2014年 · 第52卷第07期

Since the 20th century, with the great changes of human disease spectrum, hereditary diseases as chronic non-communicable diseases have become the main diseases that threaten human health more and more. The great progress of biological science and technology and its wide application in the medical field directly promote the improvement of the diagnosis, treatment and prevention of hereditary diseases. As a front-line clinical doctor, how can we correctly apply these new scientific and technological achievements to provide better, more advanced, more comprehensive and in-depth medical services for children and their families? In this regard, the author tries to take the diagnosis and treatment of hereditary kidney diseases as an example to talk about some ideas, aiming to draw ideas and arouse in-depth thinking and discussion on the diagnosis and treatment of hereditary diseases. The reason why hereditary kidney disease is chosen as an example is that, on the one hand, the author and his team have a lot of experience in the diagnosis and treatment of hereditary kidney disease for many years, and have accumulated some experience. It may be more practical to discuss by example; On the other hand, in the past, when talking about hereditary diseases, the organ systems often involved seem to be mostly the nervous system, but the hereditary diseases of other organ systems are ignored. Therefore, taking hereditary kidney diseases as an example to discuss related problems should be used for reference in the diagnosis and treatment of other systemic hereditary diseases.

Edema is one of the main manifestations of nephrotic syndrome, which can be divided into mild, moderate and severe according to its degree, and its formation mechanism is complex. Regarding the treatment of edema in children with nephrotic syndrome, traditional methods include low-sodium and salt-restricted diet, intravenous infusion of plasma, albumin and low-molecular weight dextran, and application of diuretics and diuretic mixtures. Most children with nephrotic syndrome edema can be relieved after the above treatment, but some children have severe water and sodium retention, and the efficacy is often poor or relapses after conventional treatment. This condition is commonly referred to clinically as refractory (refractory) edema. Refractory or refractory edema has always been the focus and difficulty in the treatment of nephrotic syndrome in children. Severe edema may be complicated with life-threatening complications such as heart failure, pulmonary edema, hypovolemic shock and even acute renal failure. In recent years, some scholars have proposed that blood purification technologies such as isolated ultrafiltration (IUF), hemodialysis, sequential dialysis, slow continuous ultrafiltration (SCUF) and renal continuous replacement therapy can be considered for the treatment of nephrotic syndrome edema, and related clinical studies have proved that blood purification has certain curative effect in the treatment of severe edema of nephrotic syndrome. However, blood purification technology is an invasive treatment after all, and there are risks such as complications and adverse reactions. Therefore, it is necessary to conduct a reasonable disease assessment and strictly follow its indications before application. This paper focuses on the rational application of blood purification in severe edema of nephrotic syndrome and related matters for attention.

The abnormalities of mitochondrial structure and function caused by various genetic defects can trigger multi-system energy metabolism disorders and lead to mitochondrial encephalomyopathy. Recent studies have found that mitochondrial dysfunction caused by genetic defects in various mitochondrial genes or nuclear genes can also lead to kidney diseases, such as mitochondrial DNA A3243G mutation^[1]Deletion of large mitochondrial DNA fragments^[2]、PDSS2Gene^[3]、COQ2Gene^[4]AndADCK4Gene mutation^[5]It can lead to steroid-resistant nephrotic syndrome in children, and the pathology is mostly focal segmental glomerulosclerosis (FSGS). This type of mitochondrial-associated nephropathy can occur alone, without manifestations of mitochondrial encephalomyopathy, and is ineffective for hormone therapy and immunosuppressant therapy, and some patients are effective for coenzyme Q10 therapy. Knowing the clinical characteristics of such diseases is helpful for early detection and accurate diagnosis and appropriate treatment. At present, there is a lack of reports on such diseases in China. Now, we focus on the clinical characteristics, diagnosis and treatment effects of such diseases.

