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Wilson's Disease

What is Wilson's disease?
Wilson's disease is a condition where too much copper builds up in the body. It is a rare inherited disorder that affects about 1 in 30,000 people. It is named after Dr Samuel Wilson who first described the disorder in 1912.
If you inherit the genetic fault in Wilson's disease, your body is not able to get rid of copper. Copper is a trace metal which is in many foods. You need tiny amounts of copper to remain healthy. Normally, the body gets rid of any excess copper. People with Wilson's disease cannot get rid of excess copper and so it builds up in the body, mainly in the liver, the brain, the layer at the front of the eye (called the cornea) and the kidneys.
Too much copper in the liver cells (the hepatocytes) is harmful and leads to liver damage. Damage to brain tissue mainly occurs in an area called the lenticular nucleus. Hence, Wilson's disease is sometimes also called hepatolenticular degeneration.

What causes Wilson's disease?
In Wilson's disease, a particular gene on chromosome 13 does not work. The gene is called ATP7B. This gene normally controls the way the liver cells get rid of excess copper. Normally, the liver cells pass out excess copper into the bile. If this process does not work then the copper builds up in liver cells. When the copper storage capacity of the liver cells is exhausted, the copper spills into the bloodstream and deposits in other parts of the body, mainly the brain.

How is Wilson's disease inherited
Wilson's disease is an autosomal recessive disorder. This means that, in order to develop Wilson's disease, you need to inherit two abnormal ATP7B genes - one from your mother and one from your father.
If you inherit only one abnormal gene, you are called a carrier. Carriers do not have the disorder, as they have one normal gene which is enough to control the function of copper in the body. However, carriers can pass the abnormal gene on to their children. About 1 in 100 people are carriers of the ATP7B gene. When two people who carry the abnormal gene have a child, there is a:
⦁    1 in 4 chance that the child will have Wilson's disease (by inheriting the abnormal ATP7B gene from both parents).
⦁    2 in 4 chance that the child will not have Wilson's disease, but will be a carrier (by inheriting the abnormal ATP7B gene from one parent but the normal gene form the other parent).
⦁    1 in 4 chance that the child will not have Wilson's disease, and will not be a carrier (by inheriting the normal gene from both parents).
What are the symptoms and problems of Wilson's disease?
Although the genetic defect is present at birth, it takes years for copper to build up to the level where it is damaging. Symptoms typically start to develop between the ages of 6 and 20, most commonly in the teenage years. However, you can first develop symptoms in middle age.
Liver problems
Symptoms of liver problems often develop first. The toxic effect on the liver cells can cause inflammation of the liver (hepatitis) which may cause:
⦁    Yellowing of the skin and the whites of the eyes (jaundice).
⦁    Tummy (abdominal) pain.
⦁    Episodes of being sick (vomiting).
If left untreated, damage to liver cells causes scarring of the liver (cirrhosis). Eventually, severe cirrhosis and liver failure develop in untreated cases, causing severe problems.

Brain problems
As copper deposits in the brain it can cause various symptoms:
Physical symptoms
⦁    An odd type of tremor in the arms.
⦁    Slowness of movement.
⦁    Difficulty with speech.
⦁    Writing problems.
⦁    Difficulty swallowing.
⦁    An unsteady walk.
⦁    Headaches.
⦁    Fits (seizures).
Psychological symptoms
⦁    Depression.
⦁    Mood swings
⦁    Inability to concentrate.
⦁    Very argumentative and emotional behaviour in affected people, who may seem to have changed in personality.
Severe problems
If left untreated, the accumulation of copper in the brain can lead to:
⦁    Severe muscular weakness.
⦁    Severe rigidity.
⦁    Dementia.

Other problems
Copper may build up in the layer at the front of the eye (called the cornea). This causes a characteristic feature called Kayser-Fleischer rings - a brownish pigmentation of the cornea.
Other features that may develop include:
⦁    Anaemia.
⦁    Kidney damage.
⦁    Heart problems.
⦁    Inflammation of the pancreas (pancreatitis).
⦁    Menstrual problems.
⦁    Repeated miscarriage in women.
⦁    Premature 'thinning' of the bones (osteoporosis).

