Study Design And Subjects
We performed a cross-sectional, single-center, observational study, without control group, that includes patients aged at least 18 years with diagnosis of CF, afferent to the CF center at the University Hospital Policlinico Umberto I of Rome, Sapienza University of Rome, Italy. Prospective data collection for each subject occurred within a 36 months time period and included clinical, laboratory and instrumental parameters.
Are There Different Types Of Pkd
Yes. The three main types of PKD are:
- Autosomal Dominant PKD
This form of the disease is passed from parent to child by dominant inheritance. In other words, only one copy of the abnormal gene is needed to cause the disease. Symptoms usually begin between the ages of 30 and 40, but they can begin earlier, even in childhood. ADPKD is the most common form of PKD. In fact, about 90 percent of all PKD cases are ADPKD.
- Infantile or Autosomal Recessive PKD
This form of the disease is passed from parent to child by recessive inheritance. Symptoms can begin in the earliest months of life, even in the womb. It tends to be very serious, progresses rapidly, and is often fatal in the first few months of life. This form of ARPKD is extremely rare. It occurs in 1 out of 25,000 people.
- Acquired Cystic Kidney Disease
ACKD can happen in kidneys with long-term damage and severe scarring, so it is often associated with kidney failure and dialysis. About 90 percent of people on dialysis for 5 years develop ACKD. People with ACKD usually seek help because they notice blood in their urine. This is because the cysts bleed into the urinary system, which discolors urine.
Diagnosis Of Cystic Fibrosis
Immunoreactive trypsin testIRT in neonatal age was performed. The genetic variants of CFTR were analysed by sequencing analysis and multiple ligation-dependent probe amplification if necessary 17/19 and IR/Del sequencing were performed ). If the mutation is not among the most common has been necessary to carry out molecular investigation of the whole gene for identifying exon deletions.
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What You Need To Know About Fatty Liver Disease
If a fatty liver disease diagnosis is made, your doctor will perform a series of tests to identify the cause of the condition. These may include a CT scan, blood test, liver enzymes test, albumin level, serum creatinine, and urine test. Blood tests may also reveal symptoms such as high calcium, low albumin, or polydipsia. Once these symptoms are present, your doctor will evaluate them to determine if you do have fatty liver disease and what course of treatment is appropriate.
Some factors that are known to cause fatty liver disease include being overweight or obese, being a woman, and being over 50 years of age. People who smoke cigarettes or use other tobacco products are at increased risk of developing this condition. There are also other risk factors that are not well understood but include genetic tendencies toward obesity and polydipsia. Other risk factors that are associated with this disease include being older than 50 years of age and having an unhealthy body mass index. Obese people are at greater risk than thinner people for developing fatty liver disease because obese people have excess fat deposits around their bellies, hips, and thighs.
About one of every five Americans has a fatty liver, which is also called steatosis. In fact, up to 9 of every 10 diabetics and people with obesity have fatty liver.
Here are the details of each of these disorders:
Does Everyone With Pkd Develop Kidney Failure
No. About 50 percent of people with PKD will have kidney failure by age 60, and about 60 percent will have kidney failure by age 70. People with kidney failure will need dialysis or a kidney transplant. Certain people have an increased risk of kidney failure including:
- patients with high blood pressure
- patients with protein or blood in their urine
- women with high blood pressure who have had more than three pregnancies
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How Is Cystic Fibrosis Diagnosed
Most cases of cystic fibrosis are found during newborn screening. Inaddition to a complete medical history and physical exam, tests for CFinclude a sweat test to measure the amount of sodium chloride present. Higher than normal amounts of sodium and chloride suggest CF.Other tests depend on which body system is affected and may include:
Chest X-rays, ultrasound, and CT scans
A healthy diet that’s high in calories
Pancreatic enzymes to aid digestion
Treatments for intestinal blockages
Two new therapies have recently been approved specifically for thetreatment of lung disease in CF. Speak with your healthcare provider todetermine if these medicines are right for you.
Lung transplant may be a choice for people with end-stage lung disease. Thetype of transplant done is usually a heart-lung transplant, or a doublelung transplant. Not everyone is a candidate for a lung transplant. Discussthis with your healthcare provider.
How Does Cystic Fibrosis Affect The Body
The mutated gene that causes cystic fibrosis affects a protein that helps with salt regulation across cells. In addition to losing more salt through sweat than is normal, the mutation affects how salt and water move through channels in the body, leading to changes in mucus.
Normally, mucus in the airways helps to move harmful bacteria or dust out of the lungs and also helps move waste through the intestines. In a person with cystic fibrosis, the mucus is very sticky and cant facilitate this movement of particles. This leads to infections or blockages.
Most of us just swallow a little bit of mucus and fluid all the time it happens so seamlessly that we never even notice it, Dr. Egan says. But for someone with cystic fibrosis, it can feel like you are always sick. with lots of mucus to cough up.
