heart problems, according to research from Johns Hopkins Children's Center and other institutions. A report of the findings appears online in the Journal of American Society of Nephrology.
New research shows versatility of amniotic fluid stem cells
For the first time, scientists have demonstrated that stem cells found in amniotic fluid meet an important test of potential to become specialized cell types, which suggests they may be useful for treating a wider array of diseases and conditions than scientists originally thought.
Young athletes need dual screening tests for heart defects, study suggests
To best detect early signs of life-threatening heart defects in young athletes, screening programs should include both popular diagnostic tests, not just one of them, according to new research from heart experts at Johns Hopkins.
New class of molecules may help prevent fatal complication in patients with kidney disease
Researchers at the University of Maryland School of Medicine have made an important discovery about why potassium builds up to dangerous levels in the bloodstream, a relatively common medical problem that affects about eight percent of hospitalized patients.
Reduction in glycotoxins from heat-processing of foods reduces risk of chronic disease
Researchers from Mount Sinai School of Medicine report that cutting back on the consumption of processed and fried foods, which are high in toxins called Advanced Glycation End products (AGEs), can reduce inflammation and actually help restore the body's natural defenses regardless of age or health status.
Help your kidneys: Pass on salt and diet soda
Individuals who consume a diet high in sodium or artificially sweetened drinks are more likely to experience a decline in kidney function, according to two papers being presented at the American Society of Nephrology's annual meeting in San Diego, California.
Can charcoal fight heart disease in kidney patients?
Charcoal may provide a new approach to managing the high rate of heart disease in patients with advanced kidney disease, according to preliminary research being presented at the American Society of Nephrology's 42nd Annual Meeting and Scientific Exposition in San Diego, CA.
Women with chronic kidney disease more likely than men to go undiagnosed
Woman are at particular risk of their primary care physicians delaying diagnosis of chronic kidney disease (CKD), according to a paper being presented at the American Society of Nephrology's 42nd Annual Meeting and Scientific Exposition in San Diego, California.
For dialysis patients, skinny is dangerous
Dialysis patients with low body fat are at increased risk of death-even compared to patients at the highest level of body fat percentage, according to research being presented at the American Society of Nephrology's 42nd Annual Meeting and Scientific Exposition in San Diego.
Protein critical for insulin secretion may be contributor to diabetes
A cellular protein from a family involved in several human diseases is crucial for the proper production and release of insulin, new research has found, suggesting that the protein might play a role in diabetes.
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