How is Wilson's disease diagnosed
If Wilson's disease is suspected, it can be diagnosed by various tests:
A blood test to measure caeruloplasmin. This is a protein that binds copper in the bloodstream. The level is low in nearly all people with Wilson's disease.
⦁    Other blood tests may also be performed. These may be done to measure your copper levels and to test your kidney and liver function.
A urine test to measure the amount of copper in the urine. This is usually tested on all the urine you produce over a 24-hour period. The amount is typically higher than normal.
⦁    An examination of the layer at the front of the eye (called the cornea) by an optician (optometrist) or an eye specialist may show the Kayser-Fleischer rings if they have developed. (They are not present in all cases.)
⦁    A small sample (biopsy) of the liver may be taken to look at under the microscope. This can show the excess copper in the liver and the extent of any scarring of the liver (cirrhosis). See separate leaflet called ⦁    Liver Biopsy for more details.
⦁    Your specialist may also request other tests -

 for example, an ⦁    MRI scan of your brain and your kidneys.

If Wilson's disease is confirmed then your brothers and sisters should be checked to see if they have the condition. Brothers and sisters of a person with Wilson's disease have a 1 in 4 chance of also having the condition.

How is Wilson's disease treated
It is essential to treat Wilson's disease. The earlier treatment is started, the better the chance of preventing long-term permanent damage to the liver or brain.
Penicillamine is a medicine used to remove copper from the body (it is called a chelating agent). The penicillamine causes the excess copper from the body to be passed out in the urine. The dose may be reduced to a maintenance dose after about a year when the initial build-up of copper has been cleared.
Trientine is an alternative to penicillamine. It too is a chelating agent and removes copper from the body.
Zinc is an option in certain circumstances. Zinc works by blocking the gut from absorbing copper from food. Therefore, it does not clear excess copper from the body, but prevents any further build-up of copper. Zinc is much less likely than penicillamine or trientine to cause side-effects. It may be an option for people who are diagnosed at the very early stages of the disease and have no symptoms. Also, a switch to zinc may be an option for people who have been initially treated with penicillamine or trientine once the initial build-up of copper has been cleared from the body. Zinc may also be taken if you are pregnant.
Note: you need treatment for life. First, to clear the excess copper, and then to prevent future accumulation of copper. Failure to take medication can lead to a return to a build-up of copper, which can be serious - even fatal.
For the few people who do not respond to treatment with medication, or are diagnosed in the late stage of the disease with severe scarring of the liver (cirrhosis) or liver failure, a liver transplant may be an option. This can be life-saving. The long-term outlook after a liver transplant is usually very good.

Diet
Foods with a high concentration of copper generally should be avoided, at least in the first year of treatment when the excess copper is being cleared from the body. These include liver, chocolate, nuts, mushrooms and shellfish, especially lobster.

What is the outlook (prognosis)?
⦁    If treatment is begun in the early stages of the disease, it usually works very well. You can expect  a normal length and quality of life.
⦁    However, without any treatment, Wilson's disease is usually fatal - typically, before the age of 40.
⦁    If symptoms have developed before treatment has started, some of the symptoms improve with treatment, but some may remain permanently. For example, some of the brain symptoms are permanent once they develop. Your specialist will be able advise about which symptoms may go and which may be permanent, once treatment begins.

A.DEFINISI

Glomerulonefritis merupakan penyebab terbesar penyakit ginjal tahap akhir, selain hipertensi, gagal ginjal polikistik, dan penyakit ginjal Glomerulonefritis adalah suatu reaksi imunologil pada ginjal terhadap bakteri atau virus tertentu.Yang paling sering terjadi adalah infeksi oleh sterptococus, sering ditemukan pada usia 3 – 7 tahun. obstruksi infeksi. Penyakit ini mengenai bagian glomerulus akibat reaksi antigen dan antibody. Antigen yang membentuk komplek antigen-antibodi ikut mengalir dalam darah adan mengendap dalam ginjal. Akhirnya, terjadi inflamasi yang menyebabkan rusaknya ginjal. Glomerulonefritis yang rusak menyebabkan kebocoran protein atau adanya sel darah merah dalam urin. (anonym, 2008)

