The article provides literature data and description of the clinical case of CHARGE syndrome with an autosomal – dominant type of inheritance in a child of 3 years and 7 months. The name of the syndrome is formed by the first letters of the characteristic congenital malformations: “C” (coloboma) – optic disc coloboma, “H” (heart defects) – cardiovascular abnormalities, “A” (atresia of choanae) – atresia or stenosis of choan, “R” (retardation of growth and development) – growth deficit, developmental delay, “G” (genital anomalies) – genital anomalies, “E” (ear abnormalities and sensorineural hearing loss) – hearing organ abnormalities. A feature of the clinical case is the early diagnosis of CHARGE syndrome, manifested by bilateral optic disc coloboma; unilateral paresis of the facial nerve; congenital heart disease (open aortic duct); retardation of growth, psychomotor and psycho-speech development; cryptorchidism; bilateral anomaly of the outer ear (short, wide, absence of the lobe and external curl), sensorineural hearing loss; bilateral renal hypopalasia, chronic kidney disease.

Molecular genetic research has led to the discovery of new genes encoding proteins – transporters, cotransporters and exchangers involved in the transport of sodium, potassium and chlorine in the thick ascending part of the Henle loop and in the distal convoluted tubule. The article presents modern literature data on the genetic types of tubulopathy with the leading syndrome of hypokalemia and alkalosis – Bartter and Gitelman syndromes in children. The clinical and genetic features of the six types of Bartter syndrome with autosomal recessive and X-linked inheritance, classification approaches, diagnosis, and modern treatment methods are described. Since the first description of Bartter syndrome, 6 clinical genetic options have been known, including antenatal I, II, IVa, IVb, V types, which are potentially life-threatening diseases. Bartter type III syndrome is characterized by the manifestation of hypokalemic alkalosis in children at an early and preschool age. Treatment of Bartter syndrome in children includes the correction of water – electrolyte disturbances, the use of non-steroidal anti-inflammatory drugs (NSAIDs) to inhibit the excessive formation of renal prostaglandin PgE 2. Gitelman syndrome with an autosomal recessive type of inheritance manifests itself in children at school age, later on in adolescents and adults there is an increase in clinical manifestations (with severe hypomagnesemic seizures of the upper and lower extremities, arterial hypertension) requiring correction. The review presents the clinical and genetic features of the rare, atypical form of the autosomal recessive Gitelman syndrome with a manifestation in school age, which is characterized by progressive bilateral calcifications of the subcortical parts of the cerebral hemispheres, calcifications in the basal ganglia and subcortical cerebellum. Unlike Bartter syndrome, with more severe clinical manifestations in newborns, infants and young children, Gitelman syndrome tends to increase clinical manifestations in adolescents and adults. Treatment of Gitelman syndrome in children and adolescents includes the correction of water – electrolyte disturbances, the use of magnesium preparations and salt subsidy.

Background and aims Meconium aspiration syndrome (MAS) is a rare and life-threatening neonatal lung injury induced by meconium in the lung and airways. Lung ultrasound (LUS) is a quick, easy and cheap imaging technique that is increasingly used in critical care settings. Specific LUS findings have been described for some types of neonatal lung injury, but no formal data exists on ultrasound imaging of MAS. We here describe ultrasound findings in MAS. Methods Five patients with MAS of variable severity were examined by LUS during the first hours of life, using either a microconvex 7,5 MHz, or a linear 12-18 MHz probe. Chest Xrays were used as reference. Results A range of unevenly distributed dynamic signs was observed in five neonates with MAS (LUS dynamic video recordings will be shown). The following signs were seen in all cases: 1) B-pattern (interstitial) coalescent or sparse; 2) consolidations; 3) atelectasis; 4) bronchograms. No pattern was observed for distribution of signs in lung areas. The signs in the same lung area varied with time, reflecting the changing auscultation patterns. In our opinion, this is due to the changing localisation of meconium and the displacement or dissolution of meconium plugs. LUS images corresponded well with X-ray findings. Conclusions We provide the first formal description of LUS findings in neonates with MAS. LUS seems to be a useful and promising tool in the diagnosis and management of MAS, providing real-time bedside imaging, with the additional potential benefit of limiting radiation exposure in sick neonates.