NPHP3
NPHP3: A Journey into the Complex World of Ciliary Disorders
Description
Nephronophthisis type 3 (NPHP3) is a rare genetic disorder that primarily affects the kidneys. It is characterized by the progressive degeneration and loss of nephrons, the functional units of the kidneys. NPHP3 is a ciliopathy, a condition caused by defects in cilia, cellular structures involved in a wide range of functions including fluid movement and sensory perception.
In NPHP3, the cilia in the kidneys are malformed or dysfunctional, impairing their ability to remove waste products from the body. This leads to a gradual build-up of toxins, causing damage and eventual kidney failure.
Associated Diseases
NPHP3 is often associated with other conditions, collectively known as the NPHP-related ciliopathy spectrum, which can include:
- Leber congenital amaurosis (LCA): A severe form of blindness affecting children
- Senior-Løken syndrome: A combination of LCA, kidney cysts, and hearing loss
- Joubert syndrome: A developmental disorder characterized by a distinctive facial appearance, breathing difficulties, and intellectual disability
Did you Know ?
NPHP3 is an extremely rare disorder, affecting approximately 1 in 100,000 individuals worldwide. However, it is the most common type of NPHP, accounting for up to 30% of cases.
