Clinical features of juvenile nephronophthisis in an adolescent girl
- Urology & Nephrology Open Access Journal
-
Zaikova NM,1,2 Magon VA1
PDF Full Text
Abstract
Nephronophthisis type 1 (juvenile) OMIM 256100 is a rare ciliopathy with autosomal recessive inheritance that is the most common genetic cause of end-stage renal failure in children and young adults. The development of this pathology is based on a mutation in the NPHP1 gene (homozygous or compound heterozygous mutations), which is responsible for the structure and functioning of the nephrocystin-1 protein in the primary cilium. The average age of onset of end-stage renal disease (ESRD) in the juvenile form of nephronophthisis is 13 years. The first clinical symptoms of the disease, such as polyuria and polydipsia, are rarely noticed by adolescents and their parents, which lead to late diagnosis of the disease at the stage of chronic renal failure. The article presents a clinical observation of a 14-year-old patient diagnosed with type 1 nephronophthisis, whose only complaints are polyuria and polydipsia. Our observations demonstrate the nonspecificity of the symptoms of the juvenile form of nephronophthisis, and early detection will help to make a timely diagnosis, begin nephroprotective therapy, and slow down the progression of renal failure.
Keywords
nephronophthisis, chronic renal failure, ciliopathy, nephrocystin, kidney cysts
