Hu Qi Feng
About me
Since graduating in 2003, I have been working in pediatric clinical practice and have extensive experience in this field. In 2012, I completed a training program in the Pediatric Intensive Care Unit (PICU) at the Children's Hospital in Hunan Province, focusing on respiratory management and mechanical ventilation for critically ill children, as well as the treatment of septic shock.
Proficient in diseases
Specializing in pediatric critical care, dedicated to rescuing and treating children with critical conditions such as respiratory failure, heart failure, shock, poisoning, etc., and has been involved in the treatment of severe cases of hand, foot, and mouth disease multiple times.
Voices
How is phenylketonuria diagnosed?
Phenylketonuria screening is routinely conducted in China for all newborns. This involves pricking the heel to collect peripheral blood, which is then dropped on specialized filter paper and dried. The samples are sent to a screening laboratory for the measurement of phenylalanine concentration. If the concentration exceeds the threshold, further testing for phenylalanine is conducted. Normally, the concentration should be less than 120 micromoles per liter. Additionally, an analysis of the urinary purine profile can be performed.
Mechanism of phenylketonuria
Phenylketonuria is characterized by reduced activity of phenylalanine hydroxylase, which fails to convert phenylalanine to tyrosine, causing extremely elevated levels of phenylalanine in the blood, cerebrospinal fluid, and tissues. This leads to the production of large amounts of phenylpyruvic acid, phenylacetic acid, phenyllactic acid, and p-hydroxyphenylacetic acid via alternative pathways. High concentrations of phenylalanine and its metabolic products can cause brain damage, which manifests as developmental intellectual disabilities, changes in skin and hair pigmentation, and a mousy urine odor, all part of a clinical syndrome.
How to treat intussusception in children?
Intussusception is a life-threatening emergency that requires urgent reduction once diagnosed. Reduction methods include non-surgical and surgical therapies. Within forty-eight hours of intussusception, if the overall condition is good, there is no abdominal distension, and no significant dehydration or electrolyte imbalance, reduction can be attempted under ultrasound guidance using hydrostatic enema, air enema, or barium enema. If the intussusception has lasted beyond forty-eight to seventy-two hours, or if there is severe abdominal distention, intestinal necrosis, or perforation, surgical treatment is necessary.
Symptoms of iron deficiency anemia in babies
Any age can develop the disease, but it is most commonly seen between six months and two years old, with a relatively slow onset. Generally, there is a gradual pallor of the skin and mucous membranes, most notably in the eyes, lips, oral mucosa, and nail beds. Affected children tend to be fatigued and less active, and older children may experience symptoms such as dizziness and darkening before the eyes. Physical examination may reveal enlargement of the liver, spleen, and lymph nodes; the more severe the anemia, the more pronounced the enlargement. Anemia can lead to a decreased appetite, and in some cases, pica, such as a craving to eat non-food items like soil or walls, may occur. Symptoms may also include vomiting, diarrhea, glossitis, and stomatitis. There is a general listlessness, lack of concentration, impaired memory, and intelligence that may be lower than peers of the same age. Iron deficiency anemia can also lead to decreased cellular immune function, making infections more likely.
The pathogenesis of phenylketonuria
Phenylketonuria is an amino acid metabolic disease caused by a deficiency of phenylalanine hydroxylase. Phenylalanine is an essential amino acid for the human body, and it is partially converted into tyrosine by phenylalanine hydroxylase. Due to the reduced activity of phenylalanine hydroxylase, phenylalanine cannot be transformed into tyrosine. This leads to extremely high concentrations of phenylalanine in the blood, cerebrospinal fluid, and tissues. Through alternative metabolic pathways, large amounts of phenylpyruvic acid, phenylacetic acid, phenyllactic acid, and others are produced. High concentrations of phenylalanine and its metabolic products can cause brain damage.
Tetralogy of Fallot Emergency Measures
Generally, one should often drink water to prevent infection, prevent dehydration and complications. Infants and young children should be especially careful in their care, to avoid episodes of paroxysmal hypoxia. In mild cases of hypoxic episodes, placing them in a knee-chest position can alleviate the symptoms. In severe cases, oxygen should be administered immediately, along with the appropriate drug treatment. If the episodes cannot be effectively controlled with medication, emergency surgical intervention may be necessary. With the continuous improvement in surgical techniques this year, the mortality rate for curative surgeries has been decreasing.
Can intussusception heal itself?
Once intestinal intussusception occurs, only a small part can be spontaneously reduced. In most cases, urgent reduction treatment is required, including non-surgical and surgical treatments. Non-surgical treatment mainly involves enema therapy. Within 48 hours of the intussusception, if the overall condition is good, the abdomen is not distended, and there are no obvious signs of dehydration or electrolyte imbalance, barium enema treatment can be applied. If the duration of the intussusception exceeds 48 to 72 hours, or if the condition is severe with intestinal necrosis or perforation, surgical treatment is necessary.
Infant intussusception symptoms
Intussusception clinically presents with abdominal pain, which occurs in fits and starts and has a regular pattern. This manifests as sudden spasmodic colic; the child cries and is restless, drawing the knees up to the belly and turning pale. The pain lasts for several minutes or longer, then eases off, allowing the child to fall asleep quietly. These episodes recur every 10 to 20 minutes as intestinal movements provoke further attacks. Vomiting occurs, initially consisting of curdled milk or food residues and later containing bile-stained, feculent fluid. Moreover, blood in stools is an important symptom. Symptomatically, stools may appear normal for a few hours, but within six to twelve hours, 85% of affected children might pass jelly-like mucus blood stools. A palpable lump can be detected in the upper right abdomen, indicative of the point of intussusception. As for general symptoms, the child may appear well early on, but as the condition worsens, intestinal necrosis or peritonitis may occur, leading to severe dehydration, high fever, lethargy, coma, shock, and other signs of systemic toxicity.
Phenylketonuria inheritance mode
Phenylketonuria is an autosomal recessive genetic disorder, caused by a mutation in the phenylalanine hydroxylase gene leading to reduced enzyme activity. This results in the accumulation of phenylalanine and its metabolic products in the body, causing the disease. It is the most common congenital amino acid metabolism disorder and is clinically characterized by delayed intellectual development, changes in skin and hair pigmentation, and a mousy urine odor. The incidence of this disease in China is approximately 1 in 11,000, and it is inherited in an autosomal recessive manner.
What department should I go to for infant intussusception?
Intussusception often occurs in infants and young children, mainly presenting with vomiting, abdominal pain, and bloody stools. The first department usually visited is the emergency pediatrics. If intussusception is confirmed, treatment may involve surgery or non-surgical reduction. Therefore, after confirming intussusception, the patient needs to be transferred to pediatric surgery or general surgery for inpatient treatment.