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Nephronophthisis type 1 in an adolescent girl: peculiarities of diagnosis and course
https://doi.org/10.21508/1027-4065-2025-70-1-82-87
Abstract
Nephronophthisis type 1, juvenile (OMIM 256100) is a rare ciliopathy with an autosomal recessive type of inheritance, which is the most common genetic cause of terminal chronic renal failure in children and young adults. The development of this pathology is caused by mutations in the NPHP1 gene (homozygous or compound heterozygous), responsible for the structure and function of the nephrocystin-1 protein in the primary cilium. The average age of onset of end-stage kidney disease in the juvenile form of nephronophthisis is 13 years. Patients with nephronophthisis rarely pay attention to the first characteristic clinical manifestations of the disease, such as polyuria and polydipsia, hyposthenuria, anemia, which leads to late diagnosis of the disease at the stage of chronic renal failure. The article presents a clinical observation of a 14-year-old female patient with manifestation of nephronophthisis type 1 with polyuria and polydipsia, hyposthenuria. Our observation demonstrates the initial manifestations and progression of chronic kidney disease (chronic kidney disease stage 3B) in a 14-year-old proband with juvenile nephronophthisis type 1 due to a mutation in the NPHP1 gene.
About the Authors
N. M. Zaikova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University; Institute of Continuing Education and Professional Development Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
V. A. Magon
Institute of Continuing Education and Professional Development Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
M. P. Safonova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
L. S. Baleva
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
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Review
For citations:
Zaikova N.M., Magon V.A., Safonova M.P., Baleva L.S. Nephronophthisis type 1 in an adolescent girl: peculiarities of diagnosis and course. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2025;70(1):82-87. (In Russ.) https://doi.org/10.21508/1027-4065-2025-70-1-82-87
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