Key Warning Signs Of Nephronophthisis

Situs Inversus

Situs inversus can be a symptom that occurs in individuals affected by nephronophthisis. Situs inversus is an anatomical abnormality where the internal organs in an individual are a mirror image of the normal anatomy. This abnormality means there is a full transposition of the internal organs with normal front to back symmetry. Nephronophthisis does not cause situs inversus, but they are both caused by mutations in some of the same genes. Mutations that occur the NPHP2 and INVS gene of chromosome 9q31, NPHP3 gene of chromosome 3q22, NPHP14 and ZNF423 gene of chromosome 16q12, or the NPHP16 and ANKS6 genes of chromosome 9q22 can cause an affected individual to have both situs inversus and nephronophthisis. Most cases involving situs inversus are the infantile variation of nephronophthisis where an individual is born with both conditions. Situs inversus associated with nephronophthisis is caused by a primary cilia dysfunction or primary ciliary dyskinesia that materializes during the patient's embryonic development.