Friedreich’s ataxia is an inherited (genetic) disorder that causes certain nerve cells to deteriorate over time. In many cases, this disorder also affects the heart, certain bones and cells in the pancreas that produce insulin. The illness typically begins with difficulty walking. People with Friedreich’s ataxia develop clumsy, shaky movements of the legs (called gait ataxia) during childhood or early adolescence. In rare cases, symptoms appear in infants and in middle-aged adults. As the disease gets worse, people may develop bony deformities of the spine and feet, loss of sensation in the limbs, speech problems, abnormal eye movements, heart disease and diabetes.

Scientists believe that many symptoms of Friedreich’s ataxia are related to abnormally low levels of frataxin, a protein that helps to protect cells from “free radicals,” which are toxic (poisonous) byproducts of the cells’ energy production. In a person with Friedreich’s ataxia, a segment of the genetic code on chromosome number 9 can have as many as 1,000 repetitions, instead of the normal range of 7 to 22. These repetitions produce an error that leads to a decreased production of frataxin. As free radicals accumulate within cells, and more and more cells are destroyed or altered, the long-term effects of Friedreich’s ataxia lead to a thinner spinal cord, enlarged heart muscle, disturbances in speech and eye movement, and loss of the pancreas’s ability to regulate blood sugar. Ultimately, almost everyone with Friedreich’s ataxia is confined to a wheelchair, and a large percentage of people develop serious heart problems, including heart failure.

Friedreich’s ataxia is a recessive disorder, which means that 2 copies of the abnormal ninth chromosome must be inherited (1 from each parent). People who inherit only one abnormal copy (approximately 1 of every 90 Americans of European ancestry) don’t have the disease, but are “carriers” who can pass the abnormal chromosome to their children.

Symptoms

Because Friedreich’s ataxia affects many organs, it can produce a variety of symptoms:

Neuromuscular symptoms involving the limbs include clumsy, shaking movements (ataxia) of the arms and legs, difficulty walking, paralysis of the leg muscles, difficulty moving the arms, and loss of sensation (especially vibration and sense of position) in the limbs.

Neurological problems include difficulty speaking (usually seen as a slow, hesitating speech pattern), rapid, involuntary, jerky movements of the eyeballs (nystagmus), reduced vision and hearing loss.

Bony deformities of the spine and feet (usually triggered by neuromuscular problems) include curvature of the spine (scoliosis), high-arched foot, clubfoot, deformities of the toes and foot inversion (foot turns inward).

Cardiac symptoms may include shortness of breath (especially with exertion), chest pain, abnormally rapid or irregular heartbeat, and symptoms of heart failure (leg swelling, difficulty breathing while lying flat, waking from sleep to urinate).

Symptoms of diabetes (in 10% of cases) include extreme thirst, frequent urination, weight loss, fatigue and blurry vision.

In most cases, people with a very high number of repetitions tend to develop the illness earlier than others. They also have more severe symptoms. People with a relatively low number of repetitions may not develop symptoms until age 30 or 40 and may not experience severe heart problems.

Diagnosis

A doctor will review your symptoms, medical history and any family history of neuromuscular disorders. You will have a thorough physical exam, with special attention paid to your heart, and a neurological examination, with special attention paid to your legs, arms and eyes. Then, depending on the findings, your doctor may order one or more of the following diagnostic tests:

Nerve conduction studies – Determines whether nerve cell damage has slowed the transmission of nerve impulses.

Electromyogram – Looks for muscle damage.

Electrocardiogram – Checks for abnormalities in the heartbeat.

Echocardiogram – Assesses heart function, measures the thickness of the heart muscle and determines the size of the heart chambers.

Magnetic resonance imaging – Scans the brain and spinal cord to look for signs of deterioration, especially loss of thickness in the spinal cord.

Blood tests and urinalysis – Checks for high blood sugar, and tries to rule out other illnesses that may mimic Friedreich’s ataxia.

Holter monitor – A continuous 24-hour electrocardiogram recording of the heart’s rhythm to look for potentially dangerous irregular heartbeats.

