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p>1. What kind of disease is hepatolenticular degeneration?
Answer: It is an autosomal genetic disease. As its name suggests, this disease mainly damages a part of the liver and brain called the lentiform nucleus. structure, causing various symptoms. It was first discovered by a doctor named Wilson, hence the name Wilson disease. It is a disorder of copper metabolism.
copper obtained by the human body from food Exceeding the human body’s needs, the excess copper is normally metabolized and excreted from the body with the help of a substance called ceruloplasmin synthesized by the liver. This disease is mainly due to genetic abnormalities caused by genetic reasons, which further leads to ceruloplasmin. Protein synthesis disorder, so too much copper cannot be excreted from the body, and copper is toxic and is particularly easy to deposit in the nerve nuclei of the liver and brain (the most important is the lentiform nucleus), causing a series of symptoms such as abnormal liver function, Liver cirrhosis, involuntary dancing, grimace, salivation, various mental symptoms, unsteady walking, epilepsy, etc.
If the patient is not treated early, Well, life threatening. But if diagnosed early and treated carefully, the prognosis is good.
2. Is this disease a rare disease? Why haven’t I heard of it before? A: It is a rare disease and not easily recognized by inexperienced medical staff. 3. Hepatolenticular degeneration is a genetic disease, and neither of the patient’s parents has the disease, why is it still sick? Answer: It is an autosomal recessive genetic disease. Some traits of the human body, such as skin color, single eyelid or double eyelid, blood type, etc., are determined by a pair of genes, half of which come from the father, usually from the mother. The so-called recessive genetic disease means that both the genes from the father and the mother are disease-causing genes to develop the disease, and only half of the patient’s father and mother’s genes are diseased genes, and the other half are normal, so Not sick.
The children of patients with this disease generally inherit only half of the disease-causing genes, and also Will not develop the disease, unless the spouse is also a carrier of the diseased gene, and happens to pass the diseased gene to the next generation, then the children of the patient will also develop the disease. Because the patient’s parents are carriers of the disease-causing gene, the patient’s aunts and uncles may also be carriers, and their children may also be carriers, so if there is an inbreeding between cousins or cousins, their children will be There is a high probability of disease. This is why marriage laws prohibit consanguineous marriages.
4. Which gene causes hepatolenticular degeneration? How does it become a disease-causing gene? Can genetic testing detect abnormalities?
Answer: The current research on hepatolenticular degeneration is mainly caused by mutations in the gene ATP7B. It is located on human chromosome 13. This genetic information is made up of hundreds or thousands of smaller units called bases, and one of these bases can suddenly be caused by radiation, poison, drugs, or other accidental reasons. Changes are called point mutations, and some base changes can cause the gene to become a disease-causing gene.
In addition to ATP7B, the researchers also found that COMMD1, XIAP, Atox1 may also be related to hepatolenticular degeneration. Genetic testing is a common method to detect ATP7B gene The mutation site is very helpful for the diagnosis of the disease, but the current detection technology is not 100% corresponding. The detection of the mutation site can indicate that it is a carrier or patient. It is caused by a rare site mutation, it is also a carrier, or it may be other diseases, so sometimes it is necessary to do a full genetic test.
5. What are the characteristic symptoms of hepatolenticular degeneration? At what age do patients typically develop symptoms?
Answer: The most characteristic symptom of this disease is the corneal K-F ring, that is, the junction of the patient’s cornea and sclera can be seen blue-green or brown under careful observation. A ring is due to the deposition of copper elements. But not all patients develop K-F rings.
The common clinical symptoms of patients with dystonia are hand and foot chorea Grimace, drooling, dysphagia, dysphonia, bradykinesia, limb tremor, muscle rigidity, etc. Severe cases can lead to instability in standing and walking, uncoordinated movements, and seizures. Psychiatric symptoms include decreased attention and memory, mental retardation, unresponsiveness, emotional instability, often accompanied by forced laughter, smirk, impulsive behavior or personality changes. Physical examination can reveal liver and kidney damage, and severe cases may have various symptoms of liver cirrhosis. The age of onset is usually adolescent.
