Sunday, February 1, 2015

Pediatric PKD; Problems of High Calcium & Phosphorus; Exploring Cat Genome for PKD Links; PKD Education & Treatment Needs

Living with PKD

From The Beach Reporter, Beach Cities, CA

Pediatric Urology and Nephrology Issues: More Common Than You’d Think

Deepak Rajpoot, M.D., medical director, pediatric nephrology, Miller Children’s & Women’s Hospital Long Beach 

Pediatric urological and renal conditions constantly present parents with challenges, not only because the symptoms of these conditions are mostly hidden, but also because parents don’t realize how common some of these conditions can be.

Pediatric urological and renal conditions are issues involving a child’s urinary tract and reproductive organs, which include kidneys, bladder and urethra.

There are an abundance of different urological and renal conditions out there but some of the more common conditions in kids are renal tubular acidosis, polycystic kidney disease and urinary tract infections.

Renal tubular acidosis (RTA) is a condition that involves an accumulation of acid in your child’s blood due to a failure of the kidneys to remove excess acid from their blood into their urine. Some of the most common symptoms of RTA are pain in the back or side that spreads to the lower abdomen, pain while urinating and decreased urination. Some of the factors that can cause RTA are too much acid in the body, high blood calcium or the use of certain prescription drugs.

Polycystic kidney disease (PKD) is an inherited disorder in which many fluid-filled cysts develop in your child’s kidneys. PKD is a genetic disorder that affects more than 500,000 people in the U.S. If one parent has this disorder, the chance of passing it down to your child is 50 percent. Other health issues that could develop if your child has PKD are high blood pressure, back pain and headaches.

Urinary tract infections (UTI) are bacterial infections that develop in your child’s urinary tract. UTIs are the second most common type of infection in the body - accounting for more than eight million visits to health care providers each year. Some of the most common symptoms of a UTI are a burning sensation when urinating, passing frequent, small amounts of urine and strong-smelling urine. UTIs can be prevented by not holding urine in for long periods of time and by drinking lots of water each day to keep the bladder active and bacteria free.

Even though these are three of the most common conditions, every pediatric urological and renal condition makes itself known in different ways. Some of the most common signs of a urological or renal condition are:


Pain during passing urine

Frequent bed wetting

Blood in urine

High blood pressure

Fever

Swelling around the eyes, face, feet and ankles

Significant increase in the frequency of urination


If any of these signs present themselves some common tests that are performed on kids to help diagnose their urological or renal conditions include:

VCUG - voiding cysto urethrogram

Ultrasound

MAG3 scan

When it comes to pediatric urological or renal conditions two things that parents can do to help their children: be aware and communicate. Remember kids might not be able to communicate what is going on with their body or they might be scared. If parents are aware of these signs they can ensure their child gets the care they need sooner.

Later this year, a comprehensive Pediatric Urology & Nephrology Center will open to help future patients navigate their complex medical conditions. Miller Children’s is one of a few select children’s hospitals in Southern California to ensure these program experts are constantly connected, which in turn will improve patient outcomes in the prevention, diagnosis and treatment of urological and renal conditions. Miller Children’s continues to provide high-quality patient care and carry on innovative research in all areas of urology and nephrology.

If your child presents signs of any urological or renal condition, call your pediatrician as your child may require pediatric urologist or nephrologist.

For more information, visit MillerChildrens.org or call I 800-MEMORIAL.




From Renal And Urology News, by Natasha Persaud, Digital Content Editor
Early Death in Dialysis Patients Linked to High Calcium, Phosphorus

Dialysis patients who have high concentrations of serum calcium and phosphorus are at elevated risk of dying early, a new study finds. Whether controlling hypercalcemia andhyperphosphatemia would improve outcomes remains to be seen, however, and should be assessed by future studies.

The Centers for Medicare and Medicaid Services (CMS) recently finalized a rule that includes uncorrected serum calcium greater than 10.2 mg/dL as a quality measure within the Quality Incentive Program for end-stage renal diseasestarting in 2016. In the new study, researchers found that both uncorrected and corrected serum calcium levels of 10.2 mg/dL and above identified patients at increased risk of premature death.

The team led by Matthew B. Rivara, MD, of the Kidney Research Institute at the University of Washington in Seattle analyzed data from 119,010 hemodialysis patients and 10,066 peritoneal dialysis patients treated at DaVita, Inc., facilities from July 2001 to June 2006.

