Nephronophthisis , NPH (skrót)

The kidney disease nephronophthisis is in the classification of this disorder.

There are at least four types of nephronophthisis.

Infantile, juvenile, and adolescent forms of nephronophthisis have been identified.

Mutations in this gene are also associated with nephronophthisis.

The first group, termed nephronophthisis, is characterized by an autosomal recessive inheritance.

The kidneys in these mice show progressive kidney atrophy and display symptoms similar to human nephronophthisis.

Thus, Nephronophthisis is a ciliopathy.

It is a rare, ciliopathic, autosomal recessive disorder characterized by nephronophthisis and progressive eye disease.

Histologically, nephronophthisis is characterized by fibrosis and the formation of cysts in a specific region of the kidney.

From sequencing the DNA of individuals and families with nephronophthisis, scientists have identified thus far 8 different genes in which mutations can cause the disease.

In addition, about 15 percent of people with nephronophthisis also experience visual impairment caused by degeneration of the retina of the eyes (renal-retinal dysplasia).

This disorder is characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.

In contrast to other cystic diseases of the kidney in which the kidneys are larger than usual, in nephronophthisis the kidneys are small to normal in size.

Defects in this gene are a cause of Meckel syndrome type 3 (MKS3), nephronophthisis and Joubert syndrome type 6 (JBTS6).

Other known ciliopathies include primary ciliary dyskinesia, polycystic kidney and liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.

Mutations in this gene have been associated with Joubert syndrome and nephronophthisis, and recently with a frequent form of Leber's Congenital Amaurosis, called LCA10.

Genetic mutations compromising the proper functioning of cilia, ciliopathies, can cause chronic disorders such as primary ciliary dyskinesia (PCD), nephronophthisis or Senior-Loken syndrome.

Approximately 10% of individuals with nephronophthisis also have so-called "extra-renal symptoms" which can include blindness, liver problems, severe global developmental delay or mental retardation, and neurologic involvement in which the cerebellum is affected.

Some research has shown that mutations in ciliary proteins can lead to other developmental and adult phenotypes such as nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome.

For example, in just a single area of human disease physiology, cystic renal disease, cilia-related genes and proteins have been identified to have causal effect in polycystic kidney disease, nephronophthisis, Senior-Loken syndrome type 5, orofaciodigital syndrome type 1 and Bardet-Biedl syndrome.