Is Nephronophthisis a Ciliopathy?

Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that constitutes the most frequent genetic cause for end-stage kidney disease (ESKD) in the first 3 decades of life1–4.

What is a Ciliopathy?

Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia.

What causes Nephronophthisis?

Nephronophthisis (NPHP) is a clinical condition caused by a group of autosomal recessive cystic kidney disorders that typically progresses to end-stage kidney disease (ESKD).

What are the symptoms of Nephronophthisis?

Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function . These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue).

What causes ciliopathy?

Ciliopathies may be framed as a genetically heterogeneous group of disorders that are caused by mutations in genes with products that localize to the cilium–centrosome complex. The phenotypes due to the altered proteins vary from cystic kidney disease and blindness to neurologic phenotypes, obesity, and diabetes.

What does Nephronophthisis do?

What are renal ciliopathies and what causes them?

Many of these mutations manifest as renal ciliopathies, characterized by kidney dysfunction resulting from aberrant cilia or ciliary functions. This group of overlapping and genetically heterogeneous diseases includes polycystic kidney disease, nephronophthisis, and Bardet-Biedl syndrome as the main focus of this review.

What is NPHP (nephronophthisis)?

Nephronophthisis (NPHP), a recessive cystic kidney disease, is the most frequent genetic cause of end-stage kidney disease in children and young adults.

What are the systemic manifestations of ciliopathies?

Systemic manifestations of the ciliopathies While disease manifestation in any organ can occur in the context of ciliopathic dysfunction, the predominant organs affected include the kidney, eye, liver and brain. In the ensuing text, we will outline the range of diseases that can occur as each of these organs in the context of ciliary dysfunction.

Is dysplastic kidney a ciliopathy?

While cystic renal disease has historically been described as a cardinal feature of a ciliopathic disorder, other renal malformations such as dysplastic kidneys are often an under-recognised feature. Renal dysplasia occurs as a result of defective differentiation of the renal parenchyma during kidney development [107].