Hepatolenticular degeneration (HLD), also known as Wilson’s disease (WD), is an autosomal recessive disorder of copper metabolism and is one of the most effective genetic diseases in terms of symptomatic treatment. It is a disorder of copper metabolism inherited from autosomal recessive genes and is one of the most effective genetic diseases for symptomatic treatment. It is caused by mutations in the ATP7B gene, resulting in excessive accumulation of copper in the body and causing a series of clinical symptoms, especially in the basal ganglia nuclei of the brain, liver, kidney and cornea. The clinical manifestations are complex, with a variety of symptoms, and it is very easy to misdiagnose. The disease develops slowly, and the treatment is based on copper repulsion and prevention of copper absorption. Its efficacy is closely related to the time of starting treatment, dietary control, and whether to adhere to long-term regular treatment. If we can get early diagnosis and early effective copper removal treatment, it is important to improve the quality of life and reduce the death rate of patients, so it is especially important to strengthen the care of HLD. After active treatment and care in our hospital, 95% of patients can be discharged from the hospital. The nursing experience in our hospital is reported as follows. Zhang Dongfeng, Brain Hospital, Zhengzhou People’s Hospital
1. Basic nursing care
Keep the ward clean and comfortable during hospitalization. Regularly disinfect the air in the ward, maintain the appropriate temperature in the room, strengthen personal hygiene, and go to public places with as few people as possible. Regularly monitor patients’ vital signs, measure body temperature, blood pressure, pulse rate and respiration, and closely observe respiratory, neurological and psychiatric symptoms in patients with complications of encephalopathy.
2. Medication instruction
Penicillin skin test should be done before taking PCA, and it is prohibited for those with positive skin test. Because penicillin has anti-vitamin B6 effect, can cause vitamin B6 deficiency neuritis, so should be taken orally at the same time to supplement vitamin B6. taking DMSA, should take appropriate amount of sodium bicarbonate to prevent acid-base imbalance; the above drugs should be taken 2 h before meals to avoid food interference, affecting absorption. Inhibit the absorption of Cu Zn preparations, it is best not to take at the same time with penicillamine, 2 h interval.
3. Observe the reaction after medication
During the treatment of copper expulsion, pay close attention to observe the various reactions of patients. In continuous high-dose copper expulsion, patients are very likely to have.
(1) Convulsive symptoms caused by low calcium.
(2) Fatigue, apathy, nausea, vomiting, abdominal distension, abdominal pain, cardiac arrhythmia, decreased cardiac function and other symptoms caused by low potassium, and in severe cases, symmetrical muscle weakness of the extremities, or even respiratory distress, coma, systolic cardiac arrest and death.
(3) Allergic reactions: Patients can appear 1-2 days after practical copper repellent drugs, and a few appear in 2-4 weeks. The main manifestations of allergic reactions are fever, rash or polymorphic erythema, often accompanied by loss of appetite, lymph node enlargement, etc.
(4) Gastrointestinal reactions: A small number of patients develop gastrointestinal reactions such as loss of appetite, nausea and vomiting at an early stage.
(5) Hematologic damage, such as leukopenia, decreased platelets, granulocyte deficiency, aplastic anemia, etc.
(6) Immune diseases: such as lupus erythematosus, rheumatoid arthritis, nephrotic syndrome, myasthenia gravis, etc.
(7) Skin and mucous membrane bleeding: nasal bleeding, gum bleeding and subcutaneous purpura are often found.
(8) Others such as mild dizziness, weakness, joint pain, vitamin B6 deficiency, zinc deficiency, macrosomia, etc. In severe cases, optic neuritis or induced epilepsy occurs.
In addition, various symptomatic treatments such as drugs to improve muscle tone are desirable for side effects such as dry mouth, blurred vision, constipation, nausea, urinary retention, sweating disorder, bradycardia, urinary retention, blurred vision, etc. Antipsychotics are desirable for extrapyramidal reactions such as tremor, rigidity, salivation, bradykinesia, inability to sit still, acute dystonia, weakness, dizziness, tachycardia, constipation, sweating, etc.
Closely observe the patient’s reaction to the medication, report any abnormalities to the physician, and actively cooperate with the physician to deal with the situation accordingly.
4. Dietary care
Hepatomegaly is one of the few genetic diseases that are effectively treated symptomatically. It is a genetic disorder of copper metabolism resulting in a positive copper balance, which causes a large amount of copper to be deposited in organ tissues, especially in the liver, brain, kidney and cornea, and the key to its treatment is to reduce copper intake, that is, a low copper diet, in addition to copper excretion and protection of the function of damaged organs. The purpose of dietary therapy is to protect liver function, reduce symptoms, prevent disease progression, and maintain and consolidate the acquired therapeutic effect by using food factors to greatly reduce copper intake and promote copper excretion. Diet therapy is a basic, necessary and effective measure for the treatment of this disease and is a long-term, meticulous task, of which dietary care is an important part. Patients must be informed of the importance of diet therapy, and diet therapy should be based on the patient’s consciousness and voluntariness, as well as the necessary dietary guidance.
