RESUMEN

The influence of the blood group on the occurrence and severity of diseases has aroused the curiosity of scientists for many years. The AB0 group system is the best known and described blood group system. It is also the only system whose antibodies are constantly present in the blood serum. The most common blood type in Poland, according to data provided by Honorary blood donation and blood therapy, is group A Rh+ (plus), while the least common is group AB Rh- (minus). In studies of pregnant women scientists discovered the influence of blood type in the development of preeclampsia, gestational diabetes, the risk of preterm labor, and even COVID-19 infection. The impact of the mothers' blood group also affects the birth weight of newborns, as well as the development of hemolytic disease of the newborn due to the heterospecificity of AB0. The influence of the blood group on the increased risk of developing certain diseases and complications of the neonatal period has also been proven. Therefore, it seems important to study blood groups of pregnant women and newborns of different nationalities, correlate the results with available reports and use this knowledge in everyday clinical practice. This will help to increase the speed of detection of diseases in pregnancy and neonatal period. It will also facilitate the management of the patient depending on their blood group.

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RESUMEN

Congenital chloride diarrhea (CCD) is caused by a recessive mutation in the SLC26A3 gene and characterized mainly by watery diarrhea, hypochloremia and metabolic alkalosis. Various different mutations in SLC26A3 are responsible for the disease. In the prenatal period, the symptoms of CCD may include polyhydramnios, preterm labor and abdominal distension. The main feature of CCD is chloride-rich diarrhea, which leads to excessive loss of fluid and salt immediately after birth and is followed by weight loss and dehydration. Hyponatremia and hypochloremia are soon accompanied by hypokalemia and metabolic alkalosis. Untreated CCD is fatal even in the first weeks of life. Diagnosis is made by high fecal chloride concentrations in patients with serum electrolytes corrected by salt substitution and confirmed using genetic testing of peripheral blood samples. Here, we detail prenatal and postnatal manifestations of a preterm infant, born via Caesarian section, who was suspected to suffer intrauterine bowel obstruction. Upper median laparotomy was performed and no intestinal abnormalities found. The course of the neonatal period was complicated by severe diarrhea with hypochloremia, hyponatremia and metabolic alkalosis. Based on the patient's clinical picture and stool examination, a diagnosis of CCD was established. Mutation of the SLC26A3 gene was confirmed using genetic testing.

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