Congenital photosensitivity porphyria in children

Introduction to Congenital Photosensitive Porphyria in Children Günther Syndrome, Günther syndrome, also known as Günther disease, erythropoietic uroporphyria, congenital erythropoietic prophyria. The activity of urinary protoporphyrinogen III and synthetase in red blood cells caused by autosomal recessive inheritance is clinically characterized by red urine in infants and young children, and porphyrins are detected by spectroscopic examination. Clinically, there are symptoms such as rash, herpes or abdominal pain. . basic knowledge The proportion of illness: 0.001% Susceptible people: children Mode of infection: non-infectious Complications: herpes

Pediatric congenital light-sensitive porphyria etiology

Urinary porphyrinogen III and synthetase activity decreased by autosomal recessive inheritance, urinary porphyrinogen I could not complete pigment metabolism in normal order, forming excessive urinary porphyrin I and coproporphyrin I from urine Discharged in the middle to make the urine red.

Erythropoietic porphyria: In the nucleus of nucleated red blood cells, the porphyrin is disordered, and the ratio of porphyrin type I and type III changes. The former has increased yield, and its basic defect is congenital disorder in heme biosynthesis. The -aminolevase synthetase increased, the nucleus of red blood cells produced too much porphyrin, the protoporphyrin and coproporphyrin in red blood cells increased significantly, the production of uroporphyrin increased, and urinary porphyrinogen I could not form urinary porphyrin III. Instead, it forms urinary porphyrin I and coproporphyrin I. These porphyrins sensitize the skin to ultraviolet light with a wavelength of 400 m in circulating blood, produce fluorescent and harmful photoreactions, cause skin lesions, and can also deposit in bone marrow and teeth. Inside, but not significant in the liver.

Liver type: also congenital internal abnormalities, excessive porphyrin precursor or porphyrin in the liver, often accompanied by impaired liver function, while the porphyrin in the bone marrow is normal, and the porphyrin in the red blood cells is normal.

Symptomatic type: liver disease, acute fever such as pneumonia, rheumatic fever, etc., metal and drug poisoning such as arsenic, sulfonamide, barbital, etc., as well as blood diseases such as leukemia, anemia, etc. The urinary porphyrin can be slightly increased.

Congenital photosensitive porphyria prevention in children

Prevent the birth of a sick baby:

1. Prohibit close relatives from getting married.

2. Premarital examination to discover genetic diseases or other diseases that should not be married.

3. The detection of the carrier is determined by group census, family survey and pedigree analysis, laboratory examination and other means to determine whether it is a genetic disease, and determine the genetic mode.

4. Genetic counseling.

5. Prenatal diagnosis of prenatal diagnosis or intrauterine diagnosis is an important measure of preventive eugenics.

A patient who is already sick:

Patients should avoid exposure to sunlight, wearable special materials such as clothing containing zinc oxide or titanium oxide materials, gloves and wide-brimmed hats for the prophylactic application of some cosmetics containing bismuth (such as henna) and dihydroxyacetone. Applying a tan to the skin may be effective.

Dietary sugars have the effect of inhibiting ALA synthetase, so high glucose intake is quite effective in preventing and treating the onset of most cases. In acute attacks, 10% to 25% glucose or fructose at a rate of 10 to 15 g/h, intravenous infusion for 24 hours with a high-glucose diet can quickly relieve symptoms.

Pediatric congenital light-sensitive porphyria complications Complications herpes

The skin is prone to pigmentation, the conjunctiva, cornea and iris can be similar to herpes lesions, leading to blindness.

Pediatric congenital light-sensitive porphyria symptoms common symptoms brown urine sun exposure caused by skin allergies herpes edema scarring light skin damage

Quite a disparity, depending on the type, the porphyrin excretion increased at the common point, but the change of urine color is different, the heavy one can have obvious urine color change, the light urine color looks as usual, and the porphyrin in the urine The concentration inside is related.

1. erythropoiesis-type porphyria disease: also known as congenital porphyria disease, multiple acute exacerbations, more men than women, young children can be onset, the most noticeable symptoms are skin sensitivity to sunlight, mechanical stimulation More allergic, skin exposed parts such as face, hands such as itch, edema, followed by herpes, containing serum, herpes may be accompanied by pustules or central necrosis, pigmentation scars after scarring, skin easily pigmented Sinking, teeth, nails and bones can be porphyrin sedimentation and red, brown or yellow, can be hairy, conjunctiva, cornea and iris can be similar to herpes lesions, can lead to blindness.

Occasionally, red-brown urine appeared shortly after birth or after birth. The initial performance was that the diaper was dyed reddish or brownish red, sometimes not noticed.

2. erythropoiesis-type protoporphyrin disease: has familial, dominant hereditary, no significant gender differences, can occur after birth, mainly skin symptoms, short-term exposure to sunlight can cause itching or tingling, Then there is erythema and edema. This type is lighter than the above-mentioned erythropoiesis-type porphyria, and it does not develop into vesicles and ulcers. Hairy and pigmentation are not common. The teeth are not fluorescent, and the condition is mostly transient. Within a few days. Regression, occasionally prolonged such as eczema-like lesions.

Pediatric congenital light-sensitive porphyria examination

1. Urine test: There are a lot of urinary porphyrin I and a small amount of coproporphyrin I in the urine.

2. Fecal examination: There is a large amount of fecal porphyrin I and a small amount of urinary porphyrin I in the feces.

3. Bone marrow and blood: Both can show changes in hemolytic anemia.

4. Porphyrins in erythrocytes: The content of urinary porphyrin I and coproporphyrin I increased in mature red blood cells, young red blood cells and reticulocytes.

5. Spectroscopic examination: The urinary porphyrin spectroscopic examination has an absorption band at 552 m.

6. Fluoroscopy: After the erythrocyte nucleus is irradiated with ultraviolet light, it is fluoroscopy to show fluorescence.

X-ray chest X-ray can be routinely performed, B-ultrasound examination.

Diagnosis and identification of congenital photoreceptor porphyria in children

diagnosis

Porphyrin disease is rare, clinically often misdiagnosed, if it is not easy to confirm the diagnosis, the most recent experimental test method is spectroscopic light band test, followed by chemical examination, fluorescence microscopy of bone marrow red blood cells or ultraviolet light to check dentin Can help diagnose.

Differential diagnosis

1. Hemolytic anemia: Erythropoietic porphyria must be differentiated from common hemolytic anemia.

2. Acute abdomen: Acute type of hepatic porphyria should be differentiated from acute abdomen.

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