Aim. To show the variety and severity of the clinical symptoms of a rare hereditary disease — Вardet — Biedle syndrome — in a14-year-old girl. Materials and methods. We carried out a retrospective analysis of anamnestic data, the course of the disease, laboratory and instrumental data, as well as the therapy of a 14-year-old patient with Вardet-Вiedlе syndrome. Results. A 14-year-old patient with hereditary Вardet — Вiedlе syndrome (polydactyly, mental retardation, progressive obesity, pigment retinopathy) was found to have a congenital abnormality of kidney development — hypoplasia and dysplasia of the only right kidney complicated by chronic secondary pyelonephritis with the development of chronic kidney disease. Urine tests revealed leukocyturia, bacteriuria and proteinuria. The echo-signs of diffuse changes in the parenchyma of the right kidney were found during the ultrasound kidney examination. The left kidney was not determined. The conclusion of dynamic renal scintigraphy: the image of the left kidney is not reliably visualized (a sharp decrease in the function or absence of the kidney), the preserved filtration function and a moderate decrease in the excretory function of the right kidney. Intoxication syndrome, leukocyturia, bacteriuria and proteinuria were relieved against the background of antibacterial (Ceftriaxone) and symptomatic therapy. Conclusion. We have described a clinical case of the Вardet — Вiedlе syndrome with congenital kidney malformation (impaired function), but with the normal structure of the internal reproductive organs and sexual development. In the future, due to the development of chronic kidney disease, the patient should receive specialized nephrological care, as well as be observed by endocrinologist due to a high risk of developing type 2 diabetes mellitus.
Sphingomyelin and Medullary Sponge Kidney Disease: A Biological Link Identified by Omics Approach
