Nephronophthisis

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Nephronophthisis (pronounced: ne-fro-no-fthi-sis) is a term used in the field of medicine to describe a group of inherited kidney diseases. It is the most common genetic cause of end-stage kidney disease in children and young adults.

Etymology

The term "Nephronophthisis" is derived from the Greek words "nephros" meaning kidney, and "phthisis" meaning wasting or consumption, indicating the progressive nature of the disease.

Definition

Nephronophthisis is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These changes can lead to end-stage kidney disease, a life-threatening condition that prevents the kidneys from filtering fluids and waste products effectively.

Symptoms

Symptoms of Nephronophthisis include increased thirst and urination, fatigue, growth delay, and sometimes, eye abnormalities and liver fibrosis.

Diagnosis

Diagnosis of Nephronophthisis is often made through a combination of clinical findings, family history, and genetic testing. Imaging tests such as ultrasound or computed tomography (CT) scan may also be used.

Treatment

Treatment for Nephronophthisis is usually supportive, aiming to slow the progression of kidney disease and manage symptoms. This may include medications, dietary changes, and in severe cases, dialysis or kidney transplantation.

Related Terms

See Also

External links

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