2014年 · 第52卷第06期

hyperphenylalaninemia (HPA) is a group of genetic metabolic diseases that lead to mental retardation in children. Two articles, "Consensus on the Diagnosis and Treatment of Hyperphenylalaninemia" and "Interpretation of the Consensus on the Diagnosis and Treatment of Hyperphenylalaninemia", jointly written by the Endocrine Genetics and Metabolism Group of Pediatrics Branch of Chinese Medical Association and the Newborn Screening Group of Birth Defect Prevention and Control Professional Committee of Chinese Preventive Medicine Association, will be published in this issue, which proposes a standardized process for the diagnosis and treatment of HPA, which is conducive to clinicians' understanding and improving the diagnosis and treatment of diseases and promoting the improvement of patients' prognosis.

hyperphenylalaninemia (HPA) is due to deficiency of phenylalanine hydroxylase (PAH) or its coenzyme tetrahydrobiopterin (BH₄) deficiency, a group of the most common amino acid metabolism diseases that lead to increased blood phenylalanine (Phe). With the development of disease diagnosis, differential diagnosis, treatment, neonatal screening and prevention technology, HPA has become a treatable and preventable disease, and is a model in the history of prevention and treatment of genetic metabolic diseases^[1,2,3]。

With the increase of chemotherapy intensity for high-risk, refractory or recurrent childhood leukemia and the application of allogeneic hematopoietic stem cell transplantation, the incidence of invasive fungal disease (IFD) in children is increasing year by year, which has become one of the important factors affecting the prognosis of children. IFD fungi invade human tissues, body fluids and blood, and grow and reproduce in them, resulting in tissue damage, organ dysfunction and pathological changes and pathophysiological process of inflammation^[1]。 Candida and Aspergillus are the most common pathogens of IFD in children with hematological diseases and malignant tumors, followed by Cryptococcus and Pneumocystis. A recent study by the Childrens Oncology Group (COG) showed that the mortality rate associated with acute non-lymphocytic leukemia (AML) infection was 11%, with more than half associated with Candida and Aspergillus infections^[2]。 Hematological malignancies are also the most important underlying diseases of Aspergillus infection in children's intensive care units^[3]。 The statistical results of 139 cases of invasive Aspergillus infection in children showed that hematological malignancies accounted for 62.6%, solid tumors accounted for 6.5%, congenital immunodeficiency accounted for 11.5%, solid organ transplantation accounted for 11.5%, HIV infection accounted for 0.7%, and others accounted for 7.2%^[4]。 Children with AML are more likely to develop fungal infections than children with acute lymphoblastic leukemia (ALL).

This issue published the "Consensus on the Diagnosis and Treatment of hyperphenylalaninemia" (referred to as "Consensus"), which was jointly written by experts from the Endocrine Genetics and Metabolism Group of Pediatrics Branch of Chinese Medical Association and the Newborn Screening Group of Birth Defect Prevention and Control Committee of Chinese Preventive Medicine Association, and put forward a normative consensus on the screening, diagnosis, treatment and follow-up of hyperphenylalaninemia (HPA). In order to facilitate the in-depth understanding of the "consensus", some of the diagnosis and treatment contents are elaborated and supplemented.

The child, a 17-day male, was admitted to the neonatology department of our hospital in August 2013 due to repeated wheezing and dyspnea for 17 days after birth, and aggravated for 15 hours after choking. The child is the fifth and second birth. Pregnancy^＋5Weekly cesarean delivery. Birth weight 3 600 g, normal Apgar score at birth, clear and abundant amniotic fluid. The umbilical cord and placenta are normal. After birth, the child appeared wheezing and dyspnea, with sound of throat, crying and obvious activity, occasionally coughing in a single voice, but no cyanosis, moaning and apnea. Within 24 hours after birth, he was admitted to the local neonatology department for hospitalization with "neonatal pneumonia". Blood test routine: white blood cells (WBC) 13.2×10⁹/L, neutrophils (N) 52%, lymphocytes (L) 44.3%, monocytes (M) 3.7%, C-reactive protein (CRP) 9 mg/L. Color ultrasound of the heart: patent ductus arteriosus. During hospitalization, he was given cefotaxime, cefepime, azithromycin anti-infective treatment and aminophylline anti-asthmatic treatment for 15 days without significant improvement. The discharge diagnosis was "neonatal pneumonia with patent ductus arteriosus". On the second day after discharge, the child was transferred to our hospital for treatment because of wheezing and dyspnea aggravated for 15 h after choking. The parents were not consanguineous, and there was no genetic history in the family. The mother had a history of adverse pregnancy. The first three births died in the uterus at about 2 months of pregnancy, and the fourth birth died unexpectedly at 1 year old after birth. Prenatal B-ultrasound of this pregnancy revealed polyhydramnios. Physical examination at admission: body temperature 37.2 ℃, heart rate 156 beats/min, breathing 56 beats/min, blood pressure 76/48 (59) mmHg. Head circumference 34.5 cm, weight 3 645 g, length 52 cm, clear reaction, bouncing the soles of the feet twice, crying loudly, no obvious cyanosis of the face and lips, visible flapping of the nose, obvious three concave signs, soft neck, obvious thickening of breathing sounds in both lungs, audible wheezing sounds and a small amount of wet rales. The heart rate was 156 beats/min, the rhythm was homogeneous without murmur, the heart sound was strong, the abdomen was soft, the liver was 2 cm under the costs and the texture was soft, the spleen was 0.5 cm under the costs and the texture was soft, the muscle tone of the limbs was normal, and the physiological reflexes could be drawn out.

