Diffuse familial adenomatous intestinal polyposis in childhood: current state of the problem and case report.

OBJECTIVE: Aim: To explore the prevalence, clinical characteristics, and diagnostic aspects of diffuse familial adenomatous polyposis in childhood. This objective is accomplished through an extensive review of recent literature, and the presentation of case report from our clinical practice. PATIENTS AND METHODS: Materials and Methods: We analyzed 75 scientific papers, the findings of which have been documented in the PubMed database. Our search criteria included keywords such as ≪diffuse familial adenomatous intestinal polyposis,≫ ≪children,≫ and ≪diagnosis.≫ Then we conducted a second-stage analysis that involved a detailed review of a practical case - the medical records of inpatient Kh.V. who had been diagnosed with familial adenomatous polyposis. CONCLUSION: Conclusions: The analysis of the literature data is consistent with the findings from our clinical observations of familial adenomatous polyposis in a patient with complicated family anamnesis. It is worth noting that clinical features do not significantly differ across various types of polyposis. In cases of suspected familial adenomatous polyposis in adolescents, genetic testing is crucial.

CHARACTERISTICS OF CERTAIN INDICES OF MINERAL METABOLISM IN CHILDREN WITH KIDNEY CALCULI.

OBJECTIVE: The aim: To study the violations of bone density indices in patients with kidney calculi. PATIENTS AND METHODS: Materials and methods: 175 children with different types of kidney calculi were examined and treated in Ivano-Frankivsk Regional Children's Consultative Polyclinics and Hospital, from 2016 to 2019 inclusively. Comprehensive metabolic panel involved by means of generally accepted biochemical methods. Sonography of the urinary tract was carried out. Voiding cystourethrography and excretory urography were performed. Bone mineral density was evaluated by means of ultrasonic densitometry. Statistical processing of the obtained data was carried out according to standard methods of variation statistics. RESULTS: Results: In patients with kidney calculi, oxaluria and oxalate-calcium nephropathy (60.0% and 30.0%, p <0.05) occurred most frequently. Signs of syndrome of undifferentiated connective tissue dysplasia - postural malformation (50.0%), thoracic kyphosis (25.0%), and stigmas of dysembryogenesis (25.0%) were noticed. In the majority of children with oxalate-calcium nephropathy, levels of the bone alkaline and acid phosphatase isoenzymes in a blood serum were significantly high, indicating severity of the resorption and disorders in development of the bone tissue. In these children, decreased fraction of ionized calcium, hypomagniemia and hypophosphatemia were observed. CONCLUSION: Conclusions: Children with oxalate-calcium nephropathy are in group of risk for osteopenic syndrome.