Diagnosis of congenital diseases
Children And Health / / August 12, 2017
goal of any screening or early diagnosis - as far as possible, the earlier detection of diseases, thus ensuring the timely start of treatment in order to facilitate the health of patients and reduce their mortality.Screening promotes early diagnosis, but, at the same time, not all methods provide unequivocal benefit.In this article we will try to consider the early diagnosis of congenital diseases in newborns.
purpose of diagnosis of congenital diseases in newborns is the identification of genetic and metabolic disorders, before the critical time before symptoms develop, even when the right and important for their prevention measures can be taken.Most of these diseases are very rare, but they are treatable if detected in time.
Some States regulate newborn screening, so the diseases that are detected by screening, vary considerably.
When the fullest examination verified 40 violations.All States that are carried out screening tests for newborns, hold them, including such diseases as: congenital hypothy
For diagnosis using a simple blood test, so screening tests for newborns do not need training.The child may cry when the doctor pierces his heel to obtain a small blood sample.Studies have shown that babies are much less likely to suffer when their mothers hold them close to him, hug or feed them during breast procedures.Swaddling the baby or the nipple soaked in sugar water can also help reduce pain.Hearing tests should not cause a child's sense of pain, screaming or crying.
Diagnosis is made when the child - from 24 hours to 7 days, that is, as a rule, before the mother with the baby sent home from the hospital.
Screening tests do not diagnose disease.They determine which children need additional testing to confirm or exclude certain disease.If further tests confirm that the child has the disease, the appropriate treatment can be started right away, before symptoms appear.
screening test used to detect a number of disorders, including amino acid metabolic disorders, like:
- argininyantarnaya acidemia (metabolic disorders of the urea cycle) - an inherited disorder caused by a defect argininsuktsinatliazy, manifested a high level of ammonium ions in the blood;
- tsitrullinemiya (or tsitrullinuriya) - congenital deficiency of one of the enzymes for the chemical cleavage of proteins in the urine, resulting in the blood accumulate ammonia and amino acid citrulline.Sick children develop poorly, and they pronounced mental retardation.
- homocystinuria (disorder of metabolism of methionine) - is characterized by mental retardation, the release of homocysteine in the urine, ectopia of the lens, as well as rare blond hair, knees splayed outward, anemia, convulsive reactions, thromboembolism, and fatty liver.There are several hereditary forms of the disease;
- maple syrup urine disease (or valinoleytsinuriya, maple syrup urine disease) - a hereditary disease, fermentopathy, a congenital defect in metabolism of amino acids leucine, valine and isoleucine.Manifested with 3-5-day life convulsions, respiratory distress, vomiting, cyanosis, and the smell of urine, resembling the smell of maple syrup sugar;subsequently observed a delay of mental and physical development, and persistent neurological disorders.The disease is difficult and often ends lethally.
- phenylketonuria (PKU);
- tyrosinemia (deficit fumarilatsetoatsetatgidroksilazy activity) - a disease associated with a mutation of the gene, which leads to disruption of the metabolism of tyrosine to damage the liver, kidneys and peripheral nerves.The first affected organ - the liver, which in the first months of life is given the manifestation of hepatic dysfunction with possible outcome in cirrhosis or liver cancer.Some patients develop nephrocalcinosis and renal failure.The increase in serum levels of tyrosine and methionine causes "cabbage" smell in patients;
- deficiency or biotinidase deficiency (biotinidase - biotin-binding protein in blood plasma, releasing bound biotin that comes from food).Biotinidase deficiency - an inherited metabolic disease group of organic aciduria with an autosomal recessive mode of inheritance.This disease is caused by mutations in the gene that encodes the enzyme biotinidase.This leads to disruption of biotinzavisimyh carboxylase);
- congenital adrenal hyperplasia (congenital adrenal hyperplasia) - a group of inherited disorders in which impaired production of cortisol by the adrenal glands.It occurs very rarely.
- congenital hypothyroidism;
- cystic fibrosis (or cystic fibrosis) - hereditary systemic disease associated with a mutation of the gene for cystic fibrosis transmembrane regulator.It is characterized by severely impaired function of the respiratory and gastrointestinal tract, as well as the defeat of the exocrine glands.
- Human Immunodeficiency Virus.
- Organic acid metabolism disorders. Violation of fatty acid metabolism - conditions associated with the violation of the body's ability to convert fat into energy, which can lead to increased weakness, convulsions and disorders of the heart and respiration.Violations exchange organic acids - children from the blood are not displayed, some waste products, which can lead to vomiting, low blood sugar, coma and death.
