What is Alport Syndrome?

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What is Alport Syndrome?

Alport syndrome is a disease that damages the tiny blood vessels in your kidneys. It can lead to kidney disease and kidney failure. It can also cause hearing loss and problems within the eyes. Alport syndrome causes damage to your kidneys by attacking the glomeruli.

What causes Alport syndrome?

Causes. Mutations in the COL4A3, COL4A4, and COL4A5 genes cause Alport syndrome. These genes each provide instructions for making one component of a protein called type IV collagen. This protein plays an important role in the kidneys , specifically in structures called glomeruli.

What is the life expectancy of someone with Alport syndrome?

Prognosis. Women affected by Alport syndrome generally have a normal lifespan. Typically, the only symptom experienced by female patients is hematuria or the presence of blood in the urine. In extreme instances, elevated blood pressure, swelling, and hearing loss may arise as complications during pregnancy.

Can Alport syndrome be cured?

There is no cure for Alport syndrome, but there are treatments that can help protect your kidneys. Blood pressure medicines called angiotensin converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs) can help keep your kidneys working longer.

Who is most likely to get Alport syndrome?

In general, this means that Alport syndrome is more common and more severe in men than in women, because men have only one X chromosome and it carries the mutation.

At what age does Alport syndrome start?

Hearing loss typically develops during late childhood or early adolescence, and most affected individuals become deaf by age 40. Alport syndrome is also characterized by specific eye changes.

Medical Terms Other Names Learn More: HPO ID
Corneal erosion Damage to outer layer of the cornea of the eye 0200020

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How do you treat Alport syndrome?

Currently, there is no specific treatment for Alport syndrome. The goal is to treat the symptoms and help slow the progression of kidney disease.

How is Alport syndrome treated?
  1. ACE inhibitor or ARB medicines (medications to control high blood pressure)
  2. Diuretics (water pills)
  3. Limit sodium (salt) in your diet.

Can you live a normal life with Alport syndrome?

Women usually have a normal lifespan with no signs of the disease except for blood in the urine. In rare cases, women have high blood pressure, swelling, and nerve deafness as a complication of pregnancy. In men, deafness, vision problems, and end-stage kidney disease are likely by age 50.

How does Alport syndrome affect eyes?

Alport Syndrome is linked with certain lens abnormalities (also known as ‘anterior lenticonus’) which can lead to worsening eyesight and possibly cataracts (that may need removing). Some people may experience ‘corneal erosion’ which could give symptoms of dryness and itchiness.

Is Alport syndrome life threatening?

The absolute risk for death in patients with Alport syndrome is lower than in matched controls. However, the relative distribution of causes of death from cardiovascular disease, infection, and suicide did not differ between patients with Alport syndrome and matched controls.

Is Alport syndrome autoimmune?

Alport Syndrome is an autoimmune disorder affecting Type 4 Collagen that includes kidney disease, hearing loss, and eye abnormalities. The genetic disease classically also manifests with hematuria and proteinuria as the disease progresses to ESRD.

Who treats Alport syndrome?

It is very important for people with Alport syndrome to be examined regularly by a nephrologist so that effects of kidney disease, such as hypertension (high blood pressure), can be identified early and treated. Regular evaluations of hearing and vision are also important.

Is Fanconi syndrome fatal?

Symptoms and Signs of Fanconi Syndrome

develops, leading to progressive renal failure that may be fatal before adolescence.

Does a kidney transplant cure Alport syndrome?

A kidney transplant is not a cure for Alport syndrome, and other symptoms of the disease, such as problems with hearing and eyesight, will not improve following a transplant.

Why does Alport syndrome cause hearing loss?

Progressive hearing loss (sensorineural deafness) occurs frequently in people with Alport syndrome. Sensorineural deafness results from impaired transmission of sound input from the inner ears (cochleae) to the brain via the auditory nerves. The hearing loss is bilateral, meaning it affects both ears.

Is Alport syndrome nephritic or nephrotic?

Alport syndrome is a nephritic syndrome caused by a mutation in the COL4A3, COL4A4, and COL4A5 genes that encode the alpha-5 chain of type IV collagen and results in altered type IV collagen strands.

Are you born with Alport syndrome?

Alport’s syndrome is an inherited kidney disease. This means it runs in families and is caused by a genetic mutation. Men are more severely affected than women. It can lead to deafness as well as kidney failure.

Does Alport syndrome cause weight gain?

Many Alport syndrome patients eventually progress to kidney failure and require dialysis or a kidney transplant. In such cases, maintaining a healthy diet becomes even more important. Patients undergoing peritoneal dialysis may gain unwanted weight because infusion fluid contains a carbohydrate called dextrose.

Can you be a carrier of Alport syndrome?

Whether the maternal female cousins of a male with X-linked Alport syndrome (XLAS) are at risk to be carriers of the condition depends on whether the mother of the affected individual is a carrier. In a family with more than one affected male, the mother of an affected individual is an obligate carrier .

What are the first signs of kidney disease?

Signs of Kidney Disease
  • You’re more tired, have less energy or are having trouble concentrating. …
  • You’re having trouble sleeping. …
  • You have dry and itchy skin. …
  • You feel the need to urinate more often. …
  • You see blood in your urine. …
  • Your urine is foamy. …
  • You’re experiencing persistent puffiness around your eyes.

Is Alport syndrome more common in one ethnicity?

