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Zeng Hai Jiang
Pediatrics
About me
Deputy Chief Physician, working in the Pediatrics Department of Ganzhou City People's Hospital.
Proficient in diseases
Specializes in nephrotic syndrome in children.
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"Phenylketonuria weakly positive" means what?
The indication of weakly positive phenylketonuria suggests a re-examination of blood phenylalanine levels. Generally, there are no obvious specialized clinical symptoms of phenylketonuria in the newborn period. Some newborns may experience feeding difficulties, vomiting, or irritability, and the manifestations of phenylketonuria gradually appear after three months of age. Currently, hospitals routinely screen newborns for phenylketonuria. This screening is conducted 72 hours after birth and must be completed by no later than 20 days post-birth. If the result of the blood phenylalanine test is weakly positive or positive, further testing is generally recommended to determine whether the infant has phenylketonuria or if other factors are affecting the phenylalanine levels.
Can phenylketonuria be detected before a newborn is born?
Phenylketonuria can be screened prenatally before the birth of a newborn. The procedure involves genetic screening using amniotic fluid drawn through amniocentesis between the 16th and 20th week of pregnancy. Phenylketonuria is an autosomal recessive hereditary disease, greatly associated with chromosomal abnormalities. If chromosomal abnormalities are detected through amniocentesis, indicating the presence of pathogenic genes, it confirms that the fetus will be born with phenylketonuria. If both parents carry the relevant genes, prenatal screening is still necessary to rule out the risk of the disease in the fetus.
Do adults with phenylketonuria need to eat special food?
Phenylketonuria may not necessarily require a special diet in adulthood. It is the first genetic metabolic disorder that can be treated through dietary control. Natural foods all contain a certain amount of phenylalanine, so once children with phenylketonuria are diagnosed, they should stop their natural diet and instead be given a low-phenylalanine diet. Low-phenylalanine formula treatment should continue at least until the age of 12. When the concentration of phenylalanine in the blood is controlled at an ideal level, a gradual addition of natural foods can be made. Larger infants and children can add foods such as milk, porridge, noodles, and eggs. However, these added foods should still primarily be low in protein and low in phenylalanine.
What foods should children with phenylketonuria eat?
Phenylketonuria is a common amino acid metabolic disorder, an autosomal recessive genetic disease, and a type of hereditary metabolic disease that can be treated through dietary control. All natural foods contain certain amounts of phenylalanine. Therefore, once diagnosed, children should stop consuming natural diets and start treatment with a phenylalanine-restricted diet, including low-phenylalanine yogurt. Treatment should continue at least until the age of 12. When the concentration of blood phenylalanine is controlled at an ideal level, gradually add small amounts of natural food, adhering to the principle of low protein and low phenylalanine in the added foods.
Is whooping cough without the crowing sound getting better?
Pertussis without a crowing sound indicates recovery. Pertussis, also known as whooping cough, is an acute respiratory infection caused by Bordetella pertussis, commonly seen in children. The progression of pertussis can be divided into three stages: The first stage is the catarrhal stage, also known as the pre-paroxysmal stage. At the early stage, the child shows symptoms similar to the common cold, followed by worsening cough. If the condition is not effectively controlled during this stage, It then progresses to the second stage, the paroxysmal stage. During the paroxysmal stage, the child exhibits characteristic episodic spasmodic coughing and crowing inhalation sounds. This period can last up to two months. Finally, it moves into the recovery stage. In the recovery stage, the frequency and severity of the episodic spasmodic cough and crowing inhalation sounds gradually alleviate. Thus, the absence of a crowing sound in whooping cough is an indication of approaching recovery.
Causes of secondary recurrence of Kawasaki disease
Kawasaki disease, also known as mucocutaneous lymph node syndrome, commonly affects children and infants under five years old. It is an acute, systemic vasculitic disease. Clinically, it is primarily characterized by persistent fever, bilateral conjunctival congestion, cracked lips, strawberry tongue, rash, hard swelling of hands and feet, fingertip desquamation, and enlargement of cervical lymph nodes. In severe cases, it can lead to coronary artery dilation, coronary artery aneurysms, and thrombotic obstruction. The exact cause of Kawasaki disease is not very clear, but it is mainly believed to be related to infections. The probability of secondary recurrence of Kawasaki disease is about 2%, and its causes mainly have to do with infections, immune factors of the body, genetic factors, and so on.
How to determine whether it is the paroxysmal stage or the recovery stage of pertussis?
After the incubation period, typical whooping cough goes through three clinical stages. The first stage is the catarrhal stage, also called the pre-paroxysmal stage, during which the infectivity is the strongest. If treated promptly during this stage, the progress of the disease can be controlled. If the catarrhal stage is not effectively controlled, it then enters the paroxysmal stage. During the paroxysmal stage, the patient will experience episodic spasmodic coughing, with more severe episodes at night. During spasms, there will be neck vein distension, swollen and congested eyelids and face, and cyanosis of the lips. This stage can last up to two months. After the paroxysmal stage follows the convalescent stage, where the episodic spasmodic coughing gradually decreases and becomes less severe.
Can an umbilical hernia be treated with a belly button patch?
Umbilical hernia refers to the protrusion of abdominal contents through the umbilical ring, commonly seen in infants and young children. Most of these hernias are reducible and incarceration is rare. The majority of umbilical hernias can heal on their own within the first year through gradual contraction of the umbilical fascial ring. Therefore, unless incarceration occurs, non-surgical treatment aimed at promoting healing, such as the use of umbilical patches and hernia belts, can be adopted before the age of two. However, since infants and young children have delicate skin, it is important to monitor for any skin allergies. If the child is older than two years and the diameter of the umbilical hernia exceeds 1.5 cm, surgical treatment should be considered.
Does phenylketonuria require a lifetime of special milk consumption?
Phenylketonuria does not require a lifetime of special milk consumption. It is the first genetically inherited metabolic disorder that can be treated through dietary control. Once diagnosed with phenylketonuria, one must stop a natural diet and begin treatment with a low-phenylalanine diet. The low-phenylalanine milk formula should be consumed at least until the age of 12. When the concentration of phenylalanine in the blood is controlled within the ideal range, it is possible to appropriately add a small amount of natural diet, adhering to principles of low protein and low phenylalanine.
The difference between rickets and dwarfism.
Rickets is caused by a deficiency of vitamin D in infants and young children, leading to disturbances in calcium and phosphorus metabolism and resulting in skeletal abnormalities as a characteristic of this chronic nutritional disease. Typical symptoms can include changes in the bones, especially in the fastest growing parts of the skeleton, and can affect muscle development and changes in neural excitability. Symptoms such as a "ping pong ball" head, square skull, pigeon chest, funnel chest, and eversion of the rib margins are also observed. Diagnosis is made through examinations such as vitamin D levels and skeletal X-rays. Dwarfism, on the other hand, is a growth disorder caused by a deficiency of growth hormone from the anterior pituitary gland before puberty. Its clinical manifestations are primarily growth disturbances, characterized by a short, proportionate stature. Adults with this condition often retain a child-like appearance, and their bone development is delayed with bone age younger than their chronological age. Intellect corresponds to their age, and sexual development may also be disrupted.