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?
Diagnosis is done by a GP who would do a urine test along with an ultrasound or even scan to check for these abnormalities.
HOW IS NEPHRONOPHTHISIS TREATED?
Treatment for this usually includes dialysis or kidney transplant because the problem is usually irreversible. However, till a viable solution or treatment plan is devised, improving the electrolyte imbalance is suggested through fluids. Such children are likely to suffer from anaemia too and hence health supplements are provided.
DID YOU KNOW?
The condition is an inherited autosomal recessive disorder that is rare yet the most common cause of kidney failure in children.