Hereditary kidney disease


Family members frequently want to know the possibility that they or their children may get a genetic ailment when one is identified in the family. The likelihood of inheriting a genetic disorder may seem uncomplicated. Still, it is occasionally possible for circumstances like a person’s family history and the findings of genetic testing to change that likelihood.

Additionally, some individuals with a disease-causing variation may never suffer any health issues or only display minor signs of the condition. It might be challenging to forecast a person’s chance of developing an illness that runs in the family if the ailment does not have a clear-cut inheritance pattern.

Understanding that each pregnancy carries the same risk of passing on a genetic disease is crucial. For instance, there is a 25% probability of having another kid with an autosomal recessive condition if a couple already has one (or 1 in 4). One affected child does not “prevent” other children from acquiring the illness. On the other hand, having a

kid without the disease does not always guarantee that subsequent offspring will be impacted.

How can you tell whether an illness runs in your family?

Determining if a disease in a family is hereditary is not always simple. If a condition has a hereditary component, a genetics expert can examine a person’s family health history (a collection of health data about a person’s immediate and extended relatives). He or she will inquire about the well-being of members of the family who are typically first-, second-, and third-degree relatives.

What Is Inherited Kidney Disease?

High blood pressure and diabetes both run in families. If a parent, grandparent, sibling, or other close family has been identified as having one or both of these diseases, you may be at risk for developing them yourself. You may be more susceptible to some hereditary kidney diseases if one or both of your parents has or has kidney disease.

The most frequent causes of kidney disease are diabetes and high blood pressure.

The kidneys can develop more than 300 hereditary diseases, many of which are extremely uncommon. Some have an impact exclusively on the kidneys, whereas others also have an impact on other organs.

Types of hereditary kidney diseases

There are more than 60 recognized hereditary kidney disorders, ranging from exceedingly uncommon illnesses to prevalent problems. Some kidney disorders that are inherited include:

1. Autosomal dominant polycystic kidney disease (ADPKD)

  • Autosomal dominant polycystic kidney disease is the most common genetic kidney condition (ADPKD).
  • Those who have ADPKD develop kidney cysts. Their kidneys gradually suffer damage as the cysts swell with fluid.
  • Before the age of 40, when kidney function measurements seem normal, doctors can identify ADPKD. But it’s vital to get guidance concerning ADPKD as soon as possible instead of waiting until kidney function starts to diminish.
  • Early intervention can stall the disease’s course for several years. Additionally, patients with ADPKD are more likely than others to get kidney infections, kidney stones, and blood in the urine.
  • A genetic kidney condition that is autosomal dominant and characterised by the development of several cysts in the kidneys. The degree of symptoms might vary. In most cases, symptoms appear between the ages of 30 and 40. Since ADPKD is a progressive condition, its signs and symptoms frequently worsen with time.
  • The most prevalent hereditary kidney disease is ADPKD. About 1 in 800 Americans has ADPKD, making it the fourth most common cause of kidney failure in the US. It affects both men and women equally and accounts for 5% of all kidney failures.

The most common symptoms of ADPKD are:

  • kidney cysts
  • back pain
  • headaches.

Other symptoms consist of:

  • liver and pancreatic cysts
  • urinary tract infections
  • abnormal heart valves
  • high blood pressure
  • kidney stones
  • brain aneurysms

In order to treat ADPKD, it is necessary to control the disease’s symptoms and delay its course. Renal disease and kidney failure are the most dangerous side effects of ADPKD.

2. Alport syndrome

  • It is a kidney-damaging hereditary disorder that runs in families. Genes encoding collagen protein undergo alterations (mutations), which result in Alport syndrome. To keep the kidneys operating normally, collagen, an essential protein, is required.
  • Due to damaged microscopic blood arteries in the kidney’s glomeruli, people with Alport syndrome cannot filter the body’s waste products and excess fluid. Due to mutations in the collagen genes, many persons with Alport syndrome also suffer from hearing issues and ocular anomalies.
  • Hereditary nephritis, also known as Alport syndrome, can be passed down from parents and can result in renal illness as well as other symptoms including hearing loss and/or vision loss.

3. Cystinosis

  • When a person inherits a defective copy of the cystinosin gene from each parent, an autosomal recessive hereditary condition called cystinosis results.
  • A accumulation of cystine can result in crystal formation in persons with cystinosis.
  • Cystinosis can have major negative effects on the kidneys, eyes, muscles, brain, heart, white blood cells, thyroid, and pancreas. Cystinosis damages kidney cells, resulting in Fanconi’s syndrome.
  • Extra electrolytes and amino acids are excreted in the urine of people with this disease.
  • Cystinosis is a rare illness that makes it possible for your body to accumulate the natural chemical cystine and harm your health. Cystinosis-related kidney damage might result in renal failure.
  • People with cystinosis may require a kidney transplant and must take medication to reduce their cystine levels.
  • Cystinosis is most frequently seen in newborns and is hereditary (runs in families).

