Infant blue diaper syndrome

　　This syndrome is a congenital metabolic disorder, and its etiology is the abnormal metabolism of tryptophan in the patient's body. Due to the absorption disorder of tryptophan in the intestines, intestinal bacteria convert tryptophan into indole, and then into urobilinogen. Urobilinogen is oxidized into urobilin in the air and stains the diapers blue. This syndrome is autosomal recessive inheritance, but it may also be sex-linked inheritance.

　　In addition to clinical manifestations, infant blue diaper syndrome can also lead to calcification and calcium salt deposition in various organs and tissues, most commonly renal calcification, renal calculi, and basal ganglia calcification, which should attract the high attention of clinical doctors and patients.

　　The child's urine color turns blue soon after birth, and it stains the diapers and clothing. This phenomenon will persist until childhood. The child's development is delayed, and intellectual disability can be seen. The disease is prone to recurrent infections. Most children die of refractory severe infections. The child may have symptoms such as anorexia, vomiting, constipation, weight loss, and decreased vision. The child has pale complexion, flat nose bridge, epicanthus, nystagmus, strabismus, papilledema, and optic atrophy, etc.

　　In the prevention of this disease, it should refer to the prevention methods of congenital diseases. Preventive measures should be implemented from pre-pregnancy to the perinatal period.

　　1. Pre-marital physical examination plays a positive role in preventing birth defects. It mainly includes serological tests (such as hepatitis B virus, syphilis spirochete, HIV), reproductive system examination (such as screening for cervical inflammation), general physical examination (such as blood pressure, electrocardiogram), and inquiries about family history of diseases and personal medical history, and to do well in genetic counseling work.

　　Pregnant women should try to avoid harmful factors, including staying away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, and toxic and harmful heavy metals. During the prenatal health care process of pregnancy, systematic screening for birth defects should be carried out, including regular ultrasound examination, serological screening, and chromosomal examination if necessary.

　　The examination of this disease mainly includes laboratory examination and auxiliary examination.

　　First, laboratory examination

　　1. Oral tryptophan loading test: After oral administration, symptoms worsen, and the content of indole compounds in urine increases significantly, which is helpful for diagnosis.

　　2. Inhibition of intestinal flora test: Oral neomycin and other antibiotics can suppress intestinal flora, which can alleviate symptoms and reduce the content of indole compounds in urine.

　　3. Serum calcium: The calcium content in serum is high, more than 12mg.

　　Second, auxiliary examination

　　Routine X-ray, B-ultrasound, electroencephalogram, brain CT, and other examinations can detect abnormal calcification shadows in tissues, such as calcification of the basal ganglia, renal calcification, and kidney stones.

　　The diet of children with blue diaper syndrome should be light, mainly low-protein and low-fat foods. It is advisable to eat foods rich in vitamin B. To prevent the exacerbation of hypercalcemia, a low-calcium diet should be adopted. Generally speaking, the normal daily calcium intake is 800 milligrams, and the low-calcium diet should be less than 600 milligrams, but it should be balanced to intake foods with low calcium content. It is forbidden to eat foods rich in oxalates. In addition, patients should also limit the intake of vitamin C.

　　The main methods of treatment for this disease are as follows:

　　1. Calcium reduction therapy

　　This disease is suitable for a low-calcium diet. When there is a significant increase in blood calcium, routine blood calcium reduction therapy should be performed.

　　2. Antibiotic treatment

　　Children with secondary infection should be treated with antibiotics.

　　3. Inhibition of intestinal bacteria

　　Intermittent oral sulfonamide drugs (sulfonamide drugs that are not easily absorbed by the intestines) or neomycin can help suppress intestinal bacteria, thereby inhibiting the decomposition of undigested tryptophan.

　　4. Low-protein diet

　　A low-protein diet, which reduces the intake of tryptophan, is helpful for the treatment of the disease.