treatment
ErythropoiesisPorphyrin
(1) Oral β-carotene: It is the only drug that can effectively control this disease. According to the daily dose of 3mg/kg, it can be taken continuously for 4 to 6 weeks. After the yellowing of the palmar, the amount of reduction can be maintained for 2 to 3 months, which can significantly prolong the tolerance of sunlight to normal life. And work. The mechanism may be to block the phototoxic damage caused by porphyrin through the β-carotene protective layer formed in the skin and the quenching effect on oxygen free radicals. Since there is no effect on the porphyrin metabolism disorder of this disease, it is necessary to take this medicine regularly in the annual season and before. In addition to yellowing of the skin (self-resolving after reduction and withdrawal), there are generally no other adverse reactions.
(2) Vitamin B6 high-dose therapy: 100mg orally once in the morning, and once every hour, even 10 times, can improve the symptoms. Its mechanism may be related to the promotion of niacin and nicotinamide production and alleviation of photoallergic phenomena.
(3) Oral nicotinamide and vitamin E.
(4) cholestyramine (Cholestyramine) 4g, 3 times a day, before meals. It binds to the protoporphyrin in the intestine and blocks the intestinal hepatic circulation of the protoporphyrin, thereby promoting the elimination of excessive protoporphyrin and is effective in preventing the progression of hepatobiliary lesions of the disease.
2. Delayed skin porphyria
(1) Chloroquine andHydroxychloroquine: Increased to increase the release and excretion of porphyrin from the liver, thereby improving symptoms. Generally, long-term low-dose oral administration is used. The chloroquine usage is 0.125g each time, twice a week, for at least 10 months. The clinical symptoms are expected to be alleviated in about 4 months, followed by a decrease in the amount of urinary porphyrin in the urine. In recent years, a small dose of hydroxychloroquine treatment, that is, hydroxychloroquine oral 0.1g, 2 times a day, even after 2 weeks, reduced to only 2 days per week, and even served for 4 to 8 months. This disease can be controlled.
(2) Venous bleeding: The mechanism is to deplete hemoglobin, so that the excess porphyrin intermediate produced in this disease forms heme, and the second is to deplete the iron stored in the body and improve the iron deposition of the liver. Generally, blood is given once every 1-2 weeks, 400ml each time, 8 to 12 times in a row, until the hemoglobin drops to 110-120g/L, which can make the disease relieve for a long period of time. It can be used in addition to severe cardiopulmonary disease and anemia, and is a safe and effective treatment.
(3) Other:Deferoxamine, subcutaneous injection once a day, the dose of 1.5g, 5 times a week. Or oral deferoxamine 30mg/kg per day for 1 week every 3 months for 6 to 12 months, can improve liver iron deposition. Patients with severe complications who are not eligible for the above two methods can use recombinant erythropoietin, which is effective for long-term hemodialysis-induced PCT patients, and intravenous administration of 150 U/kg per dialysis;Sodium bicarbonateIt can be beneficial for the porphyrin to be discharged with the urine. OthersNicotinamide,Vitamin B6, vitamin E, etc. can also be combined with oral.
3. Congenital erythropoietic porphyria is mainly symptomatic. Severe long-term hemolysis is a clear indication of splenectomy. After splenectomy, hemolytic anemia can be improved, erythropoiesis can be inhibited, excessive production of porphyrin can be reduced, and light sensitivity of the skin can be reduced, which can last a long time.
(two) prognosis
Erythropoietic protoporphyrinosis (EPP), an increase in protoporphyrin in the blood can lead to deposition and excessive accumulation in hepatocytes and gallbladder, resulting in gallstones and varying degrees of liver damage and sclerosis. 2 cases of this disease recurrent 3 to 4 years caused by biliary colic attacks. Some patients have mild anemia. Delayed cutaneous porphyria (PCT), with reports of systemic lupus erythematosus, non-insulin-dependent diabetes mellitus, chronic lymphocytic leukemia, and AIDS. Congenital erythropoietic porphyria (CEP), severe seizures such as extremity contracture, missing ear and nose fingers, cheek scars, eyelid valgus, eye adhesions, scarring alopecia, etc. after multiple episodes.
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