Obesity is a serious public health problem faced worldwide. According to WHO statistics, the overweight rate of children in the world reaches 10%, and the obesity rate is 2% ~3%. The incidence of childhood obesity in developed countries is about 20%; In 2006, a sample survey of 11 cities in China showed that the obesity rate of children aged 0-6 was 7.2%, an increase of 3.6 times compared with 1996^[1]The childhood obesity rate is increasing year by year. Recent studies suggest that obesity can be traced back to the overnutrition of newborns after maternal pregnancy due to excessive weight gain, and then programmatically lead to childhood obesity and increase the risk of adult obesity^[2]。 Therefore, the prevention of childhood obesity should start early in life. Previous studies have confirmed that genetics, environment, diet, metabolism and immune abnormalities are many factors leading to obesity. Recent literature reports show that obese individuals have intestinal micro-ecological imbalance, and whether there is a "causal" relationship between the two is still undetermined. Some scholars believe that intestinal flora is involved in the occurrence of obesity as an "environmental factor"^[3,4]Initial colonization of intestinal flora in early life is associated with the risk of long-term obesity^[5]。 This issue is discussed, and the mechanism of childhood obesity is elucidated from the interaction between intestinal microecological changes and intestinal nutrient metabolism.

A female, 1 year and 5 months old, was admitted to the Department of Cardiology of Zhengzhou Children's Hospital on August 9, 2013 with "fever for 2 weeks, cough for 1 week and wheezing for 2 days". Two weeks before admission, fever, chills and convulsions occurred without obvious trigger. Oral anti-inflammatory drugs and antipyretic drugs (specific drugs unknown) were given to the local outpatient clinic, but the efficacy was not good. The thermal peak increased to 40.2℃, and it could be reduced to normal after antipyretic drugs were given, but it was easy to repeat. Later, he was admitted to the local hospital for anti-infective treatment. Echocardiography showed that: (1) the right atrium was solid occupied, and the possibility of myxoma was high; (2) moderate tricuspid regurgitation; (3) The left ventricular systolic function was normal at rest. Paroxysmal cough with sputum and secondary frequency occurred 1 week before admission. Two days before admission, the fever peak increased again, reaching 39.1℃, accompanied by wheezing, shortness of breath, and cough as before. Not improved, transferred to Zhengzhou Children's Hospital. Physical examination at admission: heart rate 128 beats/min, facial edema, with the right side as the presence. A systolic murmur of grade 2/6 to 3/6 was heard in the precordial area. There was edema in both feet, mainly on the right side. Admission diagnosis: (1) bronchopneumonia, (2) pleural effusion (right side), (3) myxoma (right atrium)? (4) tricuspid regurgitation, (5) sepsis. Echocardiogram: A channel was seen in the left and right chambers (Figure 1), the communication opening was about 5.2 mm, and a loose and slightly stronger echoic mass was seen around the communication opening in the right atrium and in the lower part of the interatrial septum (Figure 2), size approx. 20.4 mm ×17.9 mm ×17.5 mm. Color Doppler flow imaging: velocity of blood flow at a traffic port, continuous spectral Doppler: 4.18 m/s. Ultrasound diagnosis: Left ventricle right atrial passage, slightly stronger echoic mass in the right atrium. Laboratory test: blood routine: white blood cells 22.15×10⁹/L, neutrophils 0.764 4, lymphocytes 0.202 4. N-terminal brain natriuretic peptide precursor 4 351 ng/L; procalcitonin 0.185 μ g/L; Epstein-Barr virus DNA 1.20×10⁸Copies/L, cytomegalovirus DNA<5.00×10⁵Copies/L, Coxsackie virus antibody IgM positive; Immunoglobulin A 0.15 g/L, Immunoglobulin G 4.74 g/L; CRP 47.76 mg/L. Two blood cultures suggested Staphylococcus aureus infection. Liver and kidney function and myocardial enzymes were normal. The pathological findings suggested that it was consistent with suppurative endocarditis of the right atrium.

