DEFINITIONS

Niemann-Pick disease is an inherited condition in which there is a deficiency of a specific enzyme resulting in accumulation sfingomielin (the result of fat metabolism) or there is an abnormal accumulation of cholesterol.

CAUSE

Gene responsible for Niemann-Pick disease is recessive, a person must have 2 genes from both parents.
The disease is most common in Jewish families.

SYMPTOMS

Niemann-Pick disease has five forms or more, depending on the weight or the weight of the enzyme deficiency of cholesterol accumulation.

In the juvenile form, accompanied by severe enzyme deficiency, there is no enzyme.
Nervous system disorders occur heavy because the nerves can not use sfingomielin to produce myelin (nerve sheath).

The children with this disease have a growth of fat in the skin, has dark pigmentation areas and have an enlarged liver, spleen and lymph nodes.
These children may also experience mental retardation (mental retardation).

These children usually have anemia with white blood cell count and low platelets, which makes them susceptible to infection and easy bruising.

Diagnosis

Some forms of Niemann-Pick disease can be diagnosed in the fetus by taking an example vilus chorion or amniosintentesis (examination of amniotic fluid).

Niemann-Pick Tues

After birth, the diagnosis can be established by liver biopsy.

TREATMENT

Niemann-Pick disease can not be cured, and the children who suffer from this disease tend to die from infection or dysfunction of the central nervous system progressive.

DEFINITIONS

Xantomatosis Serebrotendinosa is a rare hereditary disease that occurs, caused by the accumulation kolestanol (a product of cholesterol metabolism) in the network.

SYMPTOMS

This disease eventually causes:
- Uncontrolled movements
- Dementia (senile)
- Cataracts
- Growth of fat (xantoma) on the tendon (tendon).
These symptoms often emerged only when patients aged over 30 years.

TREATMENT

If these symptoms appear early, kenodiol drug can help prevent the progression of the disease, but can not heal the damage that has happened before.

DEFINITIONS

Refsum disease is a rare hereditary disease occurs, which fitanik acid (fat metabolism results) piled on the network.

CAUSE

SYMPTOMS

Fitanik acid accumulation causes:
- Damage to nerves and the retina
- Movement of the spastic (stiff)
- Changes in the bones and skin.

Diagnosis

TREATMENT

Avoid vegetables and fruits that are green, which contain chlorophyll.

Plasmaferesis is a procedure in which acid from the blood fitanik issued.

DEFINITIONS

Acrocyanotic is a bluish color without pain in both hands and feet (more rarely) that are settled.

This disorder usually occurs in women.

CAUSE

The reason is the strain that can not be explained in the small blood vessels in the skin.

SYMPTOMS

Fingers or toes and hands or feet continually cold and bluish, and sweating a lot, swelling can also occur.
Cold temperatures will increase the color is usually bluish and heating will reduce it.
Not found the pain and skin damage.

Diagnosis

Diagnosis based on symptoms that persist, which is limited to the hands and feet the patient, accompanied by a normal pulse.

TREATMENT

Although very rare, to reduce the symptoms can be done cutting the sympathetic nerves.

Wolman disease is an inherited condition that occurs when a type of cholesterol and certain glyceride buried in the network.

SYMPTOMS

This disease causes enlargement of the spleen and liver.

Calcium deposition in the adrenal gland causing the gland becomes hard.

Can happen steatorrhea (fatty stools).

Infants with Wolman disease usually die within 6 months of age.

DEFINITIONS

Aneurysm is a protrusion (dilation, dilatation) on the walls of an artery.
Abdominal aorta aneurysm occurred in a part of the aorta that passes through the stomach.

This disease tends to occur in a family (inherited).
These aneurysms often occur in people with high blood pressure, size greater than 7.5 cm and can rupture. (Normal diameter of the aorta is 1,8-2,5 cm).