Both low and high levels of uncorrected calcium were associated with excess mortality, according to results published online in the Journal of the American Society of Nephrology. Adjustment for serum albumin lessened the association for low serum calcium (less than 8.5 mg/dL) and strengthened the association for high serum calcium of 10.2 mg/dL and above.

Serum phosphorus levels of 6.4 mg/dL and greater were also linked to increased mortality, the researchers found. The dialysis method did not appear to influence any of the results.

In dialysis patients, serum calcium can rise to high levels due to hyperparathyroidism, use of dialysate with calcium concentrations above 1.5 mmol/L, or use of medications such as calcium-containing phosphate binders. All of these are modifiable in clinical practice.

According to the investigators, high serum calcium could contribute to adverse clinical outcomes in many ways. It might promote vascular calcification, leading to atherosclerosis; alter smooth muscle tone, leading to hypertension; accelerate cell death; and impair white blood cells, promoting infection-related complications.

Hyperphosphatemia, likewise, may contribute to vascular calcification and/or infection via accelerated cell death and reductions in T lymphocytes.

Another possibility is that serum calcium is simply a marker for a “complex interplay” between phosphorus, parathyroid hormone, vitamin D and its metabolites, and fibroblast growth factor 23, according to the researchers. In that case, lowering serum calcium may not improve outcomes. [Read more]



From The PharmaLetter

Long-term solutions needed for kidney disease, says EAF report

Greater education and support for non-specialist health care professionals is needed to ensure the accurate diagnosis of autosomal dominant polycystic kidney disease (ADPKD), a chronic, progressive, inherited disease in which fluid-filled cysts grow in the kidneys and liver, according to a new report released today.

The European ADPKD Forum (EAF), an international, multidisciplinary panel of experts from the fields of nephrology, hepatology and genetics, has produced the report titled,Translating Science into Policy to Improve ADPKD Care in Europe. It details the role of health care professionals to improve the development and delivery of ADPKD care, and provides an overview of the current management of ADPKD throughout Europe.
VARIATION IN STANDARDS

The publication highlights the variation of clinical standards throughout Europe and identifies the need for greater education and support for non-specialist health care professionals to ensure the accurate and appropriate diagnosis and treatment of ADPKD and ADPKD-related symptoms. These include pain, infections of cysts and the urinary tract, kidney stones, blood in the urine, and abdominal distension. ADPKD patients may also present with cardiovascular symptoms as they are at high risk of developing hypertension and cardiovascular disease. The report also highlights that polycystic kidneys cause kidney failure in the majority of patients, and that delaying the progression of the disease would improve patient outcomes and cost efficiencies for health services.

Richard Sandford, consultant clinical geneticist at Addenbrooke’s Hospital, Cambridge, UK, and co-chair of the EAF, said: “The management of ADPKD is currently based on the general management of declining renal function and the symptoms associated with the condition. Disease specific treatments are not currently available. Care pathways are fragmented across the EU and specialist knowledge of the disease itself remains limited. Innovative, long-term solutions should be sought to improve patient outcomes, and meet the financial and societal challenges that ADPKD represents.”

RECOMMENDATIONS

The following recommendations, captured in the Brussels Declaration on ADPKD which is being launched today alongside the report as a stand-alone EU policy action plan, aim to help address the existing unmet needs and to promote access to high-quality care for all patients with ADPKD in Europe:

The implementation of tiered care: Governments should support the development of a nationally coordinated, tiered approach to ADPKD care in collaboration with experts, patient advocacy organizations and other stakeholders, in line with the European Commission (EC) policy priority to address health inequalities

The establishment of specialist ADPKD centers: An expanded European Reference Network of specialist ADPKD centers should be established to facilitate further research and harmonized, integrated, patient-centered care pathways, ensuring best practice and consistency of care
Supporting therapeutic innovation: The EC and national governments should support research to develop disease-modifying treatments with the potential to maintain quality of life, delay renal decline and improve life expectancy among patients, and to reduce the economic impact on healthcare systems

Prioritization of prognosis: Governments and healthcare providers should support the routine implementation of methods to assess prognosis in ADPKD to inform clinical decision making, research and innovation

Empowering patients: All stakeholders, including the European Commission, national governments and healthcare providers, should support efforts to better inform individual patients and families affected by ADPKD, and to involve patient organizations in policy making regarding healthcare planning and delivery related to ADPKD

Engaging patients in health technology assessment: Health Technology Assessment (HTA) organizations should seek to engage ADPKD patient organizations in their assessments in order to consider their unique knowledge about the impact of living with ADPKD, and their aspirations for new treatments, according to the HTA International Quality Standards for Patient Involvement in HTA [Read more]



From The Hindu, Chennai, India

Kidney disease remains a death call in India: K.V. Johny

Kidney or renal transplantation has become a fairly common procedure, with several hospitals across the country equipped to perform live and deceased donor transplantations.

