What is Blue Diaper Syndrome?

Blue diaper syndrome, also known as blue urinary syndrome, hypercalcemia with kidney stones and urinary blue urine, cyanosis syndrome, Drummond syndrome, diaper blue staining syndrome, simple intestinal tryptophan absorption Defects, etc., are caused by the poor absorption of tryptophan in the gastrointestinal tract and are converted into indole by bacterial action, and are excreted in the form of urinary blue mother. It is named after urine blue mother is oxidized to urine blue when exposed to air.

Basic Information

nickname: Blue urinary syndrome, hypercalcemia with kidney stones and urinary blue mother urine, blue cricket syndrome, Drummond syndrome, diaper blue staining syndrome, simple intestinal tryptophan malabsorption
English name: pediatric blue diaper syndrome

Visiting department: Pediatrics
Multiple groups: Children
Common causes: Tryptophan metabolism abnormal, autosomal recessive inheritance
Common symptoms: Blue urine, anorexia, vomiting, constipation, irritability, weight loss, and decreased vision

Causes of Pediatric Blue Diaper Syndrome

The disease is a congenital metabolic abnormality, which is autosomal recessive or may be sexually linked. The cause is abnormal tryptophan metabolism in patients. Due to intestinal absorption of tryptophan, intestinal bacteria change tryptophan into indole and then into urinary blue mother, which oxidizes to urinary blue in the air, excretes blue urine and stains Blue, pathological examination showed extensive focal calcium deposits in the kidney, especially in the renal medulla.

Clinical manifestations of pediatric blue diaper syndrome

1. Blue urine

Due to the characteristic manifestations of this disease, blue urine, stained palate, and bedding will be seen shortly after birth. This phenomenon will continue to exist until childhood.

2. General performance

May have symptoms such as anorexia, vomiting, constipation, irritability, weight loss, and loss of vision. The child is pale, dwarf-shaped, and the bridge of the nose is flat, with inner skin cellulite, nystagmus, strabismus, disc edema, and optic nerve atrophy.

3. Development characteristics

Delayed development, mental retardation, repeated infections, and death from refractory severe infections.

4. Hypercalcemia

Serum calcium is increased, and calcification and calcium salt deposition in various organ tissues occur frequently. Renal calcification, kidney stones and basal ganglia calcification are more common, and corresponding symptoms and functional failure occur.

5. Increased urine phosphorus excretion

It may be because the indole compound inhibits phosphorus reabsorption in the renal tubules.

6. Family history

There is a tendency for familial disease.

Pediatric Blue Diaper Syndrome

Oral tryptophan stress test

Can aggravate symptoms and significantly increase the content of indole compounds in urine, which is helpful for diagnosis.

2. Intestinal flora test

Oral neomycin and other antibiotics inhibit the intestinal flora, reduce symptoms and reduce indole compounds in the urine.

3. High serum calcium content

Calcium content is high, more than 12mg, and can be distinguished from Hartnup syndrome (the disease has low serum calcium).

4. When there is kidney damage

Corresponding changes in urine and blood tests may occur. Generally the inulin clearance and the uric acid clearance are significantly reduced, and the renal tubular phosphorus absorption rate is also seen to be low.

5. Other

X-ray, B-ultrasound, urography, EEG, brain CT and other examinations can be used to find abnormal calcifications of the tissue, such as calcification of the basal ganglia, renal calcification, and kidney stones.

Diagnosis of pediatric blue diaper syndrome

Diagnosis can be confirmed based on clinical manifestations and laboratory tests.

Differential diagnosis of pediatric blue diaper syndrome

1. Different from Hartnup syndrome

The difference is that the metabolic abnormalities of the syndrome are not limited to tryptophan, but also a variety of monoamine-monocarboxylic acid transport and metabolic disorders. Therefore, not only a large amount of urinary blue is excreted in the urine, but also several other amino acids can be detected. The existing pellagra with rash, intermittent ataxia, abdominal pain, chest pain, and limb pain can be identified.

2. Identification with Pseudomonas aeruginosa infection

The diaper is bluish green due to Pseudomonas aeruginosa infection, or the bile green color in the urine of obstructive jaundice, and the intestinal bacteria increase due to other intestinal diseases, producing a false positive reaction of too much indole.

Pediatric Blue Diaper Syndrome Treatment

Early treatment considers a low tryptophan diet and controls vitamin D and calcium intake.

Hypercalcemia

Calcium-lowering treatment should be taken on a low-calcium diet. When there is significant hypercalcemia, conventional calcium-lowering therapy should be done.

(1) Low-calcium diet Generally speaking, the normal person's daily calcium intake is 800 mg, and the low-calcium diet should be less than 600 mg.

(2) Treatment of mild hypercalcemia The purpose of hypercalcemia treatment is to reduce blood calcium. There are different opinions on the management of hyperparathyroidism. For non-life-threatening hypercalcemia and normal bone mineral density, observation can be made to monitor serum calcium, renal function, bone density, and urine calcium excretion.

(3) Treatment of moderate hypercalcemia. Such patients are often symptomatic and related to the rate of increase of blood calcium. In addition to the treatment of the primary disease that causes hypercalcemia, the following treatment measures can be taken, including: intravenous infusion of saline to expand the volume, so that the patient is slightly "hydrated". Use diuretics (but do not use thiazide diuretics) to promote the rapid decline of blood calcium.

(4) The treatment of severe hypercalcemia should be treated urgently with or without symptoms. Treatment methods include: expanding blood volume; increasing urinary calcium excretion; reducing bone reabsorption; and treating primary diseases.

Secondary infection

Antibiotics should be used when patients develop secondary infections.

3. Inhibition of intestinal bacteria

In order to inhibit the bacteria in the intestine, intermittent sulfa drugs or neomycin can be taken orally to help inhibit the bacteria in the intestine, thereby reducing the decomposition of tryptophan that is not absorbed.

Prognosis of pediatric blue diaper syndrome

The prognosis of this disease is poor, and there are no reports of survival to adulthood.

Pediatric blue diaper syndrome prevention

Preventive measures should extend from pre-pregnancy to pre-natal:

Pre-marital medical examinations play an active role in preventing birth defects, and do a good job of counseling genetic diseases.

Avoid pregnant women as much as possible and perform chromosome tests if necessary.

Once abnormal results occur, it is necessary to determine whether to terminate the pregnancy; the safety of the fetus in the uterus; whether there are sequelae after birth; whether it can be treated; what is the prognosis;