Genetic testing can confirm the chromosomal abnormality that causes Friedreich’s ataxia.

Expected Duration

Friedreich’s ataxia is an inherited (genetic) problem that is present at birth and persists throughout life.

Prevention

There is no way to prevent Friedreich’s ataxia. Through genetic testing and genetic counseling, people can get information about their risk of passing Friedreich’s ataxia on to their children.

Treatment

There is no way to correct or remove the extra repetitions that cause Friedreich’s ataxia. Treatment focuses on relieving symptoms, keeping the condition from getting worse and prolonging life. Treatment may include:

• Physical therapy and occupational therapy
• Bracing or surgery to correct bony deformities – If scoliosis is severe, surgery is usually done at a relatively early age (if possible), because heart disease that typically develops later in the illness makes the operation more dangerous later on.
• Medication for heart disease – Medications such as beta blockers and ACE inhibitors are often used to treat the symptoms of the heart disease related to this condition. Also there is some evidence that these medications might slow down the progressive worsening of heart failure.
• Antioxidant substances, such as vitamin E, coenzyme Q₁₀, and idebenone may potentially delay disease progression.
• Treatment to lower blood sugar – This includes a modified diet, together with oral anti-diabetic drugs or insulin.

Tetralogy of Fallot  is a rare condition caused by a combination of four heart defects that are present at birth (congenital).

These defects, which affect the structure of the heart, cause oxygen-poor blood to flow out of the heart and to the rest of the body. Infants and children with tetralogy of Fallot usually have blue-tinged skin because their blood doesn’t carry enough oxygen.

 

Tetralogy of Fallot is often diagnosed during infancy or soon after. However, tetralogy of Fallot might not be detected until later in life in some adults, depending on the severity of the defects and symptoms.

With early diagnosis followed by appropriate surgical treatment, most children and adults who have tetralogy of Fallot live relatively normal lives, though they’ll need regular medical care throughout life and might have restrictions on exercise.

Symptoms

Tetralogy of Fallot symptoms vary, depending on the extent of obstruction of blood flow out of the right ventricle and into the lungs. Signs and symptoms may include:

• A bluish coloration of the skin caused by blood low in oxygen (cyanosis)
• Shortness of breath and rapid breathing, especially during feeding or exercise
• Loss of consciousness (fainting)
• Clubbing of fingers and toes — an abnormal, rounded shape of the nail bed
• Poor weight gain
• Tiring easily during play or exercise
• Irritability
• Prolonged crying
• A heart murmur

Tet spells

Sometimes, babies who have tetralogy of Fallot will suddenly develop deep blue skin, nails and lips after crying or feeding, or when agitated.

These episodes are called tet spells and are caused by a rapid drop in the amount of oxygen in the blood. Tet spells are most common in young infants, around 2 to 4 months old. Toddlers or older children might instinctively squat when they’re short of breath. Squatting increases blood flow to the lungs.

When to see a doctor

Seek medical help if you notice that your baby has the following symptoms:

• Difficulty breathing
• Bluish discoloration of the skin
• Passing out or seizures
• Weakness
• Unusual irritability

If your baby becomes blue (cyanotic), place your baby on his or her side and pull your baby’s knees up to his or her chest. This helps increase blood flow to the lungs.

Causes

Tetralogy of Fallot occurs during fetal growth, when the baby’s heart is developing. While factors such as poor maternal nutrition, viral illness or genetic disorders might increase the risk of this condition, in most cases the cause of tetralogy of Fallot is unknown.