6. Does it damage the liver and lentiform nucleus? Will it be life-threatening?
Answer: The disease not only damages the liver and cranial nerve nucleus, but also damages the kidneys, cerebral cortex, cerebellum, bones and joints, and the blood system. of metabolic disorders. It will eventually be irreversible and life-threatening if serious treatment is not started early on.
liver7. Lenticular degeneration disease, which tests can help diagnose?
Answer: The following tests are helpful for the diagnosis of hepatolenticular degeneration:
(1) Copper metabolism is related to The following biochemical tests: ① Serum ceruloplasmin decreased: normal 200-500mg/L, patients <200mg/L, <80mg/L is the strong evidence of diagnosis. ②Increase of urinary copper: normal 24h urinary copper excretion <100μg, patients ≥100μg;
(2) Routine blood and urine: when the patient has liver cirrhosis and hypersplenism The blood routine can show decrease in platelets, white blood cells and/or red blood cells; hematuria, microalbuminuria, etc. can be seen under the urine routine microscope.(3) Liver and kidney function: patients may have different degrees of liver function changes , such as decreased serum total protein, increased globulin, liver cirrhosis in late stage. Liver puncture biopsy showed a large amount of copper excess, which may be more than 5 times that of normal people. When renal tubular damage occurs, aminoaciduria or blood urea may be present. Increased nitrogen and creatinine, proteinuria, etc.
(4) Brain imaging examination: head CT can show symmetrical hypodense shadows in bilateral lentiform nuclei. MRI is more specific than CT, showing the lentiform nucleus (especially the putamen), caudate nucleus, midbrain and pons, thalamus , cerebellum and frontal cortex T1-weighted image hypointensity and T2-weighted image hyperintensity, or putamen and caudate nucleus show high and low mixed signals on T2-weighted image, and there may also be different degrees of sulcus widening, ventricle enlargement, etc.< /span>(5) Gene diagnosis: The disease-causing gene mutation sites and mutation patterns are complex and cannot completely replace routine examination methods. For cases that cannot be diagnosed by conventional means, or screening for pre-symptomatic patients and gene carriers Genetic testing may be considered.
8. Once diagnosed with hepatolenticular degeneration, how should it be treated?
< span>Answer: The treatment of patients mainly includes drug therapy, diet therapy, rehabilitation therapy and psychological adjustment therapy.
drug therapy to expel copper(1) D-Penicillamine (PCA): It is the drug of choice for this disease. It is a powerful metal chelator. It can form a non-toxic complex with copper in the liver and promote its deposition in tissues. The site is cleared, reducing the toxicity of free copper. Penicillamine complexes with copper ions in tissues to form a copper-penicillamine complex, which is excreted in urine. This drug is easily absorbed orally. Drug side effects include nausea, allergic reactions, myasthenia gravis, arthropathy, and a few can cause leukopenia and aplastic anemia, optic neuritis, and lupus syndrome. Exfoliative dermatitis, nephrotic syndrome and other serious side effects. In addition, the penicillamine skin test should be done when the patient is taking the drug for the first time, and only those who are negative can use it. This disease requires long-term or even life-long medication, and attention should be paid to supplementing sufficient vitamin B.
(2)DMmg/kg PS: Dimercaptopropanesulfonic acid (DMmg/kg) Dissolve in 500ml of 5% glucose solution by slow intravenous drip, once a day, 6 days as a course of treatment, rest for 1-2 days between 2 courses of treatment, and inject continuously for 6-10 courses of treatment. The main adverse reactions were loss of appetite and mild nausea and vomiting. It can be used for patients with hepatolenticular degeneration with mild, moderate and severe liver damage and neuropsychiatric symptoms.
(3) Triethylene-hydroxytetramethylamine (TETA): The pharmacological action is similar to D-penicillamine, and it is used when penicillamine cannot be tolerated. the main drug. Side effects are small, but the drug source is difficult and expensive.
(4) Zinc preparations: zinc sulfate, zinc acetate, zinc gluconate, zinc licorice, etc. are commonly used. Take the medicine 1 hour after meals to avoid food affecting its absorption, and try to eat less crude fiber and foods containing a lot of plant acids. Zinc has less side effects, mainly including gastrointestinal irritation, numbness of lips and limbs, decreased immune function, and serum cholesterol disorder. No teratogenic effects on the fetus. The disadvantage of zinc is that the onset of action is slow (4 to 6 months), and it is not the first choice for severe cases.