4. Fabry disease

  • A hereditary condition that develops when the alpha GAL gene, which regulates the body’s capacity to produce the enzyme, is faulty.
  • Because of this, the body either produces little to no alpha GAL or the enzyme does not work effectively.
  • The kidneys, neurological system, and heart can all be impacted by Fabry disease. Men often experience more severe symptoms and are more likely to develop renal damage according to the Fabry disease’s mode of inheritance.
  • Women may experience no symptoms at all or minor ones. However, Fabry disease symptoms including neuropathic pain and digestive issues can still manifest in female patients. Women with Fabry disease also have a higher prevalence of heart disease.
  • Kidney damage brought on by Fabry’s disease might be challenging to identify. Heart illness, vision issues, a burning feeling on their skin, and potentially a reduced capacity to perspire are all common among Fabry’s disease patients.

Early detection and intervention are essential.

  • An enzyme that breaks down lipids, carbohydrates, proteins, and other things is absent in people with Fabry disease, a rare genetic illness. These compounds can cause problems with the heart, kidneys, skin, eyes, hearing, brain, and other organs when your body is unable to break them down. It could cause discomfort.

5. Gitelman syndrome

A genetic condition that is autosomal recessive and results from each parent passing a faulty copy of the SLC12A3 or CLCNKB gene to the child. Gitelman syndrome affects the kidneys and results in an imbalance of charged atoms (ions), including potassium, magnesium, and calcium ions. It is often detected in late adolescence or maturity.

Gitelman syndrome’s most typical signs and symptoms are as follows:

  • fatigue
  • salt craving
  • thirst
  • frequent urination
  • muscle cramping
  • muscle weakness
  • dizziness
  • tingling or numbness
  • low blood pressure
  • heart palpitations

6. Nephronophthisis

A genetic condition that affects kidney function is caused by inflammation and scarring on the autosomal recessive chromosome. These anomalies may result in the following:

  • heightened urination
  • excessive thirst
  • weakness
  • severe fatigue
  • In addition, individuals with nephronophthisis experience the development of fluid-filled kidney cysts, typically in the corticomedullary region.
  • Anemia, sometimes known as a lack of red blood cells, is another aspect of nephronophthisis.
  • Nephronophthisis typically progresses to kidney failure, a potentially fatal impairment of kidney function that happens when the kidneys cannot adequately filter fluids and waste products from the body.
  • Nephronophthisis can be categorized according to the estimated age at which kidney failure starts: infantile (about one year old), juvenile (approximately 13 years old), and adult (around 19 years old) (adolescent).

7. Tuberous sclerosis complex (TSC)

  • An defective copy of the TSC gene is inherited from one parent, resulting in an autosomal dominant genetic condition.
  • Tumors in the heart and brain, which are signs of tuberous sclerosis complex, can be seen on ultrasounds and appear before birth.
  • Intellectual impairment, developmental delay, and seizures typically first show up in childhood. Children may also have changes to their skin and renal issues brought on by tumours.
  • Brain tumours typically develop throughout adolescence and can cause additional issues including hydrocephalus. Kidney and pulmonary problems are increasingly prevalent as people age.

8. Focal segmental glomerulsclerosis

  • A genetic mutation can result in the uncommon glomerular illness known as focal segmental glomerulsclerosis (FSGS), which scars the glomeruli (small filters in your kidneys) and can cause kidney failure.
  • A condition called focal and segmental glomerulosclerosis (FSGS) causes urine to lose protein from the circulation. It can result in nephrotic syndrome, which causes significant body edoema and malnutrition.
  • Both inherited and non-hereditary causes of FSGS exist, and each is handled differently by specialists.
  • Glomerulonephritis is a condition in which your kidneys’ glomeruli, which are microscopic filters that clean your blood, get damaged and lose their capacity to do so. This can eventually lead to renal failure.
  • Glomerulonephritis can be brought on by a variety of medical conditions, and the reason will determine the appropriate course of therapy.

Inherited Kidney Disease Symptoms and Diagnosis

Symptoms of hereditary kidney disease can range from minor to severe. Some persons initially show no symptoms. They could begin or become worse with time. If you experience any of these signs, speak with your doctor right away:

  • the blood pressure is rising.
  • swelling in the ankles or feet.
  • weakness or drowsiness
  • headache or difficulty concentrating 
  • discomfort in the side or back.
  • a sense of weight or bloating in your stomach.
  • Your urination contains blood or appears frothy.
  • an alteration in the volume of urine you produce.
  • itchiness or cramping.

A fluid and waste buildup in your body may bring on these signs. They could indicate that your kidneys aren’t functioning properly.

Diagnosing inherited kidney disease

Your nephrologist can carry out the following examinations to identify a hereditary kidney disease:

  • Blood test: Using a sample of your blood, your doctor will determine the levels of several indicators, including serum creatinine, potassium, calcium, and phosphorus. It may be a sign that your kidneys are not functioning correctly if these levels are abnormally high or low.
  • Urine test – Your doctor will ask you to give a urine sample to examine it for albumin, a protein that can seep into the urine from damaged kidneys. You could have renal disease if there is albumin in your urine.
  • Genetic testing – A sample of your blood will be drawn by your doctor and sent to a laboratory to be examined for any genetic alterations. There will be testing for renal disease-related genes including APPL1. It can take a few weeks. The only surefire way to determine if you have a hereditary kidney disease is via genetic testing.
  • Some other techniques used by nephrologists are such as: Ultrasound, MRI, CT scan. Through these tests, your doctor may view images of your kidneys and determine their size, shape, and health.

