Nephrophthisis is a medical term that refers to a rare, progressive, and inherited disorder that primarily affects the kidneys. Also known as medullary cystic kidney disease, nephrophthisis is characterized by the development of cysts in the renal medulla, which is the inner part of the kidney. These cysts gradually replace normal kidney tissue, leading to a decline in kidney function over time, ultimately resulting in end-stage renal disease.
The pathology of nephrophthisis involves a complex interaction of genetic and environmental factors. It can be inherited as an autosomal recessive trait, meaning that a child must inherit two abnormal copies of the responsible gene, one from each parent, to develop the disease. However, in some cases, nephrophthisis may occur sporadically, without any prior family history.
Common symptoms of nephrophthisis include polyuria (excessive urination), polydipsia (increased thirst), growth retardation, anemia, electrolyte imbalances, and hypertension. As the disease progresses, affected individuals may experience chronic kidney failure, necessitating renal replacement therapy such as dialysis or kidney transplantation.
Diagnosis of nephrophthisis typically involves a combination of clinical evaluation, blood tests, imaging studies (such as ultrasounds or CT scans), and genetic testing. Treatment aims to manage symptoms, slow down disease progression, and prevent complications. However, despite intervention, nephrophthisis usually results in end-stage renal disease in late childhood or early adulthood.
In summary, nephrophthisis is a genetic disorder characterized by the formation of cysts in the renal medulla, leading to progressive kidney damage and eventual renal failure.