(1) Low copper diet, avoid foods with high copper content. The United Nations World Health Organization (WHO) recommends a daily intake of copper of 0.05 mg /Kg body weight. The Chinese Nutrition Society has not set a standard for copper supply, but considers the safe and appropriate daily dietary intake for adolescents and adults to be 1.2-2.0 mg. The copper content of a low-copper diet is not clearly defined, and it is generally believed that it should not exceed 260 mg per day, and 0.1 mg/Kg body weight or less for pediatric patients. For patients with hepatomegaly, generally dry food containing <0.3mg/100g of copper can be eaten, 0.3~0.5mg/100g can be eaten sparingly, and >0.13mg/100g can be forbidden.
(2) A high-protein diet should be given while strictly limiting copper intake.
(1) Strictly limiting copper salts in the diet is difficult, but foods high in copper should be avoided as much as possible. Such as liver, blood, pork, clams and shellfish (clams, oysters, snails), fish, squid, squid, nuts (such as peanuts, walnuts), dried legumes (peas, fava beans, soybeans, black beans, pinto beans, lentils, mung beans), sesame, cocoa, chocolate, gelatin, cherries and some vegetables high in copper (mushrooms, capers, spinach, rape, mustard, fennel, taro, lobelia, etc.), should also be used sparingly or not.
②High-calorie diet:2000 Kcal/d, to overcome patients with liver damage such as cirrhosis.
③High protein diet: more than 80 g/d, of which high quality protein should preferably be above 50%.
④High carbohydrate: caloric ratio more than 60%, cereal deficiency supplemented with table sugar, the above are conducive to liver protection.
(3) Use fine rice and noodles as staple food and do not use copper utensils to cook food.
(4) Supplement with foods rich in calcium and vitamins.
Children with hepatomegaly often suffer from osteoporosis and rickets due to impaired calcium and phosphorus metabolism, so in addition to medication, the diet should be rich in calcium and vitamin D foods. However, many foods rich in calcium also contain high copper content. Therefore, milk foods should be supplied, and milk is easily absorbed and utilized by the body. Cod liver oil contains a large amount of vitamin D, which is also a major factor in maintaining the absorption of calcium and phosphorus in the body, so it should be supplied or supplemented within the diet daily.
(5) Supply sufficient vitamin C, vitamin B1 and vitamin B6 food. Adequate vitamin C can prevent liver failure and infection by applying a large amount of vitamin C foods, and a daily intake of 500 mg of vitamin C is recommended. To protect the nervous system, muscle tension insufficiency and tremor can be treated with more foods rich in vitamin B1 and vitamin B6. Vitamin B6 can also avoid vitamin B6 deficiency caused by the use of drugs that promote copper salt excretion (D-penicillamine). (6) In addition, we ask patients to.
(1) each meal should also consume foods rich in potassium salts and increased Zn and Mn content, which can reduce the absorption of copper in the gastrointestinal tract; (2) for patients with portal hypertension and dysphagia in cirrhosis, let them forbid fried, crumbly, spiny or raw lumpy foods such as steamed buns, buns and burritos to prevent patients from inducing upper gastrointestinal bleeding and obstruction of the trachea by accidental swallowing of food leading to asphyxia, and patients should be allowed to take soft or semi-liquid diet as far as possible.
Patients with hepatomegaly should avoid taking foods that excite the nervous system, such as strong tea, coffee, broth, chicken soup, etc., to avoid aggravating brain damage.
④For patients with hepatomegaly caused by cirrhosis and hepatic function in the compensated period with serious disease combined with ascites, generally give low salt and high protein diet, eat more black fish soup, winter melon soup has diuretic effect to reduce swelling.
⑤ For patients with hepatomegaly who have symptoms such as muscle ankylosis or severe tremor, involuntary movement, etc., they should pay attention to proper nutrition because of excessive physical exertion. Use more egg whites, milk and dairy products and other high-quality protein. These foods are not only low in copper, but also have a long-term effect of copper excretion, and also have the role of protecting the liver.
(6) For patients with low calcium, patients should eat more calcium-rich foods such as oily bone broth and egg yolk, and take calcium supplements orally or intravenously if necessary.
(7) For patients with hemolytic anemia in hepatomegaly, it is recommended to take more iron and VitC-rich foods to improve the symptoms.
(8) For patients with psychiatric symptoms who refuse to eat, we patiently persuade them to feed and, if necessary, use nasal feeding or intravenous nutrition to ensure nutritional needs. On the other hand, we also need to pay attention to maintaining water and electrolyte balance.
5. Care of complications
(1) For patients who are bedridden for a long period of time, pressure sores are likely to occur, and we use specific measures including.