The four abnormalities that make up the tetralogy of Fallot include:

• Pulmonary valve stenosis. Pulmonary valve stenosis is a narrowing of the pulmonary valve — the valve that separates the lower right chamber of the heart (right ventricle) from the main blood vessel leading to the lungs (pulmonary artery).Narrowing (constriction) of the pulmonary valve reduces blood flow to the lungs. The narrowing might also affect the muscle beneath the pulmonary valve. In some severe cases, the pulmonary valve doesn’t form properly (pulmonary atresia) and causes reduced blood flow to the lungs.
• Ventricular septal defect. A ventricular septal defect is a hole (defect) in the wall (septum) that separates the two lower chambers of the heart — the left and right ventricles. The hole allows deoxygenated blood in the right ventricle — blood that has circulated through the body and is returning to the lungs to replenish its oxygen supply — to flow into the left ventricle and mix with oxygenated blood fresh from the lungs.Blood from the left ventricle also flows back to the right ventricle in an inefficient manner. This ability for blood to flow through the ventricular septal defect reduces the supply of oxygenated blood to the body and eventually can weaken the heart.
• Overriding aorta. Normally the aorta — the main artery leading out to the body — branches off the left ventricle. In tetralogy of Fallot, the aorta is shifted slightly to the right and lies directly above the ventricular septal defect.In this position the aorta receives blood from both the right and left ventricles, mixing the oxygen-poor blood from the right ventricle with the oxygen-rich blood from the left ventricle.
• Right ventricular hypertrophy. When the heart’s pumping action is overworked, it causes the muscular wall of the right ventricle to thicken. Over time this might cause the heart to stiffen, become weak and eventually fail.

Some children or adults who have tetralogy of Fallot may have other heart defects, such as a hole between the heart’s upper chambers (atrial septal defect), a right aortic arch or abnormalities of the coronary arteries.

Risk factors

While the exact cause of tetralogy of Fallot is unknown, various factors might increase the risk of a baby being born with this condition. These risk factors include:

• A viral illness during pregnancy, such as rubella (German measles)
• Alcoholism during pregnancy
• Poor nutrition during pregnancy
• A mother older than age 40
• A parent who has tetralogy of Fallot
• The presence of Down syndrome or DiGeorge syndrome

Complications

All babies who have tetralogy of Fallot need corrective surgery. Without treatment, your baby might not grow and develop properly.

Your baby may also be at an increased risk of serious complications, such as infective endocarditis — an infection of the inner lining of the heart or heart valve caused by a bacterial infection.

Untreated cases of tetralogy of Fallot usually develop severe complications over time, which might result in death or disability by early adulthood.

Treatment

Surgery is the only effective treatment for tetralogy of Fallot. Surgical options include intracardiac repair or a temporary procedure that uses a shunt. However, most babies and older children have intracardiac repair.

Your or your child’s doctors will determine the most appropriate surgery and the timing of the surgery based on your or your child’s condition.

In some cases your child may need medicine to keep the opening between two large blood vessels in the heart open. This can help to maintain blood flow from the heart to the lungs before intracardiac repair.

Intracardiac repair

This open-heart surgery is usually done during the first year after birth and involves several repairs. Adults with tetralogy of Fallot rarely may undergo this procedure if they didn’t have surgical repair as children.

The surgeon places a patch over the ventricular septal defect to close the hole between the lower chambers of the heart (ventricles).

He or she also repairs or replaces the narrowed pulmonary valve and widens the pulmonary arteries to increase blood flow to the lungs.

Because the right ventricle won’t need to work as hard to pump blood after this procedure, the right ventricle wall will go back to its normal thickness. After intracardiac repair, the oxygen level in the blood increases and symptoms will lessen.

Temporary surgery

Occasionally babies need to undergo a temporary (palliative) surgery before having intracardiac repair in order to improve blood flow to the lungs. This procedure may be done if your baby was born prematurely or has pulmonary arteries that are undeveloped (hypoplastic).

In this procedure, the surgeon creates a bypass (shunt) between a large artery that branches off from the aorta and the pulmonary artery.

When your baby is ready for intracardiac repair, the surgeon removes the shunt during the procedure for intracardiac repair.