Female, 5 years old and 8 months old, mainly due to left eyelid and facial muscle twitching for more than 5 years. The child's left eyelid occasionally blinked for several seconds for more than 10 days after birth, but the parents did not pay attention to it. One month later, it developed to blink of the left eyelid with the corner of the mouth skewed to the upper left, and the left facial muscle twitched for several seconds. There were attacks when waking up and sleeping, and there was no disturbance of consciousness without limbs twitching. The attacks became more frequent, with attacks occurring every 2 to 5 minutes every 3 months, manifested as tonic contraction of the left eyelid and facial muscle, lasting for 2 to 10 s, and in severe cases, accompanied by stiffness of the left limb. The local consideration was "epilepsy?" No medication was used. Electroencephalogram examination was performed at 5 months, and there were no epileptiform discharges in the interseizure and seizure period. Left hemifacial spasm was considered as non-epileptiform seizure. Cranial magnetic resonance imaging (MRI) was performed, which showed that the left cerebellar upper and middle feet occupied massive mass, and the lesions were not enhanced. Hamartoma or astrocytoma were considered. So he went to the neurosurgery department. Because the relationship between cerebellar occupancy and facial twitch could not be determined, and the surgical risk was high, surgical treatment was not recommended. After repeated MRI of the head, there was no change in cerebellar space-occupying lesions (Figure 1), and electroencephalogram examination was performed in multiple hospitals. At the age of 1 year, the electroencephalogram showed no abnormal discharge between attacks, and the right middle temporal low amplitude fast wave during the attack, which evolved into medium amplitude sharp spike wave. Electroencephalogram at 3 years old showed right midfrontal spikes in the interparoxysmal period, clinically seizure-free. At 4 years and 7 months, slow waves increased in the interval of EEG attacks, occasionally with sharp and slow waves on the right frontal side, and slow waves on the right or bilateral frontal and central side during the attack. The symptoms of the children were alleviated at the age of 2 years, and the interval between attacks was 3~20 min and lasted 6~20 s. The 4-year-old and 8-month-old was treated with levetiracetam at a dose of 25 mg/ (kg·d) due to "epilepsy", but the effect was not obvious. And 5 to 6 consecutive seizures at night for 12 h, so he came to the First Hospital of Peking University for treatment. Reexamination of EEG showed mild asymmetry in the background occipital area and low amplitude on the right side. Multiple seizures were detected, and no abnormal changes were observed. Considering the possibility of non-epileptic seizures. The child's motor development is slightly behind, and he can walk at the age of 1 and a half. At present, his intelligence and motor development are normal, and his family history is not special. Physical examination: The abduction of the left eye was slightly limited, and there was no abnormality. The diagnosis of neonatal hemifacial spasm and cerebellar tumor recommends neurosurgical diagnosis and treatment, and the discontinuation of antiepileptic drugs.

November 8 – 9, 2013 The Second European Human Milk Bank Congress was held in Istanbul, Turkey. Sertac Aslanoglu, Executive President of the General Assembly (President of the Turkish Society of Human Milk Banks), presented the long history of human milk banks in Turkey. There are two human milk banks in Turkey, and there are two human milk banks to be built. The human milk donation system and working network have also been improved. According to the statistics of the World Health Organization (WHO) in 2013, the breastfeeding rate of Turkish babies within 6 months after birth reached 42%, the breastfeeding rate on the first day after delivery reached 73%, and the breastfeeding rate in the first hour after delivery reached 39%. At the same time, the morbidity and mortality rate of infants and young children across the country have dropped significantly. Therefore, the current Congress has chosen to be held in the city of Istanbul. Another slogan of the congress is: "East and West meet: different cultures and traditions, same breast milk bank". It means that Istanbul, a city spanning the Eurasian continent, held this European Human Milk Bank Conference here, with representatives from China and other Asian countries participating, which fully shows the great historical significance of this conference in the history of cultural exchanges between the East and the West.