Два випадки захворювання дітей на муковісцидоз у сім'ї

Abstract

У статті наведено випадок захворювання на муковісцидоз двох дітей в одній сім'ї. Даний випадок є показовим щодо необхідності планування вагітності, а також генетичного скринінгу батьків з метою попередження народження хворої дитини; В статье приведен случай заболевания муковисцидозом двоих детей в одной семье. Данный случай иллюстрирует необходимость планирования беременности, а также генетического скрининга родителей с целью предупреждения рождения больного ребенка; The reason for writing this article was the birth of the second child in the family with the diagnosis: Cystic fibrosis with pancreatic insufficiency, edema, anemic syndrome, severe course. Delay in physical and genderkinetic development due to metabolic encephalopathy. Open oval window. Minor congenital heart defect. The first child in the family had cystic fibrosis with pancreatic insufficiency, edema, anemic syndrome, severe course (from the second pregnancy), died at age of 3 years. The I and III pregnancies ended in the birth of two healthy girls. After the birth of the first child with cystic fibrosis, the parents underwent genetic testing. Major mutation in the gene SFTR deletion of exon 10 F-508It was found. Unfortunately, this pregnancy proceeded without mother's planning of birth. Examinations during pregnancy were not conducted. We present our own clinical observation of the second child in the family with cystic fibrosis with pancreatic insufficiency, edema, anemic syndrome, severe course. The boy Z., aged 3 months 7 days was transferred from Kremenchuk City Children's Hospital with the diagnosis: Protein-energy malnutrition of 2nd degree. Intrauterine infection? Deficiency anemia of II degree. Open oval window. Reconvalescent of rightfocal confluent pneumonia. From case history we know that the child born to IV pregnancy proceeded against the backdrop of gestosis of 1st trimester, in the family of mutant genes carriers. Childbirth IV, in term of 36 weeks, natural, in the main presentation, weighing 2390 g. From the moment of birth the mother notices frequent regurgitation, which intensified after 2 months of life. Weight gain is not sufficient. The infant was treated at Kremenchuk City Children's hospital for 2 weeks, after which he was transferred to the department of premature infants and pathology at Children's City Clinical Hospital of Poltava. The general condition of the infant when transferred to the department was severe due to swelling and anemia syndrome. The infant was examined by doctors: Genetics: Cystic fibrosis syndrome. Swelling and anemic syndrome. Neurologist: Delay in physical and gender-kinetic development due to metabolic encephalopathy. Cardiologist: Secondary cardiomyopathy. Open oval window. The examination in coroutine revealed a lot of neutral fat; fatty acids were not found; soap — not much; mucus — rarely. Sweat chlorides — 86 mmol/l. As a result of therapy the infant's condition improved. The infant is on free breastfed, sucks actively, does not regurgitate, gains weight. Active. Stool is digested, yellow-green, diuresis is sufficient. At the age of 4 months, the infant was discharged from the office in satisfactory condition and was under supervision of pediatrician from Primary care center with the diagnosis: Cystic fibrosis with pancreatic insufficiency, edema, anemic syndrome, severe course. Delay in physical and gender-kinetic development due to metabolic encephalopathy. Open oval window. Minor congenital heart defect. This case is representative in regard to the need for planning pregnancy to prevent the birth of a sick child.