After surgery

While most babies and adults do well after intracardiac repair, long-term complications are common. Complications may include:

• Chronic pulmonary regurgitation, in which blood leaks through the pulmonary valve back into the pumping chamber (right ventricle)
• Other heart valve problems, such as blood leaking back through the tricuspid valve
• Holes in the wall between the ventricles (ventricular septal defects) that may continue to leak after repair or may need re-repair
• Enlarged right ventricle or left ventricle that isn’t working properly
• Irregular heartbeats (arrhythmias)
• Coronary artery disease
• Aortic root dilation, in which the ascending aorta enlarges
• Sudden cardiac death

Complications can continue throughout childhood, adolescence and adulthood for people with tetralogy of Fallot. Most adults with repaired tetralogy of Fallot may require another procedure or intervention during their lifetimes. It’s very important to have regular follow-up with a cardiologist trained in caring for people with congenital heart disease (pediatric cardiologist or adult congenital cardiologist) who can evaluate you and determine the appropriate timing of another intervention or procedure.

Sometimes blood flow to the lungs may still be restricted after intracardiac repair. Infants, children or adults with these complications might require additional surgeries. More commonly, there is leakage through the repaired pulmonary valve. Most adults with repaired tetralogy of Fallot may have pulmonary valve leakage (regurgitation) and may need to have the pulmonary valve replaced during their lifetimes. Your cardiologist will determine the most appropriate timing for this procedure.

Arrhythmias are common after repair and may be treated with medications, a procedure to treat the arrhythmias (ablation) or a special pacemaker device that treats life-threatening heart rhythms (implantable cardioverter-defibrillator).

In addition, as with any surgery, there’s a risk of infection, unexpected bleeding or blood clots.

Ongoing care

After surgery you or your child will need lifelong care with a cardiologist trained in treating congenital heart disease (adult congenital cardiologist or pediatric cardiologist), including routine follow-up appointments to make sure that the initial operation or procedure was successful and to monitor for any new complications.

Your or your child’s doctor may conduct a physical examination and order tests in regular follow-up appointments to evaluate and monitor your or your child’s condition.

The doctor might also recommend that you or your child limit strenuous physical activity, particularly if there’s any pulmonary valve leakage or obstruction, or arrhythmias.

Sometimes, antibiotics are recommended during dental procedures to prevent infections that might cause endocarditis — an inflammation of the lining of the heart. Antibiotics are especially important for those who have had prior endocarditis, have artificial valves or have had repair with prosthetic material. Ask the doctor what’s right for you or your child.

Peripheral Vascular disease (PVD)?

Are atherosclerosis and peripheral vascular disease related?

Atherosclerosis is a gradual process whereby hard cholesterol substances (plaques) are deposited in the walls of the arteries. This buildup of cholesterol plaques causes hardening of the artery walls and narrowing of the inner channel (lumen) of the artery. When this happens in the peripheral circulation, peripheral vascular disease is the result. The atherosclerosis process begins early in life (as early as teens in some people). When atherosclerosis is mild and the arteries are not substantially narrowed, atherosclerosis causes no symptoms. Therefore, many adults typically are unaware that their arteries are gradually accumulating cholesterol plaques. However, when atherosclerosis becomes advanced with aging, it can cause critical narrowing of the arteries resulting in tissue ischemia (lack of blood and oxygen).

Arteries that are narrowed by advanced atherosclerosis can cause diseases in different organs. For example, advanced atherosclerosis of the coronary arteries (arteries that supply heart muscles) can lead to angina and heart attacks. Advanced atherosclerosis of the carotid and cerebral arteries (arteries that supply blood to the brain) can lead to strokes and transient ischemic attacks (TIAs). Advanced atherosclerosis in the lower extremities can lead to painwhile walking or exercising (claudication), deficient wound healing, and/or leg ulcers.

Picture of Carotid Artery Disease and Plaque Buildup

Picture of a Heart Attack (Myocardial Infarction) – Buildup of Cholesterol Plaque and Blood Clot

Atherosclerosis is often generalized, meaning it affects arteries throughout the body. Therefore, patients with heart attacks are also more likely to develop strokes and peripheral vascular disease, and vice versa.

What is malaria?

Malaria is an infection of the blood that is carried from person to person by mosquitoes. The disease has been recognized for thousands of years and once was found almost everywhere except in the most northern areas of the world.  However, it remains a serious problem in much of the tropical and subtropical world.

