Nephronophthisis type 1 in an adolescent girl: peculiarities of diagnosis and course

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.