Hung little brother just born to accept the newborn blood screening, by the National Taiwan University College of the preliminary examination to determine Hung boy suspected of suffering from "acid Hyperlipemia melon", in order to further confirm the disease, Hung Hung father and mother with a flood younger brother to the Kaohsiung Medical University to accept a more detailed blood test, but blood is not a smooth process, so that Hong mother was very distressed.
Now attending kindergartens, Hung boy, there is no associated symptoms, very healthy and lively. But because of some "acid Hyperlipemia melon" at an early age of the patients with less obvious symptoms, in order to flood the health of younger brother, the doctor still recommends that Hung boy continued to receive follow-up treatment, if the future has symptoms can also be timely grasp of the situation, not delay treatment.
Understanding of "acid Hyperlipemia melon"
Melon acid hyperlipidemia are a urea cycle disorder, it has been speculated that the incidence is approximately 1 / 14000, but according to neonatal screening center at National Taiwan University, five years experience, the actual incidence rate of 1 / 54852. Probability of the disease and no gender difference. Melon Hyperlipemia acid can be divided into two types, variable age of onset, most commonly for the neonatal period. Whether it is the first melon acid hyperlipidemia or type II, are autosomal recessive genetic disease, both parents are asymptomatic carrier, and each birth, a 1 / 4 chance of giving birth to children, Has 1 / 2 chance of giving birth to carrier, has 1 / 4 chance of giving birth to normal children. Melon Hyperlipemia acid at the ninth gene on chromosome long arm, has found at least 20 point mutations.
A. de acid type hyperlipidemia
The causes of this type are in vivo urea cycle succinate spermine synthesis gene mutation, the dysfunction, the patient can not be ammonia metabolism and lead to high blood ammonia disease, age of onset is usually very different, so far still can not predict patients at When the disease. If the patients have onset in the neonatal period, it will result in poor feeding, vomiting, drowsiness, irritability, anxiety and shortness of breath and other symptoms, their condition will rapidly change, and the more serious neurological problem. If it has not received proper treatment, patients with complications or even death. If the patients only at early childhood onset, compared to the early onset patients, symptoms are usually relatively minor, but the time of diagnosis is usually already apparent brain lesions.
B. de acid type II hyperlipidemia
Attack can be divided into the neonatal period and adult onset type, this type of lemon for the in vivo protein function caused by the lack of.
a. neonatal onset type
At one to five months after the birth of, the patient will happen cholestasis type jaundice, liver dysfunction, resulting in a wide range of high amino acid levels, galactosemia and other cases with fatty liver. Would result in severe neonatal growth retardation, anemia or abnormal bleeding is more than, hypoglycemia, hepatomegaly, or liver failure. Symptoms in most patients at one to two years of age will gradually ease, but is still unknown whether these patients will turn into adult onset type, need to know long-term fixed-seizure patients and early treatment changes. Treatment need to add fat-soluble vitamins and as much as possible to maintain high protein high fat diet.
b. adult onset type
Usually seen in the 20-50 years old, patients over and over again because of high ammonia and the emergence of consciousness, bizarre behavior, memory loss or other psychiatric symptoms, and may even or death. Patients may be at the same time have other liver problem.
No matter what type of patients, when symptoms usually first measurement of blood ammonia concentration, and then measuring the concentration of blood amino acids, especially the melon and other related amino acid, and check the liver function. Finally can also refer to the serum amino acid and urine organic acid analysis. For the first type melon acid in patients with hyperlipidemia, take measurements to confirm the diagnosis succinate spermine synthesis? Activity can be used to liver cells or skin fibroblasts to examine. As for the second type melon acid in patients with hyperlipidemia, the current can make use of genetic testing to confirm the diagnosis, some patients have point mutation can be found.
Melon acid target for the treatment of hyperlipidemia amendment biochemical imbalance and nutritional needs to maintain in principle to low-protein diet, reduce ammonia-based medicine with a special formula. At high ammonia period, the patient must be immediately restricted protein diet to strengthen the non-protein energy sources, to avoid compensatory disorders. More serious, hemodialysis is another fast way to remove ammonia.
A. low-protein diet
Patients must be in accordance with age and disease severity to adjust the protein intake, so each patient's protein requirement varies.
Age of protein recommended intake (g / kg / day)
Within six months after the birth of ≧ 1.5
Preschool period of 1.2 ~ 1.5
School-age 1.0
Adolescent ≦ 0.5
B. lowering drugs ammonia
Melon acid in patients with hyperlipidemia may, by a drug to get rid of the waste ammonia.
a. benzoin sodium salt
Combined with glycine to form hippuric acid after the liquid material discharged by the urine.
Recommended intravenous dose of 250 mg / kg / day; oral 375 mg / kg / day, taking three to four times a day, and with low-protein diet. But the drug may lead to patients have nausea, vomiting, tinnitus, or side effects such as visual impairment.
b. Benzene butyric acid sodium salt
In the liver will be oxidized to benzene acetic acid, and glutamate can be combined with urine discharged by the Express. The recommended dosage of 0.5 mg / kg / day.
c. arginine
Borrow after arginine, decomposed into urea and ornithine. If patients in stable condition, oral recommended dosage is 400 ~ 700 mg / kg / day; but in the case of high blood ammonia, then given 600 mg / kg / day.
C. special milk
Prognosis of patients and age and the condition relating to the time of diagnosis. During the neonatal period will attack patients, the prognosis is poor after the pass, and most patients have some obvious complications with the necessary long-term treatment with physicians and dietitians, periodic biochemical examination, recording of height and weight development in order to patients continued to master the situation.
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