Millions of people continue to be infected every year and close to one million of them die.

Malaria symptoms

With malaria you develop a high fever, which comes and goes every other day or few days. How often a fever returns varies with each species of malaria.

• Many infections do not show this classic pattern of returning fevers at all. In many people the infection will seem more like flu with high fever and body aches.
• People also will complain of headache, nausea, shaking chills (rigors),sweating and weakness.
• As the infection progresses the fevers get less severe and you seem to recover. However, the infection can remain in many people for several years, particularly for those with a long history of exposure to malaria.
• These people can develop some immunity and may be infected for many years while only rarely having symptoms.

The different types of malaria each bring on their own complications.

• P falciparum: You can develop severe haemolytic anaemia (the red blood cells actually break down), kidney failure, coma and death. Treatment is a medical emergency. Drug resistance has become widespread. Current information on disease patterns, prevention for travellers and drug resistance can always be found through a travel health clinic or your GP surgery.
• P ovale: This species also can cause anaemia, but this infection is rarely life threatening.
• P vivax: You can develop anaemia and rupture of the spleen, which can become life threatening. People with P vivax or P ovale may relapse several months after the initial illness because of the persistence of dormant forms (called hypnozoites) remaining in the liver. These should be eradicated with medical treatment.
• P malariae: This infection is rarely life threatening, but a long-standing disease can lead to kidney failure. If untreated, this infection can last throughout your life.

Malaria causes

Malaria is caused by protozoan of the genus Plasmodium.

• Infection begins with a bite from an infected mosquito.
• The parasite travels from the mosquito to your liver, where the parasite begins to reproduce.
• The parasite leaves the liver and travels to the bloodstream, where it infects red blood cells. The parasite reproduces in the red blood cells, which destroys the cells and releases more parasites into the bloodstream.
• If another mosquito bites an infected person, that mosquito can then carry the infection to someone else.

There are four species of Plasmodium that infect humans:

• P vivax – Most common in India and Central and South America but found worldwide. It has an incubation period of 8-13 days. Infections can sometimes lead to life-threatening rupture of the spleen. In people treated only with chloroquine, this type of malaria can hide in the liver and return later.
• P ovale – Rarely found outside Africa. This form of malaria has an incubation period of 8-17 days and can hide in the liver of partially treated people and return later.
• P malariae – Found worldwide but less common than the other forms. This form of malaria has an incubation of 2-4 weeks. If untreated, the infection can last many years.
• P falciparum – Common worldwide, this is the most life-threatening form of malaria. This parasite has an incubation period of 5-12 days. Resistance to many of the medicines used to treat or prevent malaria is increasing.
• Although most people acquire malaria through mosquito bites, in some foreign countries the disease can have other sources.
  • Every year a handful of people are infected through blood transfusions or organ transplants.
  • IV drug users can develop malaria from sharing needles.
  • Each year a few babies are born to mothers who did not know they were infected. The babies then develop malaria.

When to seek medical care

People who recently have traveled to a country in which malaria exists and who develop a high fever or other symptoms that may be malaria should seek immediate medical attention at the GP’s surgery or at a hospital.

Examinations and tests

A healthcare professional will perform blood tests to determine if you have malaria and, if so, which type.

Malaria treatment

• Your doctor will prescribe a medicine or a combination of medicines straight away, depending on the type of strain and where you were infected.
• In much of the world, malaria is treated at home with oral medication and fluids. Severe infections require IV drug therapy.
• The most important aspect of home care is to make sure you drink lots of fluids and not to become dehydrated.

Next steps follow-up

• People infected with P vivax or P ovale will need to take chloroquine for several weeks after being treated in order to kill the parasites hiding in the liver.
• Report any recurrent fever or symptoms to your doctor because treatment failures are fairly common, and additional treatment will be indicated.
• Do not donate blood for several years after having been exposed to malaria.

