Medullary cystic kidney disease
Medullary Cystic Kidney Disease (pronunciation: meh-duh-luh-ree sis-tik kid-nee dih-zeez) is a medical condition that affects the kidneys. It is also known as nephronophthisis (pronunciation: nef-ruh-noh-fuh-thai-sis).
Etymology
The term "Medullary Cystic Kidney Disease" is derived from the Latin words 'medulla', meaning 'middle', 'cystic', meaning 'having the nature of a cyst', and 'kidney disease', referring to a condition that impairs kidney function. The term 'nephronophthisis' is derived from the Greek words 'nephros' (kidney) and 'phthisis' (wasting away).
Definition
Medullary Cystic Kidney Disease is a genetic disorder characterized by the growth of cysts in the medulla, the inner part of the kidney. These cysts lead to scarring and impaired kidney function, often resulting in kidney failure.
Symptoms
The symptoms of Medullary Cystic Kidney Disease include polyuria (excessive urination), polydipsia (excessive thirst), anemia, and progressive kidney failure.
Causes
Medullary Cystic Kidney Disease is caused by mutations in the genes responsible for the structure and function of the kidneys' tubules. It is usually inherited in an autosomal dominant manner, meaning one copy of the altered gene in each cell is sufficient to cause the disorder.
Treatment
There is currently no cure for Medullary Cystic Kidney Disease. Treatment focuses on managing symptoms and preventing complications, such as hypertension and kidney failure. This may include medications, dialysis, or kidney transplantation.
Related Terms
- Nephrology - the branch of medicine that deals with the kidneys.
- Renal cyst - a fluid-filled sac that forms in the kidney.
- Chronic kidney disease - a long-term condition where the kidneys do not work effectively.
External links
- Medical encyclopedia article on Medullary cystic kidney disease
- Wikipedia's article - Medullary cystic kidney disease
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