A case of non-invasive diagnostics of nephronophthisis in a child
https://doi.org/10.51922/1818-426X.2022.4.121
Abstract
Nephronophthisis is an autosomal recessive cystic kidney disease, which is the most common among cystic kidney diseases of genetic origin the cause of end-stage chronic renal failure and death before the age of thirty years. The article widely presents an interesting clinical case of non-invasive diagnosis of nephronophthisis in a fifteen-year-old child. The diagnosis based on anamnesis, clinical data, and results of laboratory, instrumental and molecular-genetic methods of examination. Ultrasound revealed diffuse changes in the parenchyma, cysts of both kidneys, a decrease in the intensity of blood flow in the parenchyma of both kidneys. The main method that made it possible to confirm NF was molecular genetic, which is less invasive compared to kidney tissue biopsy, which is preferable for pediatric patients.
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Review
For citations:
Kаzyrа I.A. A case of non-invasive diagnostics of nephronophthisis in a child. Medical Journal. 2022;(4):121-125. (In Russ.) https://doi.org/10.51922/1818-426X.2022.4.121
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