Prevention

• For people travelling to areas where malaria exists, prevention is perhaps the most important aspect of managing the disease. Seek advice well before you travel, because some medications need to be started before you travel. DEET, or diethyltoluamide, is one of the most commonly used repellents that the NHS says is effective in sprays, roll-ons, sticks and creams. However, London School of Hygiene and Tropical Medicine researchers have found mosquitoes are able to ignore the smell of one of the most popular insect repellent ingredients a few hours after first being exposed to it, highlighting the importance of taking additional precautions such as the use of mosquito nets.
• Several medications are used to prevent infections during foreign travel. The pattern of resistance to these medications is constantly changing.
• In some parts of the world, P falciparum is resistant to all these medications.

What Causes Diabetes?

Your pancreas makes a hormone called insulin. It’s what lets your cells turn glucose from the food you eat into energy. People with type 2 diabetes make insulin, but their cells don’t use it as well as they should. Doctors call this insulin resistance.

At first, the pancreas makes more insulin to try to get glucose into the cells. But eventually it can’t keep up, and the sugar builds up in your blood instead.

Usually a combination of things cause type 2 diabetes, including:

Genes. Scientists have found different bits of DNA that affect how your body makes insulin.

Extra weight. Being overweight or obese can cause insulin resistance, especially if you carry your extra pounds around the middle. Now type 2 diabetes affects kids and teens as well as adults, mainly because of childhood obesity.

Metabolic syndrome. People with insulin resistance often have a group of conditions including high blood glucose, extra fat around the waist, high blood pressure, and high cholesterol and triglycerides.

Too much glucose from your liver. When your blood sugar is low, your liver makes and sends out glucose. After you eat, your blood sugar goes up, and usually the liver will slow down and store its glucose for later. But some people’s livers don’t. They keep cranking out sugar.

Bad communication between cells. Sometimes cells send the wrong signals or don’t pick up messages correctly. When these problems affect how your cells make and use insulin or glucose, a chain reaction can lead to diabetes.

Broken beta cells. If the cells that make the insulin send out the wrong amount of insulin at the wrong time, your blood sugar gets thrown off. High blood glucose can damage these cells, too.

Risk Factors and Prevention

While certain things make getting diabetes more likely, they won’t give you the disease. But the more that apply to you, the higher your chances of getting it are.

Some things you can’t control.

• Age: 45 or older
• Family: A parent, sister, or brother with diabetes

Some things are related to your health and medical history. Your doctor may be able to help.

• Prediabetes
• Heart and blood vessel disease
• High blood pressure, even if it’s treated and under control
• Low HDL (“good”) cholesterol
• High triglycerides
• Being overweight or obese
• Having a baby that weighed more than 9 pounds
• Having gestational diabetes while you were pregnant
• Polycystic ovary syndrome (PCOS)
• Acanthosis nigricans, a skin condition with dark rashes around your neck or armpits
• Depression

Other risk factors have to do with your daily habits and lifestyle. These are the ones you can really do something about.

• Getting little or no exercise
• Smoking
• Stress
• Sleeping too little or too much

Because you can’t change what happened in the past, focus on what you can do now and going forward. Take medications and follow your doctor’s suggestions to be healthy. Simple changes at home can make a big difference, too.

Nephropathic cystinosis is a rare disease that usually appears in infants and children at a young age.

It is a life-long condition, but available treatments, such as cysteamine therapy and kidney transplantation, have allowed people with the disease to live longer.

Cystinosis is a disease caused by an abnormal buildup of a certain amino acid called cystine. It is a rare, but serious disease with a lifelong impact, and can affect many parts of the body.

Cystinosis is an inherited disease, meaning that it is passed down through families. A faulty gene for the protein cystinosin leads to problems with the way cystine is stored in the body. Cystinosis is a recessive genetic disorder and patients must receive an abnormal copy of the cystinosin gene from each parent in order to develop the disease. In people with cystinosis, a buildup of cystine can lead to the formation of crystals. Cystinosis can impact many parts of the body, including the eyes, muscles, brain, heart, white blood cells, thyroid, and pancreas. Cystinosis can also cause serious problems with the kidneys.

