After the 72nd hour (average 5th day) from birth of the baby who is well fed with breast milk, blood is taken from the heel on Gutrie paper for 4 different diseases. Especially the purpose of removing it from the heel is to make the baby hurt less.
These 4 diseases are Phenylketonuria, Hypothyroidism, Cystic Fibrosis, Biotidinase enzyme deficiency.
All these diseases can be prevented with early diagnosis and cause mental retardation. With early diagnosis and treatment, deterioration of the neurological development of babies in the following months/ages is prevented. Therefore, if heel blood is not taken, these diseases will not be screened. If such a disease occurs, once the diagnosis is made, irreversible mental retardation and other neurological findings will occur.
*** HEEL BLOOD MUST BE TAKEN***
Phenylketonuria is a disease that can be passed on from family. Accumulation of Phenylalanine in the body due to enzyme deficiency destroys the brain. Mental retardation and symptoms affecting the nervous system occur. Symptoms generally begin in the 4th month. After the 5th - 6th months, there is significant mental retardation in childhood, and skills such as sitting, walking and speaking cannot develop. Head circumference remains small. In addition, vomiting, excessive hand, arm and head movements, epileptic seizures, skin rashes, and musty smell of urine and sweat are important symptoms of the disease. 60% of these children have lighter eye, eyebrow and skin color. Phenylketonuria is a treatable disease when diagnosed early. For dietary treatment, special and medicinal foods with very reduced phenylalanine must be used. Treatment should continue for the first 8-10 years, when brain tissue develops most rapidly.
Biotinidase deficiency,Biotinidase is an enzyme that plays a role in the metabolism of the vitamin called biotin. This enzyme plays an important role in protein, glucose and fat metabolism. Biotinidase deficiency is common in our country. Muscle weakness, seizures, eczema-like skin rashes, hair loss, respiratory problems, eye infection, candidiasis, unsteady walking, developmental delay, hearing loss, and vision problems develop. Delay in diagnosis and treatment can result in neurological damage, many other problems, and death. For this reason, babies are screened within the scope of the screening program in our country. After diagnosis, treatment is easy and It consists of oral administration of the vitamin called otin. This treatment should continue for life. While all symptoms regress after treatment, developmental delay, optic atrophy and hearing loss, if developed, generally do not improve with treatment.
Cystic fibrosis is a genetic disease. It occurs due to the lack of sufficient amounts of a protein responsible for water and electrolyte passage in all glands in the body. As a result, the secretions in the glands (sweat glands, airways, bile ducts, etc.) are thick and plugs form. These patients cannot adequately digest the food they consume due to enzyme deficiency, and in these patients, large amounts of oily, foul-smelling stools occur and growth and development retardation occurs. They get pneumonia very often and have severe pneumonia. Approximately 10% of patients with Cystic Fibrosis have a delay in defecation at birth. Cystic fibrosis is a disease that should be considered and investigated in children who cannot gain enough weight and have more frequent and severe respiratory infections than other children. Cystic fibrosis should be considered in the differential diagnosis, especially in children with consanguineous marriages between parents and a history of sibling death. The sweat of these patients is more salty. 'Sweat is salty when you kiss'. Sweat test is the gold standard in diagnosing the disease. Respiratory physiotherapy should be applied to clear dark sticky secretions from the airways. Early and effective treatment of infections is important. Good nutrition is very important. It is necessary to take necessary vitamin supplements (ADEK vitamins), especially due to enzyme deficiency.
4. Hypothyroidism, Congenital hypothyroidism in newborns It is the most common endocrinological problem during the period. Hypothyroidism means thyroid hormone deficiency. Thyroid hormone deficiency causes mental development disorders in newborns and infants and growth retardation in childhood. Mental developmental disorders caused by thyroid hormone deficiency in the newborn and early infancy are permanent. It cannot be reversed with thyroid hormone treatment in later years. A loss of intelligence quotient is observed with each week the diagnosis is delayed. wife in the neonatal period Symptoms such as swelling, umbilical hernia, prolonged jaundice, constipation, inability to regulate the body's temperature, skin color change, coarse facial appearance, enlarged tongue, and harsh crying may be observed. However, findings are seen in less than 10% of babies with congenital hypothyroidism. That's why screening is important. The purpose of screening is to early identify babies with suspected hypothyroidism. If there is a slight suspicion based on the test results, TSH measurement is repeated by taking heel blood again. If the suspicion is confirmed for the second time, an intravenous blood sample is measured and the diagnosis of hypothyroidism is confirmed. The aim of screening is to diagnose and begin treatment of babies with hypothyroidism in the first month or even the first three weeks of life. It is known that early diagnosis and adequate treatment positively affect the mental development coefficient.
Read: 0