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The Typical Treatments How Does Cystic Fibrosis Affect The Kidneys
The primary treatment for fatty liver disease is surgery. This involves removing or dissolving the fatty liver cell. Surgery can be used for treating both severe and moderate cases. But the downside to surgery is that it can leave you with scarring that could impede your progress in losing weight and even your ability to stand up.
A more common way to diagnose fatty liver disease is through the use of liver function tests called a CT scan and an MRI. These tests will show whether or not your liver is functioning to its fullest capacity. If it shows signs of inflammation then your doctor may want to prescribe medication that will reduce inflammation. If there is fluid buildup in your abdomen, then your doctor may use a procedure called a liposuction to remove some of the fluid and reduce the swelling in the abdominal area.
The diagnosis of fatty liver is a little more tricky. A biopsy of your liver from the abdominal area will reveal inflammation, but it might not be fatty liver. It could be something else like hepatitis B or C, or even HIV if it is contained in its early stages. If the biopsy indicates the presence of fatty liver, then your doctor will conduct a trial of anti viral medication to make sure that the hepatitis does not develop into cirrhosis of the liver which would be very serious.
Should People With Pkd Take A Special Diet
At present, no specific diet is known to prevent cysts from developing in patients with PKD. Reducing salt intake helps control blood pressure in PKD patients who have high blood pressure. A diet low in fat and moderate in calories is recommended to maintain a healthy weight. Speak to your doctor or a dietitian about other changes to your diet, such as avoiding caffeine.
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What Are The Potential Risks Of A Lung Transplant
A lung transplant is a complex procedure. Some of the primary risks are:
- Organ rejection: Your immune system will treat your donor lungs as foreign and try to destroy them, unless you take antirejection drugs. While organ rejection is most likely to happen within the first six months after your surgery, youll have to take antirejection drugs to suppress your immune system for the rest of your life.
- Infection: Antirejection medications dampen your immune system, increasing your chances of developing infections.
- Other diseases: Because antirejection medications suppress your immune system, youll also be at increased risk of cancer, kidney disease, and other conditions.
- Problems with your airways: Sometimes, blood flow from your airways to your donor lungs may be restricted. This potential complication may heal on its own, but if not, it can be treated.
In men, antirejection medications can cause birth defects in their children. Women who have had a lung transplant may be at risk of serious complications during pregnancy.
What You Need To Know
Cystic fibrosis is an inherited disease characterized by an abnormality in the glands that produce sweat and mucus.
Cystic fibrosis affects various organ systems in children and young adults, including the respiratory system, digestive system and reproductive system.
Due to improved treatments, people with cystic fibrosis, on average, live into their mid to late 30s.
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How They Did It
Bonventre and colleagues studied the transition from acute to chronic kidney disease in mice, using extracted epithelial cells and analyzing which genes were active when.
They observed that as kidney fibrosis progresses, a critical compartment is formed within kidney cells: the rapamycin-autophagy spatial coupling compartment, called TASCC.
The scientists found that cyclin G1 , a protein involved in regulation of cell cycle arrest, also plays a role in triggering the formation of TASCCs.
Their experiments showed that in the presence of TASCC, the secretion of fibrosis-promoting factors increased. Blocking the formation of TASCCs reduced the severity of kidney fibrotic disease progression in preclinical models.
The studies in mice were complemented by research in a group of patients suffering from chronic kidney disease who had developed progressive fibrotic lesions.
Compared to control subjects, the kidney tissue of these patients had more kidney cells arrested in the G2/M phase of the cell cycle. These cells contained TASCCs. Further supporting the significance of this link, TASCC-containing cells were also found in patients with acute kidney injury.
Living With Cystic Fibrosis
In addition to routine immunizations, regular flu vaccines, the pneumonia vaccine, and other appropriate vaccines are important to help reduce the chance of infection.
Long-term suppressive inhaled antibiotics may be recommended to prevent lung infections.
Medicines may be needed to help with digestion.
Vitamin and mineral supplements may be recommended.
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Salty Skin As A Symptom Of Cystic Fibrosis
People with cystic fibrosis tend to have two to five times the normal amount of salt in their sweat, so often the first CF symptom parents notice is that they taste salty when they kiss their baby.
The salty skin of babies with cystic fibrosis is so distinctive that an ancient folk saying from Northern Europe is: Woe to that child which when kissed on the forehead tastes salty. He is bewitched and soon must die.”3,4
Should Women With Pkd Get Pregnant
Most of the women with PKD have successful and uneventful pregnancies. However, some women with PKD have an increased risk for serious complications for themselves and their babies. This includes women with PKD who also have:
- high blood pressure
Women who have PKD with high blood pressure develop pre-eclampsia in 40 percent of pregnancies. This is a life-threatening disorder for both the mother and baby, and it can develop suddenly and without warning. Therefore, all women with PKD, particularly those who also have high blood pressure, should be followed closely during their pregnancy by their doctor.
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Patients And Data Collection
The study was conducted in two adult CF centers in the Paris area . Using a computerized database, we identified patients who had CF and underwent biopsy of native kidneys between January 1992 and December 2007. Patients medical records were reviewed, and relevant data were collected.