- 3-hydroxy-3-methylglutaric aciduria (or organic acidemia, organic aciduria) - is a group of diseases with organic acids neaminnyh excretion in urine.Most often it is the result of anomalies or violations of specific transformations in the amino acid catabolism.The main reason - a defect of the enzyme activity.In newborns appears at birth or within the first few days of life: there are vomiting, malnutrition, and neurological symptoms - an abnormal tone, seizures, lethargy, turning into a coma.As a result, the diagnosis usually placed in the first ten days of life.
- deficiency of beta-ketotiolazy - a rare, autosomal recessive metabolic disorder in which the body can not properly metabolize the amino acid isoleucine or products of lipid breakdown.Usually it appears between the ages of 6 th and 24 th months.Signs and symptoms of dehydration, vomiting, difficulty breathing, fatigue, and sometimes seizures.It ketoatsidoticheskaya attacks, which can sometimes lead to coma.Seizures come by increasing the concentration of organic acids produced as the amino acid metabolism and breakdown products of fats, up to the toxic levels.These attacks are often caused by starvation, infection, or sometimes with other types of stress.
- glutaric acidemia - neurometabolic rare autosomal recessive disorder usually develops in the 1st year of life.
- isovaleric acidemia. disease with symptoms such as acidosis, the smell of cheese in body fluids and exhaled air sick, vomiting, coma, which can occur when excessive protein intake, or as a consequence of additional infection.
- methylmalonic acidemia - congenital hereditary disease caused by a violation of the synthesis adenosylcobalamin i.metilkobalamina manifested from the first days of life.Newborns often dehydration, vomiting, found general lethargy, hypotonia, underweight, the liver increases.
- Multiple carboxylase deficiency - a form of metabolic disorders, which is caused by the failure of the process of carboxylation enzymes.Diagnosis of the disease requires complicated techniques.You can at early detection of the disease to prevent the disability of children.
- propionic acidemia - is a rare metabolic disorder associated with a deficiency of the enzyme, which is involved in the separation of proteins and amino acids.Genetic disease, inherited from both parents, as a rule, are only carriers of defective genes that cause the onset and progression of the disease.
- sickle cell anemia - a hereditary hemoglobinopathies associated with the violation of the structure of the hemoglobin protein, in which it acquires a special crystalline structure - hemoglobin S. Signs of sickle-cell anemia occur in early childhood.Its complications - thrombosis bowel vessels and pigment stones in the biliary tract.
- Anemia: Causes, symptoms, treatment, prevention
- Cystic fibrosis: dietary recommendations
- Inborn errors of metabolism
- Therapeutic exercise and tempering children
- toxoplasmosis - a parasitic disease of humans and animals caused by Toxoplasma Toxoplasma gondii.The source of infection - different kinds of wild and domestic mammals.Human infection occurs in the use of eggs and meat products that have not undergone heat treatment is normal.Also, infection is possible in contact with the pathogen at the damaged skin and mucous membranes, intrauterine infection, etc.Factors contributing to the appearance of the body of the parasite and increases the risk of toxoplasmosis: contact with infected by this parasite animals, use in the home is not mytyh after cleaning cat litter or any other hand contact with cat feces, eating raw or not fully cooked meat, especially pork, lamb or venison, organ transplant or blood transfusion, contact with raw or undercooked meat and neprozharennoe, the presence of toxoplasmosis parents.Toxoplasmosis among infectious diseases caused by protozoa, - one of the most common and most dangerous for expectant mothers.He can proceed unnoticed and cause unpleasant complications during pregnancy, and severe visual impairment or seizures.
Normal values for each screening test may vary depending on how the test is performed.
Note: normal value ranges may vary slightly depending on the various laboratories.Worth to talk to your doctor about the meaning of the specific test results.
abnormal result means that the child must undergo additional testing to confirm or eliminate symptoms.
Risks and Complications Risks
puncture newborn baby in the heel for the taking of a blood sample include pain and possible bruising at the site where the blood was taken.
Newborn Testing is crucial for the child.They contribute to the production of correct and accurate treatment that could save his life.However, you need to know that today not all disorders that can be detected by screening tests, are treated.
Although the country does not fulfill all screening tests, parents may receive additional testing on good laboratory large medical centers.Private laboratories also offer screenings of newborns.Parents can learn more about newborn screening tests from their doctors or a hospital (maternity hospital), where the child was born.