High levels of urinary porphyrins in the urine are due to porphyria. Porphyria is a disorder of porphyrin metabolism characterized by increased excretion of porphyrins and porphyrin precursors in the urine and feces. Porphyria is a congenital disorder caused primarily by a deficiency of various enzymes related to heme synthesis and has a family history of occurrence. How to diagnose high urinary porphyrins in the urine? 1. Acute intermittent hematoporphyria is clinically common. According to the incomplete statistics of the First Affiliated Hospital of Zhongshan Medical College in the past 10 years, among 17 cases of hepatic porphyria, this type accounted for 15 cases. The age of onset ranged from 23 to 58 years, with 8 cases in the age group of 20-30 years. There were 7 male cases and 8 female cases, and the literature reported very few cases before puberty and after 60 years of age. Abdominal pain and/or neuropsychiatric symptoms were characteristic of the disease, and there was no photoreceptor skin damage because porphyrins were not increased in the body. The abdominal pain is sudden and varies in severity, usually moderate to severe colic or just a feeling of heavy pressure. The pain is paroxysmal or persistent, often widespread throughout the abdomen, and sometimes limited but not fixed in location. The abdomen is tender, with no fixed pressure points. It is often accompanied by nausea, vomiting and constipation. Sometimes, intestinal loops can be palpated in the abdomen, and peristaltic sounds are normal or diminished. Fever and elevated white blood cell count may be present. This has been reported to be misdiagnosed as an acute abdomen and a caesarean section has been performed. Sometimes the abdominal pain involves the back on one side and radiates to the bladder and external genitalia, while resembling renal colic. The duration and frequency of abdominal pain episodes vary, and the remission period can be long or short. Some patients have only one or two episodes and then never have them for life, but there are also patients who have one or two or even many episodes every year. It is generally believed that the cause of abdominal pain is due to an imbalance in the innervation of the small intestinal muscles due to autonomic neuropathy or the toxic effect of porphyrin precursors, which causes intestinal spasm. Neuropsychiatric symptoms are varied and often appear after or at the same time as abdominal pain, or may precede abdominal pain or appear alone. Peripheral nerve damage is manifested by upward paralysis of the limbs, abnormal sensation, loss of tendon reflexes, and sometimes positive ankle clonus and loss of Achilles tendon reflexes. 12 pairs of brain nerves can be involved, with facial nerve paralysis being the most common. Sinus tachycardia occurs with every attack and disappears in remission, and can be an indicator of disease activity. Brainstem involvement may present with dysphagia, vocal cord paralysis and respiratory center paralysis, with hoarseness or even loss of voice often being a precursor to respiratory center paralysis. Hypothalamic damage may result in a syndrome of failure to secrete diuretic hormone normally; this may lead to convulsions, delirium and even coma. Psychiatric symptoms are mainly similar to schizophrenia, hysteria and neurasthenia. After the appearance of neuropsychiatric symptoms, the prognosis is generally poor. In the late stage, cirrhosis, liver function damage, jaundice, ascites, hepatic encephalopathy and other serious conditions often appear. The urine is red and wine-like during the attack. Sometimes urine is normal in color when first excreted, but turns red after exposure, addition of acid or heating, which is helpful in diagnosing the disease. Increased urinary excretion of aminoketovaleric acid and porphobilinogen (07~32mg of aminoketovaleric acid is excreted from urine in normal people every day) and positive urinary porphobilinogen test are important laboratory basis for diagnosis of this disease. 2, late-onset cutaneous hematoporphyria Onset more after middle age, more common in men, the skin can have eczema-like, urticaria-like, summer itchy rash-like and polypoidal erythema, mostly appearing some time after exposure. Erythema with blisters often appears on exposed parts of the body after minor trauma or pressure in full sunlight, and later bleeds, erupts, crusts and forms scarring within the blisters. Chronic skin damage may include hirsutism, hyperpigmentation, milia, and manifestations similar to scleroderma and dermatitis. There is varying degrees of liver damage, which is caused by porphyrin deposition in the liver. Some patients have alcoholic cirrhosis, while others have hepatic adenomas. Alcohol consumption, use of estrogen or iron, and exposure to hexaproline are often triggers for the onset of the disease. During an attack, urinary excretion of uroporphyrin I is increased, and -aminoketovaleric acid and porphobilinogen are normal. In remission, urinary excretion of uroporphyrin I decreases, while fecal excretion of porphyrins increases. 3, mixed type or variant porphyrias The age of onset is mostly 10-30 years old, and the clinical manifestations have the characteristics of both types. This type is a dominantly inherited hepatic porphyria among middle-aged whites in South Africa, and can be traced to a white family that immigrated from the Netherlands. It develops in adulthood with abdominal and neurological symptoms as well as cutaneous photosensitivity lesions. The skin sensitivity to light is mild, with occasional herpes. The skin lesions become intermittent and are sometimes the only clinical symptom of the disease. Some patients have acute attacks with abdominal pain and paralytic weakness. Slight mechanical skin trauma sometimes induces skin lesions. Skin lesions are more pronounced in women during pregnancy. Acute attacks can be induced by barbiturates, quinine chloride, alcohol and narcotics during intermittent periods and should be considered a contraindication to their use. Severe cases have abdominal symptoms, neurological symptoms, and symptoms of hepatic impairment similar to those of the acute intermittent form. The disorder of porphyrin metabolism is characterized by negative urinary porphyrins and porphyrin precursors-aminolevulinic acid and porphobilinogen-during the intermittent or latent phase, while large amounts of fecal porphyrins and protoporphyrins are excreted in the feces. In the acute phase, a large amount of fecal porphyrins and protoporphyrins are excreted in the feces, and the urinary -aminolevulinic acid and porphobilinogen are also significantly increased, which is the main point of diagnosis. 4, hereditary fecal porphyria type can be seen at any age, male and female equal, with a clear family history. The disease is latent and asymptomatic, and only the fecal discharge of fecal porphyrins increases. But in barbiturate, meprobamate (Meprobamate), phenytoin sodium and other drugs induced by the clinical manifestations of acute intermittent type can appear. Skin lesions are rare, and individual patients may develop photosensitive skin lesions. Its biochemical diagnosis is characterized by a large amount of fecal porphyrin III excretion in the feces, but no protoporphyrin. Urinary fecal porphyrin type III may not be increased. However, when an acute attack occurs, urinary fecal porphyrin III and its precursors porphobilinogen and -aminolevulinic acid are increased, and fecal porphyrin III is certainly more abundant in the feces.