A 2-year-old 11-month-old woman was admitted to the hospital on 28 June 2013 due to "cough, wheezing for 6 days and dyspnea for 3 days". Paroxysmal cough with wheezing 6 d before admission without fever and dyspnea 3 d before admission. Blood gas analysis from outside hospital: pH 6.99, PCO₂99.7 mmHg (1 mmHg =0.133 kPa), PO₂55 mmHg. Chest X-ray showed multiple nodules in the right upper lung with right lower pneumonia (Figure 1), diagnosed as "severe pneumonia, acute type II respiratory failure", given anti-infection and mechanical ventilation, the curative effect is not good, dyspnea is still severe, so transferred to our hospital. No previous history of wheezing. History of foreign body choking and cough denied. Denial of history of exposure to birds and tuberculosis. Admission physical examination: body temperature 37.3 ℃, heart rate 107 beats/min, breathing 30 beats/min, blood pressure 93/59 mmHg, consciousness, dark skin, no rash or bleeding spots all over the body, no abnormalities in head and facial features, and no edema of bulbar conjunctiva. Under mechanical ventilation, the right thoracic undulation was weak, the breathing sound of both lungs was coarse, the breathing sound of the right lung was significantly lower than that of the left, and no dry or wet rales were heard. There were no obvious abnormalities in heart, abdomen, spine, limbs and nervous system.

A 6-month-old child was admitted to the Children's Medical Center of Shiyan Taihe Hospital affiliated to Hubei Medical College on September 1, 2013 due to "cough and wheezing for 6 days". Paroxysmal cough, phlegm in the throat is not easy to cough up, no fever, no vomiting, diarrhea, the external hospital gave anti-infection, cough and asthma treatment for 6 days with "asthmatic bronchopneumonia" (specific medication unknown), the symptoms were not relieved well, and the child developed cyanosis of the lips, shortness of breath and labor, so he was transferred to our hospital. In the past, parents found that the child had mild cyanosis of the lips and nail bed after crying at 2 months old, and it was easy to stop feeding, and the amount of food consumed was not much, about 350~450 ml/d. Admission physical examination: body temperature 36.7 ℃, heart rate 158 beats/min, breathing 58 beats/min, weight 5.85 kg, conscious, poor response, moderate cyanosis of lips and nail bed, red throat, shortness of breath, laborious, obvious nodding breathing and inspiration three concave signs, soft neck, coarse breathing sounds in both lungs, wheezing sounds and small blisters can be heard, strong heart sounds, fast heart rate, uniform rhythm, 2/6 systolic murmur can be heard between 3~4 costs on the left margin of sternum, soft abdomen but not distended, liver and spleen are not palpable under the costs, limb movement and muscle tone are normal, and nervous system is not abnormal. Admission diagnosis: (1) asthmatic bronchopneumonia, (2) congenital heart disease?

The 20th International Congress on Nutrition was held in the city of Grenada, Spain, from 15 to 20 September 2013. The Congress was attended by 4,251 delegates from 120 countries, and 700 scholars presented their work in various fields. The conference, under the motto "Integrating Culture Through Nutrition", reflects the transformation of nutrition science from a purely physical study of nutrients to an exploration of the spiritual-cultural dimension of lifestyle and health.