There are three types of cystinosis, depending on when symptoms first appear (known as onset): Infantile (early-onset) cystinosis; later childhood or adolescent (late-onset) cystinosis; or adult cystinosis. About 95% of patients with cystinosis have the infantile/early-onset form, making it the most common variant of this disease, and most patients develop kidney problems.

Signs and Symptoms of Cytsinosis

Generally, early-onset cystinosis is the most serious form. Symptoms, complications, and timing of cystinosis can vary, depending on the type of disease.

Infantile (early-onset) Cystinosis

Infants with cystinosis might have no noticeable symptoms at first. However, by 6 – 12 months of age, problems start to appear, including below-average growth, feeding intolerance (picky eating and/or fussiness), frequent urination, and periods of dehydration (constant thirst). One of the first organs affected by cystinosis is the thyroid gland and patients may need to be given thyroid hormone. Walking can also be delayed.

Infantile (early-onset) cystinosis is also called “nephropathic cystinosis,” which is a term used because people with cystinosis can have serious problems with their kidneys. Infants with nephropathic cystinosis can develop a condition called “Fanconi syndrome,” meaning their kidneys cannot absorb nutrients and minerals, such as sodium and potassium. As a result, these essential nutrients are lost in the urine. When infants become children, they are at high risk of developing worsening kidney disease, and eventually kidney failure, meaning the kidneys can no longer work. At that stage, dialysis or a kidney transplant is needed to survive. Without appropriate treatment, children with cystinosis can develop kidney failure by around 10 – 12 years of age.

Cystinosis can also cause other problems, including difficulty swallowing, muscle wasting, and weaker bones. People with cystinosis are also at higher risk for diabetes (high blood sugar).

Cystinosis can also impact the brain and nervous system. As a result, children and teenagers can also have problems with attention, memory, movement, and coordination.

Late-Childhood or Adolescent (late-onset) Cystinosis

Signs and symptoms appear at a later age. If left untreated, kidney failure can develop by the late teenage years or early adulthood. People with late-onset cystinosis can accumulate cysteine in their eyes and have problems with their vision and photophobia, meaning they are sensitive to light.

Adult cystinosis

People with the adult – onset form of this disease mainly have problems with their eyes and/or light sensitivity (photophobia), which is why it can also be called ocular cystinosis. People with adult-onset cystinosis usually do not have problems with the kidneys.

Cystinosis Diagnosis

Cystinosis is diagnosed using different methods, including a physical exam to look for signs of the disease. The eyes will be examined to see if cystine crystals are present (signs of eye problems appear after two years of age). Personal and family medical histories will also be checked. A genetic test can also be used to help confirm a diagnosis.

Measuring the amount of cystine in white blood cells is one of the major tests for cystinosis. There are two tests that can be used to measure how well the kidneys are working. Blood and urine tests and radiology tests are also used to check how other organs are working.

Treatment of Cystinosis

Infants and young children with cystinosis might need to receive fluid and electrolytes, such as sodium and potassium. Vitamin D and phosphate salts might also be given for problems with weaker bones. Diabetes is usually managed with a low-sugar diet, insulin, or other medicines that help control sugar in the blood.

Infants and younger children with cystinosis might eventually need a kidney transplant if their kidneys are no longer working. People with a kidney transplant will need to take certain medicines, and do other important things to maintain their health.

There are also certain medications that can help lower the amount of cystine in the body, called “cystine-depleting” medicines. They can improve symptoms and help delay problems with the kidneys and other parts of the body. All people with cystinosis will need to take this medicine throughout their lives. There are new formulations of the medicine that can be given twice a day and that have less of a bad taste. Measuring the amount of cystine in white blood cells is used to find out how well these medicines are working.

With kidney transplantation, cystine therapy, and other medications, people with cystinosis today live longer into adulthood, provided they are treated early and appropriately. However, this disease has a lifelong impact, so it is important for people with cystinosis to keep up with their medical appointments and treatments. They also need to keep taking medications and stay with the treatment plan, as recommended by their healthcare provider.