Hypertension was defined as BP > 140/90 mmHg. Diagnosis of the nephrotic syndrome was established on proteinuria > 3 g/24 h and serum albumin < 30 g/L. Renal failure was defined as serum creatinine > 100 mol/L. GFR was estimated using the Modification of Diet in Renal Disease simplified formula, even though this formula as well as the Cockroft-Gault formula and SCr level have not been assessed in patients who have CF and frequently exhibit gross malnutrition and low muscle mass. Severity of respiratory involvement was assessed by the forced expiratory volume in 1 s and the forced vital capacity . Diagnosis of diabetes was based on conventional World Health Organization criteria.
Follow-up duration was measured from the time of kidney biopsy until the recorded date of death or, in living patients, the date of the last follow-up visit. For genetic studies, a limited testing within CFTR had been applied routinely in most cases. including the research for the eight to 10 mutations most commonly found in European population.
What Causes Cystic Fibrosis
Cystic fibrosis is a genetic disease. This means that CF is inherited.
Mutations in a gene called the CFTR gene cause CF. The CFTR mutations causes changesin the bodyâs cellâs electrolyte transport system. Electrolytes aresubstances in blood that are critical to cell function. The main result ofthese transport system changes are seen in the body secretions, such asmucus and sweat.
The CFTR gene is quite large and complex. There are many differentmutations in this gene that have been linked to CF.
A person will be born with CF only if 2 CF genes are inheritedâone from themother and one from the father.
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How Does Cf Affect The Reproductive System
Most males with CF have blockage of the sperm canal. This is calledcongenital bilateral absence of the vas deferens . This results fromthe thick secretions clogging the vas deferens and keeping them fromdeveloping properly. It causes infertility because sperm can’t travel outof the body. There are some newer techniques that allow men with cysticfibrosis to have children. These should be discussed with your healthcareprovider. Women also have an increase in thick cervical mucus that may leadto a decrease in fertility, although many women with CF are able to havechildren.
Are The Kidneys At Risk In Patients With Cystic Fibrosis
Music City USA is home to The Grand Ole Opry, The Music Hall of Fame and from October 31st to November 2nd, was home to the 2019 North American Cystic Fibrosis Conference . More than 5,000 researchers and care providers from around the world gathered for the 33rd annual conference and as a first time attendee, NACFC quickly won my heart.
The timely FDA approval of the newest triple modulator therapy, Trikafta , was a large focus of the conference and rightly so. Cystic Fibrosis is an autosomal recessive genetic defect caused by a mutation in the cystic fibrosis transmembrane regulator gene. CFTR is primarily responsible for the transport of chloride into the interstitium of sweat duct glands. Patients with CF have absent, faulty, or reduced number of CFTR channels resulting in thick, stickier mucus production. The lungs are the primary organ affected by a buildup of thick mucus due to reduced mucociliary clearance leading to chronic infection, long term use of antibiotics and steady respiratory decline.
The RIFLE criteria is as follows: Risk = serum creatinine increase by factor of 1.5 Injury = serum creatinine increase by factor of 2 Failure = serum creatinine increase by factor of 3Loss = Loss of function x4 weeks ESKD = for > 3 months
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Key Points About Cystic Fibrosis
Cystic fibrosis is an inherited life-threatening disease that affects many organs. It causes changes in the electrolyte transport system which causes cells to absorb too much sodium and water.
CF is characterized by problems in the glands that produce sweat and mucus.
A person will be born with CF only if 2 CF genes are inheritedâone from the mother and one from the father.
All U.S. states require that newborns be tested for cystic fibrosis . This is how most cases are diagnosed.
CF causes thick mucus that clogs certain organs, such as the lungs, pancreas, and intestines. This may cause malnutrition, poor growth, frequent respiratory infections, breathing problems, and chronic lung disease.
There is no cure for CF. Goals of treatment are to ease symptoms, prevent and treat complications, and slow the progress of the disease.
CF can cause many different problems and long-term complications.
There is no way to prevent CF.
People with CF will work closely with a medical team to manage symptoms and stay as healthy as possible.
What Makes Yale Medicines Approach To Treating Cystic Fibrosis Unique
Having cystic fibrosis can mean a lot of time spent with doctors, and Yale Medicine has developed ways to make sure that time is spent as efficiently as possibleand is a more comfortable experience for kids, too. One way is by mapping out appointments so families can see specialists at the Cystic Fibrosis Program on the same day, during the same visit.
As a team, we really try to coordinate so we can get all of those visits lumped together, so you miss one day of school as opposed to multiple days, Dr. Egan says. We understand that sometimes means you spend a long time when you come one day, but we try to make the most of that one school day youre giving up.
Yale Medicine also offers a Buddy Program, which pairs medical students with cystic fibrosis patients visits scheduled for the same day as well. In addition to providing the child with yet another supportive relationship , this also gives students a better understanding of what its like to have a chronic illness.
Theyre here just to support the child, Dr. Egan says. We try to match their interests, and it gives the child something like a big brother or big sister experience. So while all these adults want to talk, they have somebody who is really their buddy.
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