User:Mr. Ibrahem/Nephronophthisis

Nephronophthisis (NPHP) is a genetic disorder of the kidneys. There are three types infantile, juvenile, and adolescent. The infantile form begins before birth and presents with oligohydramnios sequence. The juvenile and adolescent forms presents in childhood with increased urination, delayed milestone, and low red blood cells. Kidney failure occurs before the age of 30.

It is due to mutations in the NPHP genes. It is inherited in an autosomal recessive fashion. Up to 20% of cases may present as part of another syndrome such as Joubert or Bardet-Biedl. It is classified as a ciliopathy. Diagnosis is based on on lab tests, urine tests, and ultrasound of the kidneys.

Treatment may include managing high blood pressure, electrolyte abnormalities, and low red blood cells. Growth hormone may be useful in certain cases. Kidney failure may be treated with dialysis or kidney transplant.

It effects between 1 in 50,000 newborns in Canada and Finland to 1 in a million in the United States. It is the most common genetic cause of kidney failure before the age of 30. Nephronophthisis was first described by Smith and Graham in 1945. The word itself means "wasting of the nephrons".