(1) Position change: Relieving pressure is the main principle of pressure sore prevention. Position change can prevent patients from being subjected to prolonged and continuous pressure in the same area, and is a prerequisite for the treatment of pressure sores. We use a variety of turning beds, air beds or sand beds to achieve better results. Caregivers or family members turn patients, generally alternating between supine and prone positions, with intervals of less than 2 hours between position changes.
① Set up obvious signs at the head of the bed, and post the schedule of position change, and record the turning time and position in the table. ②Check carefully the skin of the area where pressure sores are likely to occur before and after turning and record the results. ③Turning time should be done strictly according to the schedule and should not be changed at will.
④Turning should be done gently and without dragging.
⑤ Pay attention to finishing the bed surface before and after turning so that it is flat and free of debris. ⑥Replace and wash the fecal contaminated mattress sheet in time to keep the skin clean and dry. ⑦Place a soft pillow on the bone protrusion site to reduce too much concentration of pressure.
(2) Reduce the pressure on the bone protrusion site: use soft pillows, foam, sponge and other items to drive the empty bone protrusion site.
(3) Observe the skin: Check the skin of the whole body at least once a day, especially the areas where pressure sores are likely to occur, which can be done by doctors, nurses and family members in patients in the acute stage. Patients in the chronic stage can examine themselves with a hand mirror. When abnormalities are found in the skin, mitigation measures should be taken immediately to prevent the development of the disease.
4) Support training: Patients who live on wheelchairs for a long time should practice lifting their hips by supporting the bed surface and chair armrests with both hands in order to reduce the pressure on the hips. If the hands are weak, you can first tilt your upper body to one side to allow the opposite hip to leave the chair surface and then tilt to the other side.
(5) Avoid traumatic injury when there is a lack of innervation or malnutrition, even a very light skin injury can become infected and evolve into a trauma similar to a pressure sore, so special attention should be paid to removing foreign objects from the bed and chair. It is also important to prevent trauma during training.
(6) Skin care workers The skin of the pressure area is often contaminated by sweat, secretions, urine, etc., especially in patients who are incontinent, and there are often poorly ventilated plastic pads under the sheets for moisture prevention, which can easily cause skin infiltration and infection. Therefore, we should pay attention to scrubbing the pressure area every morning and evening to keep the skin clean and dry.
(7) Strengthen nutrition Patients with poor nutrition are prone to pressure sores and have difficulty in healing because of the reduced tolerance of the skin to pressure damage. Therefore, attention should be paid to increasing protein and high-calorie diet to prevent patients from developing anemia and hypoproteinemia.
(2) Oral infections are desirable in patients with end-stage or swallowing difficulties, and we use specific measures including.
(1). The patient’s head is turned sideways to the operator, and a therapeutic towel is taken under the neck and a curved tray is placed next to the corner of the mouth.
2）． Observe the oral mucosa for bleeding spots, ulcers, fungal infections and the nature of moss, and with active dentures, remove them for proper storage.
3)． Pour the mouthwash into the medicine bowl, clip the cotton ball with curved hemostatic forceps, and small forceps to help strangle the dry cotton ball. Gently scrub all sides of the teeth and the cheek, tongue, soft consternation from inside to outside. After scrubbing, give mouth rinse and dry the cheeks.
4). Treat oral disorders as appropriate. For those with dry lips, apply lip moisturizer.
6. Psychological care
Hepatomegaly is an autosomal recessive hereditary disease, and patients have a pessimistic attitude towards the healing of their disease.
①We warmly welcome new patients and introduce the admission instructions in detail, so that they can get familiar with the environment as soon as possible and adapt to the role change with a positive attitude. Help patients to establish good interpersonal relationships, including doctor-patient relationship, nurse-patient relationship, and patient-patient relationship, etc.
② For anxious and irritable patients we show sympathy and understanding for patients’ anxiety and fear, and give psychological support such as care, encouragement and comfort. We take the initiative to make friends with them, talk to them, chat from work, family and life, strengthen nurse-patient communication, do a good job with family members and work together to relieve patients’ anxiety and build confidence. When patients have questions about their condition, we will do a good job of scientific explanation to relieve their physical and mental pressure.
③ hepatomegaly is a hereditary disease, patients are prone to pessimism about their own condition, to assist doctors to do a good job in the premise of treatment, on the one hand to strengthen psychological communication with patients, with a rigorous and enthusiastic attitude, patient and meticulous work style to maximize the trust of patients, so that they regard nurses as relatives, what they have to say to the nurse; on the other hand, we actively with the patient’s unit On the other hand, we actively contact with the patients’ units, family members and friends, so that they can visit and take care of the patients from time to time, and give them more care, so that they can have a sense of belonging, which is conducive to the stability and recovery of the patients’ condition.
For patients with psychotic symptoms such as mania, we closely observed them and reported them to the physician as soon as they showed the first signs of symptoms, and applied sedatives in time.
7. Discharge instruction
Patients were instructed to review the relevant examinations regularly after discharge, to take medication regularly, to maintain a good mental state, to develop good living habits, to eat reasonably and to prevent infection.