CAUSE

The cause is certainly not unknown, but risk factors of abdominal aortic aneurysm is atherosclerosis and hypertension.
Abdominal aortic aneurysm may be caused by:
- Infection
- Congenital abnormalities in the connective tissue that make up the arterial wall
- Trauma.

Abdominal aortic aneurysm can happen to anyone, but most often found in men aged 40-70 years.
In children, aneurysms can occur due to blunt abdominal injury or due marfan syndrome.

Frequent complication is aneurysm rupture that can cause bleeding into the abdominal cavity.Aneurysms that rupture is more frequently found in patients with aneurysms larger than 5 cm.

SYMPTOMS

Patients often feel the throbbing in his stomach.
Aneurysms can cause pain, especially in the form of a sharp pain in the back. Pain may be severe and usually permanent, but changes in body position can reduce this pain.

Early sign of aneurysm rupture is usually a tremendous pain in the lower abdomen and back and tenderness over the aneurysm.
In severe internal bleeding, the patient can fall into a state of shock.
Rupture of abdominal aneurysm is often fatal.

Diagnosis

Many patients who have no symptoms and is diagnosed at a routine physical examination or on X-ray examinations performed for other reasons.

On physical examination, the doctor can feel the throbbing mass at the midline of the abdomen.
Aneurysms that develop quickly and almost burst, often causing pain or tenderness when pressed.
In obese patients, often lebarpun aneurysms that could not be found.

Several laboratory tests can help make the diagnosis aneurysm:
- Photo abdominal X-rays can show an aneurysm that has calcium deposits on his wall
- Ultrasound can show clearly the size of the aneurysm
- CT scan performed after injection of dye intravenously, can accurately show the size and shape of aneurysm, but it is expensive
- MRI scan is an accurate examination, but it is expensive.

TREATMENT

Aneurysms Treatment depends on the size.
If the width is less than 5 cm, rarely broken, but if more than 6 cm wide, often broken.
Because the aneurysm was wider than 5 cm, performed the surgery.

Included on the transplant surgery to repair aneurysms synthetic.
The death rate for this surgery is 2%.

Aneurysms that rupture or threatened rupture, need to be addressed through emergency surgery.
The risk of death during a burst aneurysm surgery is 50%.

If an aneurysm rupture, kidneys have an increased risk for injury due to disruption of blood flow to the kidneys or from shock due to blood loss.
If post-operative kidney failure, patient survival is very slim.
Aneurysms that rupture and untreated, is always fatal.

DEFINITIONS

Zinc is distributed in the body because it is a component of over 100 enzymes, including enzymes that play a role in the synthesis of RNA and DNA.
A vast network of zinc are bone, liver, prostate and testicles.

Zinc levels in the blood depending on the amount of zinc in the diet.
Meat, liver, eggs and seafood is a source of food that contains lots of zinc.

Not milled rice contains substances such as fiber and phosphate, which inhibits the absorption of zinc.

Consuming clay, a habit that made by certain people, inhibit the absorption of zinc and lead zinc deficiency in the body.

Disorder Akrodermatitis enteropatika is derived, which can not be absorbed zinc, also cause a deficiency of zinc.

Symptoms include:
- Loss of appetite
- Hair loss
- Dermatitis
- Nyctalopia
- Disturbance tasting.

Reproductive activity could be disrupted, resulting in delayed sexual development and in men, causing decreased sperm production.
Growth loss can also be hampered.

Immune system and wound healing ability can be disrupted.

In children the early symptoms of zinc deficiency are:
- Growth is too late
- Loss of appetite
- Interference Tasting
- Low content of zinc in hair.

To help establish the diagnosis, examination of zinc levels in the blood.

Treatment consists of providing additional zinc.

EXCESS ZINC

A large number of zinc is usually acquired by consuming acidic foods or beverages that are stored in a place covered by zinc.

Large amounts of zinc can cause a metal taste in the tongue, vomiting and stomach upset.
Zinc in increments of 1 gram or more can be fatal.