“Williams syndrome (WS) is a genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning challenges. These often occur side by side with striking verbal abilities, highly social personalities, and an affinity for music. WS occurs equally in males and females and in all cultures worldwide.”
Williams Syndrome Association (What is Williams syndrome? | Williams Syndrome Association)
Williams syndrome (WS) is a genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities. The most significant medical problem associated with WS is the cardiovascular disease caused by the narrowed arteries. WS is also associated with elevated blood calcium levels in infancy. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder. Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome 7 in each cell is sufficient to cause the disorder. In a small percentage of cases, people with Williams syndrome inherit the chromosomal deletion from a parent with the condition.
Most cases of Williams syndrome are not inherited but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family.
However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children. These often occur side by side with striking verbal abilities, highly social personalities and an affinity for music.
WS affects 1 in 7,500 – 10,000 people worldwide – an estimated 20,000 to 30,000 people in the United States. It is known to occur equally in both males and females and in every culture.
Unlike disorders that can make connecting with your child difficult, children with Williams syndrome tend to be social, friendly and endearing. Parents often say the joy and perspective a child with WS brings into their lives had been unimaginable.
But there are major struggles as well. Many babies have life-threatening cardiovascular problems. Children with WS need costly and ongoing medical care and early interventions (such as speech or occupational therapy) that may not be covered by insurance or state funding. As they grow, they struggle with things like spatial relations, numbers, and abstract reasoning, which can make daily tasks a challenge. As adults, most people with Williams syndrome will need supportive housing to live to their fullest potential. Many adults with WS contribute to their communities as volunteers or paid employees; often working at assisted living homes for senior citizens, hospitals and libraries, or as store greeters or veterinary aides.
However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children. The characteristic facial features of WS include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. People with WS are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with WS have a star-like pattern in the iris of their eyes. Infants with WS are often irritable and colicky, with feeding problems that keep them from gaining weight. Chronic abdominal pain is common in adolescents and adults. By age 30, the majority of individuals with WS have diabetes or pre-diabetes and mild to moderate sensorineural hearing loss (a form of deafness due to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood. WS also is associated with a characteristic “cognitive profile” of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction (the skills used to copy patterns, draw, or write). Most older children and adults with WS speak fluently and use good grammar. More than 50% of children with WS have attention deficit disorders (ADD or ADHD), and about 50% have specific phobias, such as a fear of loud noises. The majority of individuals with WS worry excessively.
Unfortunately there is no cure for Williams syndrome, nor is there a standard course of treatment.
The prognosis for individuals with WS varies. Some degree of impaired intellect is found in most people with the disorder. Some adults are able to function independently, complete academic or vocational school, and live in supervised homes or on their own; most live with a caregiver.
Where you can find additional information about Williams syndrome:
You may find the following resources about Williams syndrome helpful. These materials are written for the general public.
“”Chronic kidney disease (CKD) affects more than 1 in 7 U.S. adults—an estimated 35.5 million Americans.1 For Americans with diabetes or high blood pressure—the two most common causes of kidney disease—the risk for CKD is even greater. About 1 in 3 people with diabetes and 1 in 5 people with high blood pressure have kidney disease.1 Other risk factors for developing kidney disease include heart disease and a family history of kidney failure.
Despite the prevalence of kidney disease in the United States, as many as 9 in 10 adults who have CKD are not aware they have the disease.1 Early-stage kidney disease usually has no symptoms, and many people don’t know they have CKD until it is very advanced. Kidney disease often gets worse over time and may lead to kidney failure and other health problems, such as stroke or heart attack. Approximately 2 in 1,000 Americans are living with end-stage kidney disease (ESKD)—kidney failure that is treated with a kidney transplant or dialysis.”
National Institute of Diabetes and Digestive and Kidney Disease NIH-NIDDK (https://www.niddk.nih.gov/health-information/health-statistics/kidney-disease)”
Chronic kidney disease occurs when a disease or condition impairs kidney function, causing kidney damage to worsen over several months or years.
Diseases and conditions that cause chronic kidney disease include:
A UACR urine test isn’t always part of a routine health screening and is different from usual urinalysis tests that are commonly used at doctor appointments, so be sure to ask your healthcare provider specifically for a UACR urine test.
Factors that may increase your risk of chronic kidney disease include:
Chronic kidney disease can affect almost every part of your body. Potential complications may include:
To reduce your risk of developing kidney disease:
“Kidney failure is a condition in which one or both of your kidneys no longer work on their own. Causes include diabetes, high blood pressure and acute kidney injuries. Symptoms include fatigue, nausea and vomiting, swelling, changes in how often you go to the bathroom and brain fog. Treatment includes dialysis or a kidney transplant.”
Cleveland Clinic (Kidney Failure: Stages, ESRD, Causes, Symptoms & Treatment)
In giving a short and easily understandable definition Chronic kidney disease happens when your kidneys no longer filter your blood the way they should, so wastes (toxins, usually end products of an acid) build up in your blood. This has probably been going on for years, and it may keep getting worse over time. Just like a car engine damaged but still using the car without getting the engine repaired sooner or later in time the engine no longer functions the same with any organ of the body getting damaged by some long term condition. If your disease gets worse and worse over time, you could have kidney failure or some multi organ failure, depending on the condition causing this.
