Hepatic hematoporphyria syndrome

Introduction to hepatic porphyria syndrome Porphyria Hepatica Syndrome is also known as Waldenstrom syndrome, acute intermittent porphyria (Acnte Intermittant Porphyria AIP). Intrinsic is a series of syndromes caused by intermittent episodes of abdominal pain, vomiting, constipation and neuropsychiatric symptoms caused by disorder of intrahepatic porphyrin metabolism. The incidence of young adults is more. basic knowledge The proportion of sickness: 0.0001% - 0.0002% Susceptible people: good for young adults Mode of infection: non-infectious Complications: electrolyte imbalance

Causes of hepatic porphyria syndrome

The disease is an autosomal dominant hereditary disease. In the process of porphyrin metabolism to synthesize bilirubin, due to the lack of scorpion succinase, the bilirubin can not be metabolized and accumulated in the body, which reduces the synthesis of bilirubin. The action increases the activity of -aminolevulinate synthase, and as a result, the production of -aminolevulinic acid and bilirubin is increased in vivo, and their increase can play a toxic role in the neurotransmission function through direct or indirect mechanisms, thereby causing The onset of the disease.

Hepatic porphyria syndrome prevention

1. Avoid incentives: such as overwork, mental stimulation and hunger, infection, etc. Avoid sun exposure and trauma, apply sunscreen, and a proper diet.

2, high sugar diet, alcohol, acute episodes, intravenous infusion of 10% glucose solution 100-150ml / h, or 25% glucose solution 40-60ml / h, continuous 24h, with high sugar diet can quickly relieve symptoms. Those with impaired glucose tolerance can be treated with insulin.

Hepatic porphyria syndrome complications Complications electrolyte disorder

It can cause water and electrolyte imbalance.

Hepatic porphyria syndrome symptoms Common symptoms Abdominal pain, weakness, nausea, more urinary porphyrin constipation, high blood pressure, depression, illusion, tachycardia

Because the disease is relatively rare, and the symptoms are not special, often caused by misdiagnosis, can be misdiagnosed as cholelithiasis, ulcer disease and neuropsychiatric diseases, reported misdiagnosis rate of up to 73%, so the key to diagnose this disease is to improve The vigilance of this disease. The clinical manifestations of this disease vary greatly. The intermittent hair loss of small abdominal cramps and neuropsychiatric symptoms can be induced by taking barbiturates, sulfa drugs or stress states. The abdomen is characterized by severe cramps and constipation. Nausea and vomiting, similar to acute abdomen, but there is no fixed part of abdominal pain, no abdominal rebound and muscle tension, peripheral motor neurological disorders are weak and weak limbs, sputum, even soft palate, mental symptoms are melancholy, insanity, Hallucinations, etc., symptoms often repeated acute attacks, can last from several days to a dozen days, in addition to autonomic dysfunction, such as tachycardia, hypertension, urinary retention, due to -aminolevulinic acid and bilirubin Increased renal excretion, the patient's urine can be converted to red or brown when exposed to sunlight, which is a very important feature of the disease.

Examination of hepatic porphyria syndrome

Laboratory tests for 24-hour urine urinary porphyrin, increased excretion of fecal porphyrin, 24-hour urinary bilirubin, increased -aminolevulinic acid, determination of red blood cell uroporphyrinogen synthetase deficiency (normal > 30mmol / / 1ml Red blood cells · h).

Diagnosis and diagnosis of hepatic porphyria syndrome

diagnosis

Diagnosis can be based on medical history, clinical symptoms, and laboratory tests.

Differential diagnosis

1. Cholelithiasis.

2. Ulcer disease.

3. Neuropsychology.

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