B. ETIOLOGI
Glomerulonefritis disebabkan oleh beberapa penyebab, diantaranya adalah:
1.    Streptococcus beta hemoliticus group A
2.    Keracunan (timah hitam, tridion)
3.    Penyakit sipilis
4.    Trombosis vena renalis
5.    Penyakit kolagen, (anonym,2008)
6.    Sindrom Goodpasture
7.    Vaskulitis
8.    Lupus eritematosus sistemik
9.    Mikroangiopati trombotik (sindrom uremia hemolitik, purpura trombositopeni trombotik)

C. MANIFESTASI KLINIS
    Gejala umumnya adalah hematuri berat, oliguria berat, dan nyeri pinggang. Kecurigaan terutama bila ditemukan:
1.    Sindrom nefrotik skut pada orang dewasa.
2.    Hematuria mikroskopik yang berat pada sindrom nefrotik akut
3.    Proteinuria berat pada sindrom nefrotik akut.
4.    Oliguria atau anuria.
5.    Penurunan laju filtrasi glomerulus.
6.    Adanya penyakit sistemik. (Mansjoer dkk, 2001)
Tanda – tanda yang lain yang dapat memunculkan kecurigaan seseorang tersebut menderita glomerulonefritis adalah:
1.    Edema ringan di sekitar mata atau seluruh tubuh
2.    Sakit kepala, merasa lemah.
3.    Nyeri pinggang dan menjalar ke abdomen. (anonim, 2008)

D. PEMERIKSAAN PENUNJANG
    Karena merupakan kedaruratan, yang terpenting adalah biopsi ginjal. Pemeriksaan laboratorium yang dilakukan sesuai dengan pada sindrom nefrotik akut. (Mansjoer dkk, 2001)
    Pada pemeriksaan laboratorium pasien penderita glomerulonefritis didapat beberapa fenomena sebagai berikut:
⦁    Hb menurun
⦁    Serum kreatinin dan ureum meningkat
⦁    Elektrolit serum (natrium meningkat)
⦁    Urinalisis (BJ urin meningkat, albumin positif, eritrosit positif, leukosit positif).

E. KOMPLIKASI
1.    Dapat berlanjut menjadi glomerulonefritis kronis jika terjadi dalam jangka waktu yang lama.  

F. PENATALAKSANAAN

    Dalam kasus glomerulonefritis ada 2 jenis penatalaksanaan yang mungkin bisa membantu pasien yang terkena kasus tersebut. Penatalaksanaannya sebagai berikut:
1. Perturkaran plasma
Pertukaran plasma secara intensif, biasanya menukar 4 liter plasma pasien dengan albumin atau cairan plasma protein setiap hari selama 1-2 minggu, diikuti dengan penurunan bertahap dalam frekuensi, dikombinasi dengan imunosupresi dan terapi antitrombotik (biasanya prednisolon 1 mg/kg/BB/hari, siklofosfamid 1,5-2,5 mg/kg/BB/hari dan dipiridamol 400 mg/hari). Dengan terapi ini, biasanya hanya pasien dengan anuria lengkap yang tidak mengalami perbaikan fungsi ginjal.
2. Terapi steroid pulsasi
Diberikan metilprednisolon secara intravena dengan pulsasi berupa 1 g/hari selama 3 hari, atau 30 mg/kg/BB setiap hari kedua untuk tiga dosis dan diulangi 1 minggu kemudian bila responnya tidak baik. (Mansjoer dkk, 2001)
Penatalaksanaan lain yang bisa diterapkan atau dilakukan adalah:
1.    Pembatasan cairan dan elektrolit
2.    Berikan antihipertensi
3.    Bila anuria berlangsung lama (5-7 hari) dianjurkan untuk dialisa peritoneal dan hemodialisa.
4.    Antibiotika.