Worldwide, Alport’s syndrome is not predominant in a specific race, ethnicity, or within a geographic distribution. In the USA, however, Western states have a significantly higher rate of Alport’s syndrome and is up to two-fold more common than other regions within the USA.

Can kidney disease cause ringing in the ears?

This study is the first to report that CKD is associated with an increased risk of tinnitus. Among CKD cohort, patients with dialysis are at a higher risk of tinnitus than those without dialysis.

Is Bartter syndrome hereditary?

Bartter syndrome is usually inherited in an autosomal recessive manner, which means that both copies of the disease-causing gene (one inherited from each parent) have a mutation in an affected individual.

What is good pasture syndrome?

Goodpasture syndrome is a rare disorder in which your body mistakenly makes antibodies that attack the lungs and kidneys. It most often occurs in people ages 20 to 30 or older than age 60. It is more common in men. It can be fatal if not quickly diagnosed and treated.

Is Alport syndrome a connective tissue disorder?

Alport syndrome is an inherited form of kidney inflammation (nephritis). It is caused by a defect (mutation) in a gene for a protein in the connective tissue, called collagen. The disorder is rare.

Can Alport cause blindness?

Temporal retinal thinning is very common in men and women with X-linked Alport syndrome, and with recessive disease (Figure 4, GJ) (4,55).

What is Dot and Fleck retinopathy?

Below are the most common eye conditions associated with Alport syndrome. Dot-and-fleck retinopathy. Sometimes referred to as fleck retina, this condition involves abnormal yellowish and/or whitish flecks or dots of pigment of the retina and does not typically result in any vision abnormalities.

What is dystrophy of the eye?

Corneal dystrophies are a group of rare genetic eye disorders. With corneal dystrophies, abnormal material builds up in the cornea (the clear, front window of the eye). Most corneal dystrophies affect both eyes. They progress slowly and run in families.

What is Fabry?

Collapse Section. Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body’s cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body.

What causes hematuria?

The causes of hematuria include vigorous exercise and sexual activity, among others. More serious causes of hematuria include kidney or bladder cancer; inflammation of the kidney, urethra, bladder, or prostate; and polycystic kidney disease, among other causes.

Can collagen cause ear problems?

Type II collagen is an essential component of ear tissue. Autoimmune response to this type II collagen produces sensorineural hearing loss, vestibular dysfunction, endolymphatic hydrops, otospongiosis”like lesions, Eustachian tube inflammation and Eustachian tube chondritis.

What does FSGS stand for?

When scar tissue develops in a glomerulus, kidney function gets worse (shown right). Focal segmental glomerulosclerosis (FSGS) is a disease in which scar tissue develops on the glomeruli, the small parts of the kidneys that filter waste from the blood. FSGS can be caused by a variety of conditions.

What causes protein and blood in urine?

The condition is often a sign of kidney disease. Your kidneys are filters that don’t usually let a lot of protein pass through. When kidney disease damages them, proteins such as albumin may leak from your blood into your pee. You can also have proteinuria when your body makes too much protein.

Is Alport syndrome hereditary nephritis?

(Hereditary Nephritis)

Alport syndrome is a genetically heterogeneous disorder characterized by nephritic syndrome (ie, hematuria, proteinuria, hypertension, eventual renal insufficiency) often with sensorineural deafness and, less commonly, ophthalmologic symptoms. Cause is a gene mutation affecting type IV collagen.

Which drugs cause Fanconi syndrome?

Common drugs that cause acquired Fanconi syndrome include aminoglycoside antibiotics, tetracycline antibiotics, chemotherapy agents (cisplatin, ifosfamide, carboplatin), antiviral drugs (tenofovir, adefovir), and anticonvulsant agents (valproic acid).

How long can you live with Fanconi syndrome?

Because the extent of Fanconi anemia varies, the average lifespan for people with the disorder is between 20 and 30 years old. But some patients live into their 30s, 40s and 50s. About 80 percent of people who have Fanconi anemia live to age 18 or older.

How do you treat Fanconi syndrome?

The treatment of a child with Fanconi syndrome mainly consists of the replacement of substances lost in the urine. Prominent among these substances are fluids and electrolytes. Dehydration due to polyuria must be prevented by allowing free access to water; treat dehydration with either oral or parenteral solutions.

What is the most common hereditary kidney abnormality?

Autosomal Dominant Polycystic Kidney Disease (ADPKD): The most common inherited kidney illness, ADPKD causes cysts to form on the kidneys. It occurs in about one in 800 people, and is passed down from parent to child through generations.

What is the ICD 10 code for Alport syndrome?

Q87. 81 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

Does Alport syndrome affect the heart?

Severe cases of Alport syndrome are characterized by a high risk of fatal arrhythmias, hyperkalaemic cardiac arrest, heart failure and intraoperative bleeding. Over-administration of intravenous fluids during surgery may lead to pulmonary oedema, while under- administration may cause hemodynamic instability.

Can see cant pee cant hear a bee?

Clinical features

Patients with Alport syndrome can’t pee, can’t see, can’t hear a bee.

Can kidney problems cause hearing loss?

Of those with CKD, over 54% reported some level of hearing loss compared to only 28% of the rest of the group. Nearly 30% of the CKD participants showed severe hearing loss compared with only 10% of the non-CKD participants. Hearing loss is commonly linked to syndromal kidney disease.

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