(5) Tetrathiomolybdate: It can promote the rapid excretion of metallic copper in the body, improve the symptoms of WD, and be comparable to D-penicillamine, with much less side effects. The drug has not yet been commercialized abroad, and so far there is no experience in using it in China.
(6) Chinese medicine treatment: rhubarb Diarrhea and Panax notoginseng are effective for this disease due to their diuretic and copper excretion effects. A small number of patients have diarrhea and abdominal pain early after taking the medicine. The effect of using traditional Chinese medicine alone is often unsatisfactory, and the effect of integrated traditional Chinese and Western medicine will be better. It is recommended for presymptomatic patients, early or mild patients, pediatric patients, and long-term maintenance therapy.
9. What precautions should be taken in the treatment of patients with hepatolenticular degeneration?
Answer: Pay attention to this disease:
1) Early diagnosis and early treatment will lead to a good prognosis; Follow the doctor’s prescription medication follow-up, ignore the treatment, the prognosis is very poor.
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2) Dietary aspects
①Avoid eating foods high in copper: millet, wheat noodles, brown rice, beans Classes, nuts, potatoes, spinach, eggplant, pumpkin, mushrooms, bacteria and algae, dried vegetables, dried fruits, mollusks, shellfish, snails, shrimp and crabs, animal liver and blood, chocolate, cocoa. Certain Chinese medicines (keel, oyster, centipede, whole scorpion), etc.
②Suitable low-copper foods: refined white rice, refined noodles, fresh vegetables, apples, peaches, pears, fish, pork, beef, chicken, duck, goose, milk, etc.
4) the patient’s prognosis is closely related to family support. The support system plays a vital role in the mental and physical recovery of the patient.
10. How bad is the prognosis for this disease?
Answer: If this disease is detected early, diagnosed early and treated early, it will generally less affect the quality of life and survival. Late treatment is basically ineffective, and a small number of patients with rapid disease progression or severe liver and nervous system damage without treatment have poor prognosis, resulting in disability or even death. The main causes of death in patients with hepatolenticular degeneration are liver failure, suicide, and tumors. Despite the great progress in early diagnosis and treatment over the past 20 years, the mortality rate of patients with hepatolenticular degeneration is still relatively high.
11. The relatives of the patient have a high probability of carrying the disease-causing gene. How to prevent it or what inspection measures should be taken?
Answer: The patient’s family members can be tested by measuring serum ceruloplasmin, serum copper, urine copper and the copper content of cultured skin fibroblasts , to help discover whether it is a potential patient or a carrier of a disease-causing gene.
If it is a potential patient, it should be treated early before symptoms will be fine. If you are a carrier of a disease-causing gene, marriage with other carriers should be contraindicated to avoid a high risk of future children. The pregnancy should be terminated if the prenatal examination finds that the child is a potential patient.
12. Drugs for the treatment of hepatolenticular degeneration are hard to buy, where can I buy them?
A: It is true that because the patients are rare, their treatment drugs are hard to buy. It is suggested that patients can share information by forming a patient association and other means. Once a reliable drug source is obtained, it is recommended to establish a stable connection to ensure drug acquisition and can be shared with patients, which is beneficial to both supply and demand.
13. How to do it?
Answer: Do a penicillin skin test if you are not allergic.
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Hebei Red Cross Foundation Hospital
Hebei Red Cross Foundation Shijiazhuang Hospital of Integrated Traditional Chinese and Western Medicine,Public Unit , City Key Liver Disease Specialized Hospital, the designated medical institution for municipal medical insurance and direct settlement of inter-provincial and inter-provincial hospitalization, is committed to providing A caring unit that provides health consultation and diagnosis and treatment services for patients with hepatobiliary diseases.
Our hospital advocates mutual learning and complementation between Chinese and Western medicine, and proposes the concept of “diagnosing diseases” , Syndrome Differentiation, Quantity Differentiation” three differentiating principles of diagnosis and treatment, and on the basis of the integration of traditional Chinese and Western medicine, the characteristic “Traditional Chinese Medicine Three Differentiation and Treatment of Liver Law< /span>”, has made remarkable achievements in the clinical treatment of various liver diseases for a long time.
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