Medullary cystic kidney disease
Encyclopedia
Medullary cystic kidney disease is an autosomal dominant kidney
disorder characterized by cyst
s in both kidneys and tubulointerstitial sclerosis leading to end-stage renal disease. The kidney disease nephronophthisis
is in the classification of this disorder.
Kidney
The kidneys, organs with several functions, serve essential regulatory roles in most animals, including vertebrates and some invertebrates. They are essential in the urinary system and also serve homeostatic functions such as the regulation of electrolytes, maintenance of acid–base balance, and...
disorder characterized by cyst
Cyst
A cyst is a closed sac, having a distinct membrane and division on the nearby tissue. It may contain air, fluids, or semi-solid material. A collection of pus is called an abscess, not a cyst. Once formed, a cyst could go away on its own or may have to be removed through surgery.- Locations :* Acne...
s in both kidneys and tubulointerstitial sclerosis leading to end-stage renal disease. The kidney disease nephronophthisis
Nephronophthisis
Nephronophthisis is a genetic disorder of the kidneys which affects children. It is classified as a medullary cystic kidney disease.The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure.It is a form of...
is in the classification of this disorder.
- MCKD1 has been associated with chromosome 1, but not a specific gene yet.
- MCKD2 has been associated with UMOD on chromosome 16.