-recurring pyelonephritis (kidney infection)
-polycystic kidney disease (multiple cysts in the kidneys
-autoimmune disorders such as systemic lupus erythematosus.
-hardening of the arteries, which can damage blood vessels in the kidney.
-Remove excess water, wastes (like urea, ammonia, etc.) & other substances from your blood.
-Return substances like sodium, potassium or phosphorus to the body whenever any of these substances run llow in your body or do the opposite if they run high to evacuate them through voiding dumping the sodium or phosphorus or potassium in the urinary bladder through the tube from the kidneys to the urinary bladder called ureters.
**If nephrons are damaged by the high sugar content or high blood pressure in the kidneys, they stop working. For a while, healthy nephrons can take on the extra work or overload. But if the damage continues, more and more nephrons shut down. After a certain point, the nephrons that are left cannot filter your blood well enough to keep you’re blood filtered properly to keep you healthy. Just like running from a bear in the street chancing you. We can run only so long but sooner or later we will run out of energy and not be able to run anymore, same concept for the kidney nephrons when they run out of enough energy due to the kidneys not properly working.**
The symptoms can be:
Urinate less than normal.
Have swelling and weight gain from fluid buildup in your tissues. This is called edema.
Feel very tired or sleepy.
Not feel hungry, or you may lose weight without trying.
Often feel sick to your stomach (nauseated) or vomit.
Have trouble sleeping.
Have headaches or trouble thinking clearly.
So what will you do GO TO A DOCTOR OR CALL 911 AND GO TO THE ER:
Your doctor will do blood and urine tests to help find out how well your kidneys are working. These tests can show signs of kidney disease and anemia. (You can get anemia from having damaged kidneys.) You may have other tests to help rule out other problems that could cause your symptoms.
To diagnose chronic renal failure is pretty much the same tests that are listed above on acute renal failure plus:
Chronic kidney disease is also called chronic renal failure or chronic renal insufficiency.There are five stages of kidney disease, from kidney damage with normal GFR to kidney failure. So GFR will help the MD rule out acute versus chronic to give the MD direction on Rx.Your doctor will ask questions about any past kidney problems. He or she will also ask whether you have a family history of kidney disease and what medicines you take, both prescription and over-the-counter drugs.
Diagnosis & Treatment (Rx) for Chronic Kidney (Renal) Failure (CRF):
There are things you can do to slow or stop the damage to your kidneys. Taking medicines and making some lifestyle changes can help you manage your disease, prevent further damage to the kidneys, if their functioning at all and make you possibly feel better.
Kidney disease is a complex problem. You will probably need to take a number of medicines and have many tests. To stay as healthy as possible, take your medicines just the way your doctor says to and work closely with your doctor.
Go to all your appointments for the MD to see a increase in function or decrease in function of your kidney or kidneys you have still functioning to a level. To do that you can’t just go every 6 months especially when first diagnosed with it or with a collapse of an exacerbation of kidney failure in a worse level that brought on new symptoms that brought you to the ER.
Lifestyle changes are an important part of your treatment. Taking these steps can help slow down kidney disease and reduce your symptoms. These steps may also help with high blood pressure, diabetes, and other problems that make kidney disease worse or made the kidney disease happen with the secondary diagnosis you had originally for years (ex. Hypertension or Diabetes if not both especially is uncontrolled)
Very hard, never a complete 100 % resolution. It is like emphysema done by smokers the damage is done or like a heart attack the area of the infarction=damage is already done to the heart muscle.
Scared now, understandable but unfortunately the damage is done, so its get the organ to its optimal level of functioning or replace the damaged kidney (s) through a transplant of one. You need to know this, do it if you want to live LONGER. Remember fear is fear itself, the fear run it over and deal with what you have and make your life longer & better! It’s all up to you. HANDSOME I know you can do it , I am there for you as a good friend and professional RN and I would love you to last longer John!! XO
You may have a test done that lets your doctor look at a picture of your kidneys, such as an ultrasound or CT (Cat Scan of the kidneys). These tests can help your doctor measure the size of your kidneys, estimate blood flow to the kidneys, and see if urine flow is blocked. In some cases, your doctor may take a tiny sample of kidney tissue (biopsy) to help find out what caused your kidney disease.
Chronic kidney disease is caused by damage of the kidneys whether the cause of it be primary a Renal or Kidney problem or a secondary, another disease or disorder that affects the kidneys in doing their job, like hyperglycemia related to a individual with uncontrolled diabetes, for instance.
Chronic kidney disease may seem to have come on suddenly. But it has been happening bit by bit for many years as a result of damage to your kidneys.
One way to measure how well your kidneys are working is to figure out your glomelular filtration rate (GFR). The GFR is usually calculated using results from your blood creatinine test.