Inherited Kidney Disease Treatment

The type of genetic illness you have and the stage of kidney disease you are in will determine the course of your treatment for genetic kidney disorders. Some renal genetic illnesses are modest and call for annual checkups with your doctor to keep an eye on your health. Other inherited kidney illnesses call for daily treatment, frequent renal dialysis, and/or a kidney transplant.

  • Medication – Additional drugs can be used to treat potential side effects such high blood pressure, discomfort, and stroke risk.
  • Enzyme replacement treatment – Your medical team may recommend enzyme replacement therapy if your hereditary illness affects the action of certain enzymes. Intravenous (IV) infusion delivers enzymes straight into your circulation. An infusion will be given to you every two weeks.
  • Lifestyle modifications – Your medical team may advise changes in your food and lifestyle to assist enhance kidney function and overall body health. These include of following a low-sodium diet, getting regular exercise, and abstaining from dangerous drugs like alcohol and cigarettes.
  • Counseling and education – Your physicians will inform you about the most recent research on hereditary kidney illnesses and how to manage your condition. They’ll give you advice on telling your family about this so they can be checked and treated if necessary. They’ll help you if you want to create a family as well.
  • Dialysis or kidney transplant – If kidney failure does occur, the nephrologist may recommend dialysis or a kidney transplant. Hemodialysis and peritoneal dialysis are both available in clinics or at home.

What causes inherited kidney disease?

  • Hereditary kidney disease is brought on by changes to your genes or the chromosomes that house your genes. Although these mutations can be passed on from parents to their children, they can also occur randomly on their own.
  • Every cell in the body has around 25,000 genes, including two copies of each gene – one from each parent.
  • Both copies of a gene must be mutated for a recessive hereditary illness to manifest. Additionally, it implies that each parent must have contributed one mutation.
  • If one copy of the gene had the mutation and the other copy did not, the parents may not have experienced the disease but are “carriers.”
  • Most patients with recessive hereditary disorders have parents who are free of the condition, although a family member may also be affected.
  • In dominant hereditary disorders, the disease can be caused by a mutation in just one copy of a gene.
  • Adults who have these mutations also have a normal copy of the gene. Each child has a 50% chance of inheriting the copy that has the mutation.

Inherited kidney disease risks and complications

The main risk factor for hereditary kidney disease is family history. However, other medical conditions might affect how severe your symptoms are and whether you develop consequences like renal failure.

Risk-raising circumstances include:

  • Diabetes
  • Heart condition
  • elevated blood pressure
  • infected kidneys
  • renal stones

If these disorders are not addressed, they can eventually cause end-stage renal disease and kidney damage. This indicates that you need dialysis or a kidney transplant since your kidney function can no longer meet your body’s requirements.

Hereditary kidney disease symptoms can be controlled by maintaining a healthy lifestyle and managing illnesses like diabetes and high blood pressure.

Testing for Inherited Kidney Diseases

A medical examination form known as genetic testing looks for alterations in genes, chromosomes, or proteins. An individual’s likelihood of getting or passing on a genetic ailment may be determined using the results of a genetic test, which can also confirm or rule out a suspected genetic condition. More than 77,000 genetic tests are already in use, and more are being created.

Genes and lifestyle choices affect your health:

Your parents are the source of your DNA. Your genetic makeup determines whether you’re tall or short and have brown or blue eyes. Additionally, diabetes, high blood pressure, and renal disease can all be caused by or prevented by your genes. A family history of diabetes, high blood pressure, or renal disease does not guarantee that you will develop any of these conditions.

You decide how you want to live each day based on your habits and lifestyle. Although we cannot alter our DNA, we may choose to lead healthy lives. This occasionally aids in combating genes that raise your chance of sickness. By adopting healthy decisions like these, you can reduce your chance of kidney disease:

  • maintaining blood pressure control
  • maintaining blood sugar control if you have diabetes
  • Consuming food low in salt and fat
  • not using tobacco or smoking
  • limits on alcohol
  • maintaining a healthy weight.
  • exercising on the majority of days of the week

Getting tested is the only method to find out how well your kidneys are functioning.

It’s common for kidney disease to go undetected until your kidneys are severely damaged.

Ask your nephrologist about being tested if you have diabetes, high blood pressure, or a family history of kidney disease. Ask your doctor if you need to get tested for diabetes or high blood pressure if you are unsure if you have either condition. Kidney disease may be avoided by identifying and treating diabetes and excessive blood pressure early.

Some Tips for people with CKD

People with kidney disease should:

  • Regularly get checkups for their blood sugar and blood pressure levels.
  • Remain hydrated. Stay away from coffee and drink lots of water.
  • If you think that you have a bladder or kidney infection, call your doctor straight once.
  • Consult your doctor about effective painkillers.
  • Eat well, exercise, and maintain a healthy weight.
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