In 1971, when K.V. Johny, one of India’s first nephrologists, started performing the procedure, the situation was very different.

Dr. Johny, who was then with the Christian Medical College, Vellore, is credited with performing the first successful renal transplant in the country along with his colleague, M Mohan Rao. The patient, Shanmugam from Coimbatore, had Adult Polycystic Kidney Disease and received a kidney from a relative

Recalling the first surgeries, he said, “We needed two operating theatres, one for the donor and one for the recipient. Theatres were scarce, so all operations were at night”.

“After the procedure, we would sleep next to the patient until we were sure the kidney had been accepted,” Dr. Johny said. In the first year, they performed 100 procedures.

Dr. Johny studied nephrology in Australia and was the first person recognised by Madras University as a nephrologist. Since the 1970s, kidney transplantation has come a long way. But, Dr. Johny says, there is still a long way to go.

With the burden of kidney disease in the country increasing, and 95 per cent of the patients dying before they get any medical care, Dr. Johny termed kidney disease in India ‘a death call’.

Dr. Johny, on Sunday, delivered the Krishnan Ang TANKER Foundation Endowment Lecture at the TANKER Annual Charity and Awards Night. Dr. Johny, Sreejith Parameswaran, nephrologist, JIPMER; Sunder Subramaniam, founder and chairperson, Freedom Trust; and Sunil Shroff, founder, Mohan Foundation, were presented awards for their contributions.

Dr. Johny, who performed the first successful renal transplant in India, said much remains to be done in the field



PKD Research

From Examiner.com, by Eve-Angeline Mitchell

99 Lives project looks for secrets of certain diseases inside the genes of cats

The 99 Lives project is looking for genetic material from 99 domestic cats, to see what secrets they reveal about certain diseases common to both humans and cats.

The 99 Lives project is looking for genetic material from 99 domestic cats, to see what secrets they reveal about certain diseases common to both humans and cats.

Cats help us in all sorts of ways. Having a cat is often therapeutic, because stroking them and listening to them purr relieves stress. They also help us catch bugs indoors, and they'd even clean our plates for us if we'd let them. Now, with gene sequencing, cats can help us fight some diseases that affect not only cats, but people as well.

The project is called 99 Lives, and its goal, according to a Jan. 24, 2015 article in The Guardian, is to find out the exact genetic profiles of 99 domestic cats. The researchers hope that these genetic profiles will result in our ability to develop new treatments, appropriate for cats and humans, for several different diseases.

The feline genome sequence project was completed over the summer of 2014, thanks to an Abyssinian cat named Cinnamon, along with a couple of others. That's the research that concluded domestic cats are still partly wild.According to iO9, many parts of the feline genome remain unchanged since cats first started living with humans. This research is what's helping to fuel 99 Lives.

According to the 99 Lives page on The Lyon's Den website, the project is a public research project. They have a list of requirements and limitations for sending samples, too. Specifically, they want the ovaries or testicles of feral or stray cats. They believe that this is the best way of getting a true representation of various regions. They do not want tissue from purebred cats or cats that are related to each other.

Potential participants need to contact Dr. Leslie Lyons at the University of Missouri when they have 30 samples. Based on this information, it's veterinarians, who work with trap-neuter-return caregivers, who will be most able to help out 99 Lives.

The Guardian says that one of the reasons Dr. Lyons (and others) is so interested in this is because she's one of the researchers who discovered the genetic mutations that lead to polycystic kidney disease (PKD). PKD afflects both humans and cats, and the mutations that cause it occur on the same gene in both humans and cats.

Lyons said that there's a lot of variation in the progression of PKD in humans and cats. She hopes that, once we have a better understanding of how the gene mutation works, we'll be able to design drugs to combat it that are suitable for humans and cats. That won't be limited to PKD or HIV and FIV, either, but also diabetes, asthma, and even some causes of blindness.

No comments:

Post a Comment