Then the stage of kidney disease is figured out using the GFR (glomelular filtration rate). There are five stages of kidney disease, from kidney damage with normal GFR to kidney failure.
Your doctor will do tests that measure the amount of urea (BUN) and creatinine in your blood. These tests can help measure how well your kidneys are filtering your blood. As your kidney function gets worse, the amount of nitrogen (shown by the BUN test) and creatinine in your blood increases. The level of creatinine in your blood is used to find out the glomerular filtration rate (GFR). The GFR is used to show how much kidney function you still have. The GFR is also used to find out the stage of your kidney disease your in if you have it and its to guide decisions about treatment. *
“Acute kidney injury happens when the kidneys suddenly can’t filter waste products from the blood. When the kidneys can’t filter wastes, harmful levels of wastes may build up. The blood’s chemical makeup may get out of balance.
Acute kidney injury used to be called acute kidney failure. Acute kidney injury is most common in people who are in the hospital, mostly in people who need intensive care.
Acute kidney injury ranges from mild to severe. If severe, ongoing and not treated, it can be fatal. But it also can be reversed. People in otherwise good health may get back typical or nearly typical use of their kidneys.”
MAYO CLINIC (Acute kidney injury – Symptoms and causes – Mayo Clinic)
Kidney failure occurs when the kidneys lose their ability to function. To treat kidney failure effectively, it is important to know whether kidney disease has developed suddenly (acute) or over the long term (chronic). Many conditions, diseases, and medicines can create situations that lead to acute and chronic kidney disease. Acute kidney injury, also called acute renal failure, is more commonly reversible than chronic kidney failure since the chronic condition has lasted longer in the body affecting systems for several months to years (some decades). Acute Renal Failure is new to the body as opposed to chronic; making it higher odds this can be treated and cured.
When acute kidney injury (ARF) occurs, the kidneys are unable to remove waste products and excess fluids, which then build up in the body and upset the body’s normal chemical balance.*
-dehydration
-blood loss from major surgery or injury
-medicines such as nonsteroidal anti-inflammatory drugs (NSAIDs), antibiotics, or the dyes (contrast agents) used in X-ray tests.
If your signs and symptoms suggest that you have acute kidney failure, your doctor may recommend certain tests and procedures to verify your diagnosis. These may include:
Treatment for acute kidney failure typically requires a hospital stay. Most people with acute kidney failure are already hospitalized. How long you’ll stay in the hospital depends on the reason for your acute kidney failure and how quickly your kidneys recover.
In some cases, you may be able to recover at home.
Treatment for acute kidney failure (AKF) involves identifying the illness or injury that originally damaged your kidneys. Your treatment options depend on what’s causing your kidney failure.
Learn tomorrow Chronic Kidney Failure (CKF).
“National Kidney Foundation Recognizes March as National Kidney Month and World Kidney Day as it Celebrates a Key Milestone
New York City, NY – (March 10, 2025) — The National Kidney Foundation (NKF) is recognizing a special milestone this March during National Kidney Month. NKF is celebrating 75 years of transforming lives through kidney health advocacy, research, and innovation. As part of the celebration, NKF is launching “75+You” this Thursday, as part of World Kidney Day on March 13th, to rally communities nationwide in the fight against kidney disease and highlight how, together, we can make an impact on millions of lives.
Did you know that one in ten people will have a kidney stone over the course of a lifetime? Recent studies have shown that kidney stone rates are on the rise across the country. Those in the know believe that some major misconceptions may be the culprit.”
National Kidney Foundation (75 Years of Transforming Kidney Health | National Kidney Foundation & Six Easy Ways to Prevent Kidney Stones | National Kidney Foundation)
The kidneys are important organs with many functions in the body, including producing hormones, absorbing minerals, and filtering blood and producing urine. While they are important and kidney failure can be fatal, a human only needs one healthy kidney to survive.
The kidneys are two bean-shaped organs that extract waste from blood, balance body fluids, form urine, and aid in other important functions of the body.
They reside against the back muscles in the upper abdominal cavity. They sit opposite each other on either side of the spine. The right kidney sits a little bit lower than the left to accommodate the liver.
When it comes to components of the urinary system, the kidneys are multi-functional powerhouses of activity, for if the kidneys aren’t working, meaning they don’t filter toxic wastes out of our blood stream (with other functions it does) than the waste products don’t get dumped into the urinary bladder from the renal tubes, called right and left ureters. In human anatomy, the ureters are tubes made of smooth muscle fibers that propel urine from the kidneys to the urinary bladder. If the kidneys are not working they are not filtering our blood (same principle as filtering beer to make it to perfection, the kidneys do it for our blood to be able to have the cells do their function to the optimal levels with keeping toxins out of the body in preventing many blood problems with more due to acidosis (toxin build up). In the adult, the ureters are usually 25–30 cm (10–12 in) long and ~3–4 mm in diameter.
The kidneys have multiple functions! Some of the core actions of a healthy kidney or kidneys of a human body include:
