More urinary porphyrins in the urine
Introduction
Introduction More urinary porphyrins in the urine are caused by porphyria. Porphyria is a disorder of porphyrin metabolism disorder characterized by increased excretion of porphyrin and porphyrin precursors in urine and feces. Porphyria is a congenital disease that is mainly caused by a lack of various enzymes involved in heme synthesis and has a family history.
Cause
Cause
1. Acute intermittent acute intermittent hematoporphyria is more common, is an autosomal dominant genetic disease, caused by the lack of PBG deaminase (urinary porphyrinogen synthase). This defect causes a decrease in intrahepatic PBG to uroporphyrinogen III, and the resulting heme synthesis disorder causes an increase in the action of ALA synthase, resulting in an increase in the synthesis of ALA and PBG and an increase in excretion from the urine.
2. Delayed skin type delayed skin type blood porphyria is the most common hematoporphyrin disease caused by a deficiency of intrahepatic uroporphyrinogen decarboxylase. Is autosomal dominant inheritance. The cases were sporadic, with more males than females, and most patients had no family history. Although some people have biochemical defects in which the enzymatic activity of uroporphyrinogen decarboxylase is reduced, the excretion of urinary porphyrin does not necessarily increase, and clinical symptoms are not necessarily obvious. Synergistic effects of genetic defects and alcoholism, excessive intrahepatic iron overload, liver damage, and female hormones further reduce the activity of urinary porphyrin decarboxylase or stimulate the formation of ALA, resulting in a significant increase in the formation of urinary porphyrin. , which leads to the onset of delayed cutaneous porphyria.
3. Mixed or variant mixed porphyria is a disease caused by reduction of protoporphyrinogen oxidase and heme synthase, which is inherited by autosomal dominant and can be diseased by both sexes.
4. Hereditary fecal porphyrin-type hereditary fecal porphyria is a rare porphyria disease. An autosomal dominant genetic disease caused by a deficiency of coproporphyrinogen oxidase. Some patients have photoreceptive skin lesions, and their clinical manifestations are similar to those of acute intermittent porphyria. Although the feces in this disease also have a large amount of fecal porphyrin excretion, the content of protoporphyrin is generally low. In acute attacks, there may also be a large amount of urinary porphyrin, coproporphyrin, ALA and PBG in the urine. The recovery period can be changed to normal.
Examine
an examination
Related inspection
Urinary incontinence induction test parathyroid hormone parathyroid hormone (PTH) urine routine
1. Acute intermittent type is more common in clinical practice. The First Affiliated Hospital of Zhongshan Medical College has not completely statistics in the past 10 years. In 17 cases of hepatic porphyria, this type accounts for 15 cases. The age of onset was 23 to 58 years old, and 8 cases were 20 to 30 years old. There were 7 males and 8 females. The literature reported that there were very few cases before and after puberty. Abdominal pain and/or neuropsychiatric symptoms are characteristic of this disease. Since porphyrins in the body do not increase, there is no photoreceptive skin damage.
Abdominal pain occurs suddenly, varying in severity, usually moderate to severe colic or only heavy pressure. Pain is paroxysmal or persistently aggravated, often occurring in the abdomen, sometimes with limited pain, but no fixed position. The abdomen is soft and there is no fixed tenderness point. Often accompanied by nausea, vomiting and constipation. Sometimes the intestine ring can be touched in the abdomen, and the peristalsis is normal or weakened. X-ray abdominal plain film see the dilated bowel; gastrointestinal examination of the gastrointestinal tract can be seen in the small intestine fistula, the dilated intestinal ring can be seen at the proximal end of the small intestine fistula. There may be fever and the number of white blood cells is increased. It has been reported that laparotomy was performed because of misdiagnosis as acute abdomen. Sometimes abdominal pain involves the back on one side and radiates to the bladder and external genitalia, similar to renal colic. The duration of abdominal pain episodes varies, the frequency is not necessarily the same, and the remission period can be long or short. Some patients only do not have a lifetime after 1 or 2 episodes, but they also have one or two episodes per year. It is generally believed that the cause of abdominal pain is due to autonomic neuropathy, which makes the innervation of the small intestine muscle imbalance, or the toxic effect of the porphyrin precursor, causing intestinal fistula.
Neuropsychiatric symptoms are various and often occur after abdominal pain or with abdominal pain, and may occur before abdominal pain or alone. Peripheral nerve damage manifests as limb ascending paralysis, paresthesia, sputum reflex disappears, sometimes anomalous manifestations of sputum sputum positive and achilles tendon reflex disappear, 12 pairs of cranial nerves can be affected, facial nerve sputum is more common, independent Nervous involvement can be sweating, tachycardia, fluctuations in blood pressure, and even upright hypotension. Sinus tachycardia occurs every time it occurs, disappears when it is relieved, and can be used as an indication of disease activity. Brain stem involvement can cause dysphagia, vocal cord paralysis and respiratory center paralysis, hoarseness or even loss of voice is often a precursor to respiratory central paralysis. Impaired hypothalamic can cause diuretic hormone can not be normal secretion syndrome; and thus cause convulsions, paralysis and even coma. Psychiatric symptoms are mainly schizophrenia, snoring and neurasthenia. After the onset of neuropsychiatric symptoms, the general prognosis is poor. In the advanced stage, cirrhosis, liver damage, and even jaundice, ascites, and hepatic encephalopathy often occur.
The urine is red when it occurs, such as wine. Sometimes the urine is normal when it is just discharged, but it turns red after exposure, acidification or heating, which is helpful for the diagnosis of this disease. Urinary excretion - aminolevulinic acid and bilirubin increased (normal humans discharge from the urine a ketovalerate 07 ~ 32mg per day), urinary bilirubin test positive, is an important laboratory basis for the diagnosis of this disease.
The disease is asymptomatic during the remission period. May be induced by mental stimulation, infection, trauma, alcohol, hunger, and the use of drugs such as barbital, chlordiazepoxide, methyl propylamine (methampine), sulfa drugs, phenytoin, griseofulvin, estrogen, etc. During the attack, the condition may be aggravated due to the above factors. The seizure of some female patients may be related to menstruation and pregnancy. Other patients have a latent and asymptomatic course, and only urinary excretion-aminolevulinic acid and biliary tract are increased, which is called latent type. However, under the above-mentioned various predisposing factors, it can sometimes cause acute attacks.
2. The incidence of delayed skin type is more common in men after middle age, and the skin may have eczema-like, urticaria-like, summer pruritic rash and polymorphic erythema, which appear more often after exposure. When there is sufficient sunlight, the skin on the exposed parts of the body often has erythema with blisters due to minor trauma or pressure, and then the blister oozes, smashes, scars and forms scars. Chronic skin damage can be characterized by hairy, pigmented, miliary rash and similar scleroderma and dermatitis. There are varying degrees of liver damage caused by porphyrin deposition in the liver. Some patients have alcoholic cirrhosis, and some have liver adenomas. Drinking alcohol, using estrogen or iron, and contact with BHC are often the cause of the disease. At the time of onset, urine excreted urinary porphyrin I increased, and amino-amino valeric acid and scorpion scorpion were normal. At the time of remission, urinary porphyrin I decreased, while excretion of porphyrin increased.
3. The age of onset or variability is usually between 10 and 30 years old, and the clinical manifestations are characterized by the above two types. This type is a dominant hereditary hepatic porphyria in middle-aged whites in South Africa, dating back to a white family immigrating from the Netherlands. In addition to abdominal symptoms and neurological symptoms, there are skin-sensitive lesions in adulthood. The skin is sensitive to light and occasionally herpes. Skin lesions are intermittent and sometimes the only clinical symptom of this disease. Some patients have abdominal pain and weakness due to acute attacks. Mild mechanical skin trauma, sometimes induced by skin lesions. Women's skin lesions during pregnancy are more pronounced. In the intermittent period, barbiturates, chlorinated quinine, alcohol and anesthetics can induce acute attacks and should be considered as contraindications. Severe cases of abdominal symptoms, neurological symptoms and liver damage symptoms are similar to acute intermittent type. The disorder of porphyrin metabolism is characterized by urinary porphyrin and porphyrin precursors-aminolevulinic acid and scorpionogen negative in the intermittent or latent period, while a large amount of coproporphyrin and protoporphyrin are excreted in the feces. In the acute attack period, fecal porphyrin and protoporphyrin are excreted in large amounts in the feces, and urinary-aminolevulinic acid and bilirubin are also significantly increased, which is a diagnostic point.
4. Hereditary fecal porphyrin type can be seen at any age, equal in men and women, with a clear family history. The condition is faint and asymptomatic, and only fecal porphyrin is excreted. However, acute intermittent clinical manifestations can be induced by drugs such as barbital, methyl propylamine, and phenytoin. Skin lesions are rare, and individual patients may experience photoreceptive skin damage. Its biochemical diagnosis is characterized by a large amount of fecal porphyrin III excretion in the feces, but no protoporphyrin. The urinary coproporphyrin type III may not increase.
However, in the acute episode, the content of fecal porphyrin III in the urine and its precursors, bilirubin and -aminolevulinic acid increased, and of course, there was more fecal porphyrin III in the feces.
1. Acute intermittent diagnosis The most important basis for the disease is the presence of a large amount of ALA and PBG in the urine.
The disease is relatively rare and easily overlooked. Suffering from unexplained abdominal pain must consider the possibility of acute intermittent porphyria. Unexplained neurological disorders, especially peripheral nerve symptoms, local muscle weakness, loose sputum, etc., neuropsychiatric or psychotic factors are aggravated by taking barbiturate, or with menstrual cramps, or taking female hormones or birth control pills The authors must suspect the possibility of porphyria.
2. The most important finding of delayed skin type is that there are more urinary porphyrins and coproporphyrins in the urine, and the urine is red.
3. Mixed or variant type mainly manifests as dermal abrasion, superficial erosion and blisters after slight skin damage.
4. Some patients with hereditary fecal porphyrin type have photoreceptive skin lesions, and their clinical manifestations are similar to those of acute intermittent porphyria.
Diagnosis
Differential diagnosis
1. When the disease is abdominal pain, it should be differentiated from acute abdomen.
2. When there are neuropsychiatric symptoms, it should be differentiated from pellagra, scleroderma and dermatomyositis.
3. When the disease is urinary bilirubin positive, it should be associated with lead, gold, arsenic, alcohol, benzene, carbon tetrachloride poisoning, as well as aplastic anemia, substantial liver disease, connective tissue disease, Hodgkin's disease, leukemia Identification of symptomatic porphyrin urine caused by et al.
Differential diagnosis
1. Acute intermittent type is more common in clinical practice. The First Affiliated Hospital of Zhongshan Medical College has not completely statistics in the past 10 years. In 17 cases of hepatic porphyria, this type accounts for 15 cases. The age of onset was 23 to 58 years old, and 8 cases were 20 to 30 years old. There were 7 males and 8 females. The literature reported that there were very few cases before and after puberty. Abdominal pain and/or neuropsychiatric symptoms are characteristic of this disease. Since porphyrins in the body do not increase, there is no photoreceptive skin damage.
Abdominal pain occurs suddenly, varying in severity, usually moderate to severe colic or only heavy pressure. Pain is paroxysmal or persistently aggravated, often occurring in the abdomen, sometimes with limited pain, but no fixed position. The abdomen is soft and there is no fixed tenderness point. Often accompanied by nausea, vomiting and constipation. Sometimes the intestine ring can be touched in the abdomen, and the peristalsis is normal or weakened. X-ray abdominal plain film see the dilated bowel; gastrointestinal examination of the gastrointestinal tract can be seen in the small intestine fistula, the dilated intestinal ring can be seen at the proximal end of the small intestine fistula. There may be fever and the number of white blood cells is increased. It has been reported that laparotomy was performed because of misdiagnosis as acute abdomen. Sometimes abdominal pain involves the back on one side and radiates to the bladder and external genitalia, similar to renal colic. The duration of abdominal pain episodes varies, the frequency is not necessarily the same, and the remission period can be long or short. Some patients only do not have a lifetime after 1 or 2 episodes, but they also have one or two episodes per year. It is generally believed that the cause of abdominal pain is due to autonomic neuropathy, which makes the innervation of the small intestine muscle imbalance, or the toxic effect of the porphyrin precursor, causing intestinal fistula.
Neuropsychiatric symptoms are various and often occur after abdominal pain or with abdominal pain, and may occur before abdominal pain or alone. Peripheral nerve damage manifests as limb ascending paralysis, paresthesia, sputum reflex disappears, sometimes anomalous manifestations of sputum sputum positive and achilles tendon reflex disappear, 12 pairs of cranial nerves can be affected, facial nerve sputum is more common, independent Nervous involvement can be sweating, tachycardia, fluctuations in blood pressure, and even upright hypotension. Sinus tachycardia occurs every time it occurs, disappears when it is relieved, and can be used as an indication of disease activity. Brain stem involvement can cause dysphagia, vocal cord paralysis and respiratory center paralysis, hoarseness or even loss of voice is often a precursor to respiratory central paralysis. Impaired hypothalamic can cause diuretic hormone can not be normal secretion syndrome; and thus cause convulsions, paralysis and even coma. Psychiatric symptoms are mainly schizophrenia, snoring and neurasthenia. After the onset of neuropsychiatric symptoms, the general prognosis is poor. In the advanced stage, cirrhosis, liver damage, and even jaundice, ascites, and hepatic encephalopathy often occur.
The urine is red when it occurs, such as wine. Sometimes the urine is normal when it is just discharged, but it turns red after exposure, acidification or heating, which is helpful for the diagnosis of this disease. Urinary excretion - aminolevulinic acid and bilirubin increased (normal humans discharge from the urine a ketovalerate 07 ~ 32mg per day), urinary bilirubin test positive, is an important laboratory basis for the diagnosis of this disease.
The disease is asymptomatic during the remission period. May be induced by mental stimulation, infection, trauma, alcohol, hunger, and the use of drugs such as barbital, chlordiazepoxide, methyl propylamine (methampine), sulfa drugs, phenytoin, griseofulvin, estrogen, etc. During the attack, the condition may be aggravated due to the above factors. The seizure of some female patients may be related to menstruation and pregnancy.
Other patients have a latent and asymptomatic course, and only urinary excretion-aminolevulinic acid and biliary tract are increased, which is called latent type. However, under the above-mentioned various predisposing factors, it can sometimes cause acute attacks.
2. The incidence of delayed skin type is more common in men after middle age, and the skin may have eczema-like, urticaria-like, summer pruritic rash and polymorphic erythema, which appear more often after exposure. When there is sufficient sunlight, the skin on the exposed parts of the body often has erythema with blisters due to minor trauma or pressure, and then the blister oozes, smashes, scars and forms scars. Chronic skin damage can be characterized by hairy, pigmented, miliary rash and similar scleroderma and dermatitis. There are varying degrees of liver damage caused by porphyrin deposition in the liver. Some patients have alcoholic cirrhosis, and some have liver adenomas. Drinking alcohol, using estrogen or iron, and contact with BHC are often the cause of the disease. At the time of onset, urine excreted urinary porphyrin I increased, and amino-amino valeric acid and scorpion scorpion were normal. At the time of remission, urinary porphyrin I decreased, while excretion of porphyrin increased.
3. The age of onset or variability is usually between 10 and 30 years old, and the clinical manifestations are characterized by the above two types. This type is a dominant hereditary hepatic porphyria in middle-aged whites in South Africa, dating back to a white family immigrating from the Netherlands. In addition to abdominal symptoms and neurological symptoms, there are skin-sensitive lesions in adulthood. The skin is sensitive to light and occasionally herpes. Skin lesions are intermittent and sometimes the only clinical symptom of this disease. Some patients have abdominal pain and weakness due to acute attacks. Mild mechanical skin trauma, sometimes induced by skin lesions. Women's skin lesions during pregnancy are more pronounced. In the intermittent period, barbiturates, chlorinated quinine, alcohol and anesthetics can induce acute attacks and should be considered as contraindications. Severe cases of abdominal symptoms, neurological symptoms and liver damage symptoms are similar to acute intermittent type. The disorder of porphyrin metabolism is characterized by urinary porphyrin and porphyrin precursors-aminolevulinic acid and scorpionogen negative in the intermittent or latent period, while a large amount of coproporphyrin and protoporphyrin are excreted in the feces. In the acute attack period, fecal porphyrin and protoporphyrin are excreted in large amounts in the feces, and urinary-aminolevulinic acid and bilirubin are also significantly increased, which is a diagnostic point.
4. Hereditary fecal porphyrin type can be seen at any age, equal in men and women, with a clear family history. The condition is faint and asymptomatic, and only fecal porphyrin is excreted. However, acute intermittent clinical manifestations can be induced by drugs such as barbital, methyl propylamine, and phenytoin. Skin lesions are rare, and individual patients may experience photoreceptive skin damage. Its biochemical diagnosis is characterized by a large amount of fecal porphyrin III excretion in the feces, but no protoporphyrin. The urinary coproporphyrin type III may not increase.
However, in the acute episode, the content of fecal porphyrin III in the urine and its precursors, bilirubin and -aminolevulinic acid increased, and of course, there was more fecal porphyrin III in the feces.
1. Acute intermittent diagnosis The most important basis for the disease is the presence of a large amount of ALA and PBG in the urine.
The disease is relatively rare and easily overlooked. Suffering from unexplained abdominal pain must consider the possibility of acute intermittent porphyria. Unexplained neurological disorders, especially peripheral nerve symptoms, local muscle weakness, loose sputum, etc., neuropsychiatric or psychotic factors are aggravated by taking barbiturate, or with menstrual cramps, or taking female hormones or birth control pills The authors must suspect the possibility of porphyria.
2. The most important finding of delayed skin type is that there are more urinary porphyrins and coproporphyrins in the urine, and the urine is red.
3. Mixed or variant type mainly manifests as dermal abrasion, superficial erosion and blisters after slight skin damage.
4. Some patients with hereditary fecal porphyrin type have photoreceptive skin lesions, and their clinical manifestations are similar to those of acute intermittent porphyria.