G. DIAGNOSA KEPERAWATAN
    Ada beberapa diagnosa keperawatann yang sering muncul pada kasus glomerulonefritis. Berikut diagnosa keperawatannya:
1.    Kelebihan volume cairan b.d disfungsi ginjal
2.    Perubahan nutrisi kurang dari kebutuhan tubuh b.d intake yang kurang.
3.    Intoleransi aktivitas b.d kelemahan fisik
4.    Resiko kerusakan integritas kulit b.d perubahan sirkulasi tubuh

H. INTERVENSI KEPERAWATAN
    Untuk mengatasi permasalahan keperawatan yang muncul pada kasus glomerulonefritis, ada beberapa intervensi yang te
Diagnosa 1
1.    Observasi tanda vital setiap 2 jam sekali
2.    Kaji status cairan, obsevasi intake dan output
3.    Jelaskan pada pasien pentingnya pembatasan cairan
4.    Timbang berat badan pada waktu, alat, dan pakaian yang sama
5.    Observasi hasil lab: BJ urin, albumin, elektrolit, dan darah
Diagnosa 2
1.    Catat pemasukan makan setiap kali habis makan
2.    Catat gejala yang timbul setelah makan, seperti mual – mual.
3.    Kaji pola dan kebiasaan makan klien.
4.    Sajikan makanan yang menarik dan hangat, porsi kecil tapi sering.
5.    Berikan diet tinggi kalori rendah protein, tinggi karbohidrat rendah garam.
Diagnosa 3
1.    Kaji aktivitas yang biasa dilakukan pasien.
2.    Anjurkan klien melakukan aktivitas sesuai kemampuannya.
3.    Bantu aktivitas yang belum bisa dilakukan oleh klien.
4.    Batasi aktivitas klien selama perawatan.
Diagnosa 4
1.    Observasi perkembangan kulit klien setiap hari.
2.    Anjurkan klien untuk miring kiri dan miring kanan setiap 2 jam.
3.    Lakukan masase, olesi minyak atau lotion pada kulit klien.
4.    Pertahankan kulit klien tetap kering.

The Gut

This leaflet gives a brief overview of the gut and how the gut works.

What is the gut?

The gut (gastrointestinal tract) is the long tube that starts at the mouth and ends at the anus. Cross-section diagram of the abdomen showing the full gastrointestinal organs

Where is the gut found?

The mouth is the first part of the gastrointestinal tract. When we eat, food passes down the oesophagus (gullet), into the stomach, and then into the small intestine. The small intestine has three sections - the duodenum, jejunum and ileum. The duodenum is the first part of the small intestine and follows on from the stomach. The duodenum curls around the pancreas creating a c-shaped tube. The jejunum and ileum make up the rest of the small intestine and are found coiled in the centre of the abdomen. The small intestine is where food is digested and absorbed into the bloodstream. Following on from the ileum is the first part of the large intestine, called the caecum. Attached to the caecum is the appendix. The large intestine continues upwards from here and is known as the ascending colon. The next part of the gut is called the transverse colon because it crosses the body. It then becomes the descending colon as it heads downwards. The sigmoid colon is the s-shaped final part of the colon which leads on to the rectum. Faeces is stored in the rectum and pushed out through the anus when you go to the toilet. The anus is a muscular opening that is usually closed unless you are passing stool. The large intestine absorbs water, and contains food that has not been digested, such as fibre.

What does the gut do?

The gut processes food - from the time it is first eaten until it is either absorbed by the body or passed out as faeces. The process of digestion begins in the mouth. Here your teeth and enzymes (chemicals made by the body) begin to break down food. Muscular contractions help to move food into the oesophagus and on to the stomach. Chemicals produced by cells in the stomach begin the major work of digestion.

While some foods and liquids are absorbed through the lining of the stomach, the majority are absorbed in the small intestine. Muscles in the wall of the gut mix your food with the enzymes produced by the body. They also move food along towards the end of the gut. Food that can't be digested, waste substances, bacteria and undigested food all get passed out as faeces.

How does it work?

The mouth contains salivary glands which release saliva. When food enters your mouth the amount of saliva increases. Saliva helps to lubricate food and contains enzymes that start chemically digesting your meal. Teeth break down large chunks into smaller bites. This gives a greater surface area for the body's chemicals to work on. Saliva also contains special chemicals that help to stop bacteria from causing infections.

The amount of saliva released is controlled by your nervous system. A certain amount of saliva is normally continuously released. The sight, smell or thought of food can also stimulate your salivary glands.

