Pediatric Blue Diaper Syndrome

Introduction to children's blue diaper syndrome Blue diaper syndrome, also known as bluediapersyndrome, with hypercalcemia of kidney stones and blue urine, blue sputum syndrome, Drummond syndrome, diaper blue syndrome, simple intestinal color Isolate absorption (isolatedintestinaltryptophanmalabsorption) and the like. Tryptophan is poorly absorbed in the gastrointestinal tract and is converted into sputum by bacterial action and is excreted in the form of urinary blue mother. It is named because the urine blue mother is exposed to air and is oxidized into urine blue mother blue. basic knowledge The proportion of illness: 0.002% Susceptible people: children Mode of infection: non-infectious Complications: kidney stones optic atrophy

The cause of children's blue diaper syndrome

(1) Causes of the disease

This disease is a congenital metabolic abnormality, the cause of which is abnormal metabolism of tryptophan in the patient.

(two) pathogenesis

Due to intestinal absorption of tryptophan, intestinal bacteria turn tryptophan into sputum, and then become urinary blue mother, which oxidizes into blue urine in the air, excretes blue urine and dyes sputum into blue Color, the sign is autosomal recessive inheritance, but it may also be sexual chain inheritance, the current genetic law has not yet been clarified, and other reports from vitamin D poisoning.

Pathological examination showed that the kidney has extensive focal calcium deposition, and the renal medulla is particularly obvious.

Pediatric blue diaper syndrome prevention

Precautions should be taken from pre-pregnancy to prenatal:

Pre-marital medical examination plays an active role in preventing birth defects. The size of the effect depends on the examination items and contents, including serological examination (such as hepatitis B virus, treponema pallidum, HIV) and reproductive system examination (such as screening for cervical inflammation). General medical examinations (such as blood pressure, electrocardiogram) and asking about the family history of the disease, personal medical history, etc., do a good job in genetic disease counseling.

Pregnant women should avoid harmful factors as far as possible, including away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, toxic and harmful heavy metals, etc. In the process of antenatal care during pregnancy, systematic screening of birth defects is required, including Regular ultrasound examination, serological screening, etc., if necessary, a chromosome examination.

Once an abnormal result occurs, it is necessary to determine whether to terminate the pregnancy; the safety of the fetus in the uterus; whether there is sequelae after birth, whether it can be treated, how to prognose, etc., and take practical measures for diagnosis and treatment.

Complications of children's blue diaper syndrome Complications, kidney stones, optic atrophy

The urine is bluish, the development is delayed, the mental retardation is low, and it is easy to re-infect, and it is more likely to die from refractory serious infection. Calcification and calcium deposition of various organ tissues occur frequently, and renal calcification, kidney stones and basal ganglia calcification, optic atrophy, and visual loss are more common. The child was pale, pygmy, flattened in the nose, with internal epithelium, nystagmus, squinting, optic disc edema, and optic atrophy.

Children's blue diaper syndrome symptoms Common symptoms Repeated infection pale complexion irritating urinary phosphorus hypercalcemia weight loss kidney calcification calcification eyeball tremor anorexia

1. Urine color blue: soon after birth, you will see blue urine, dyed sputum and clothing bedding, this phenomenon will continue to exist, as well as childhood.

2. Family history: There is a tendency for family disease.

3. Development characteristics: Delayed development, low intelligence, easy to re-infect, and more than refractory serious infection.

4. Hypercalcemia: Increased serum calcium, and more calcification and calcium deposition of various organs, more common is renal calcification, kidney stones and basal ganglia calcification, and the corresponding symptoms and functional failure.

5. Increased urinary phosphorus excretion: It may be due to the inhibition of phosphorus reabsorption by bismuth compounds in the renal tubules.

6. General performance: There may be anorexia, vomiting, constipation, irritability, weight loss, visual loss and other symptoms. The child is pale, pygmy, flattened in the nose, with internal ecchymosis, nystagmus, squinting, optic disc edema, Optic nerve atrophy.

Examination of children's blue diaper syndrome

1. Oral tryptophan load test: It can aggravate the symptoms and increase the amount of sputum compound in the urine, which is helpful for diagnosis.

2. Inhibition of intestinal flora test: Oral neomycin and other antibiotics inhibit intestinal flora, which can reduce symptoms and reduce urinary sputum compound content.

3. High serum calcium content: High calcium content, more than 12mg, and can be distinguished from Hartnup syndrome (the serum calcium is not high).

4. When there is kidney damage: Corresponding urine may appear, blood test changes, the inulin clearance rate and hippuric acid clearance rate are generally reduced, and the renal tubular phosphorus absorption rate is also low.

Conventional X-ray, B-ultrasound, urography, EEG, brain CT and other examinations can be found in abnormal calcification of tissues such as basal ganglia calcification, renal calcification, and kidney stones.

Diagnosis and diagnosis of children's blue diaper syndrome

diagnosis

According to the clinical manifestations and various examinations confirmed.

Differential diagnosis

It must be differentiated from Hartnup syndrome. The difference is that the metabolic abnormality of the syndrome is not limited to tryptophan. There are many transport and metabolic disorders of monoamine-monocarboxylic acid. Therefore, not only a large amount of urine blue can be excreted in the urine, but also other Amino acids, in addition to clinical manifestations of pellagra with rash, intermittent joint dysmotility, abdominal pain, chest pain, limb pain, etc. can be identified.

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