Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.
HOW IS NEPHRONOPHTHISIS DIAGNOSED?
A Nephrologists/General Physician diagnoses Nephrolithiasis by conducting a renal ultrasound and by examining the medical history of the family.
HOW IS NEPHRONOPHTHISIS TREATED?
Treatment of the condition is symptomatic and supportive. Medications help in delaying the progress of the disease. A kidney transplant may become essential as the child grows into adulthood.
DID YOU KNOW?
Nephronophthisis is inherited in an autosomal recessive fashion.