To pass food from your mouth to the oesophagus you must be able to swallow. Your tongue helps to push food to the back of the mouth. Then the passages to your lungs close and you stop breathing for a short time. The food passes into your oesophagus. The oesophagus releases mucus to lubricate food. Muscles push your meal downwards towards the stomach.

The stomach is a j-shaped organ found between the oesophagus and duodenum. When empty, it is about the same size as a large sausage. Its main function is to help digest the food you eat. The other main function of the stomach is to store food until the gut is ready to receive it. You can eat a meal faster than your intestines can digest it.

Digestion involves breaking food down into its most basic parts. It can then be absorbed through the wall of the gut into the bloodstream and transported around the body. Just chewing food doesn't release the essential nutrients, so enzymes are needed.

The wall of the stomach has several different layers. The inner layers contain special glands. These glands release enzymes, hormones, acid and other substances. These secretions form gastric juice, the liquid found in the stomach.

Muscle and other tissue form the outer layers. A few minutes after food enters the stomach the muscles within the stomach wall start to contract (tighten). This creates gentle waves in the stomach contents. This helps to mix the food with gastric juice.

Using its muscles, the stomach then pushes small amounts of food (now known as chyme) into the duodenum. The stomach has two sphincters, one at the bottom and one at the top. Sphincters are bands of muscles that form a ring. When they contract the opening, the control closes. This stops chyme going into the duodenum before it is ready.

Digestion of food is controlled by your brain, nervous system and various hormones released in the gut. Even before you begin eating, signals from your brain travel via nerves to your stomach. This causes gastric juice to be released in preparation for food arriving. Once food reaches the stomach, receptors (special cells which detect changes in the body) send their own signals. These signals cause the release of more gastric juice and more muscular contractions.

When food starts to enter the duodenum this sets off different receptors. These receptors send signals that slow down the muscular movements and reduce the amount of gastric juice made by the stomach. This helps to stop the duodenum being overloaded with chyme.

Diagram showing detail around the pancreas

The duodenum, jejunum and ileum make up the small intestine. The first part of the duodenum receives food from the stomach. It also receives bile from the gallbladder via the bile duct, and pancreatic enzymes made by cells in the pancreas via the pancreatic duct. Pancreatic enzymes are needed to break down and digest food. Bile, although not essential, helps in the digestion of fatty foods. Cells and glands in the lining of the the small intestines also produce intestinal juice that helps digestion. Contractions in the wall of the small intestine help to mix food and to move it along.

The small intestine also has special features which help to increase the amount of nutrients absorbed by the body. The inner layer of the small intestine has millions of what are known as villi. These are tiny finger-like structures with small blood vessels inside. They are covered by a thin layer of cells. Because this layer is thin, it allows the nutrients released by digestion to enter the blood. Most of the important nutrients needed by the body are absorbed at different points of the small intestine.

Following on from the ileum is the large intestine. The inside of the large intestine is wider than the small intestine. It does not contain villi, and mainly absorbs water. Bacteria in the large intestine also help with the final stages of digestion. Once chyme has been in the large intestine for 3-10 hours it becomes semi-solid. This is because most of the water has been removed. These remnants are now known as faeces.

Movements of the muscles found in the large intestine help to digest the chyme and move faeces towards the rectum. When faeces are present in the rectum, the walls of the rectum stretch. This stretch activates special receptors. These receptors send signals via nerves to the spinal cord. The spinal cord signals back to the muscles in the rectum, increasing pressure on the first sphincter of the anus. The second, or external sphincter of the anus is under voluntary control. This means you can decide whether you will open your bowels or not. Young children have to learn to control this during toilet training.

Some disorders of the gut

•Acid reflux and oesophagitis

•Anal fissure

•Appendicitis

•Barrett's oesophagus

•Cancer of the bowel

•Cancer of the liver

•Cancer of the oesophagus

•Cancer of the pancreas

•Cancer of the stomach

•Cholecystitis

•Coeliac disease

•Constipation

•Crohn's disease

•Cystic fibrosis

•Diarrhoea

•Diverticula

•Duodenal ulcer

•Dyspepsia

•Gallstones

•Gastroenteritis

•Haemorrhoids (piles)

•Helicobacter pylori and stomach pain

•Hernia

•Hiatus hernia

•Irritable bowel syndrome

• ect..