Nephrolithiasis is derived from the Greek name : nephros (kidney) lithos (stone).
Nephronophthisis is a genetic disorder that mainly affects children. Nephronophthisis is categorized as a medullary cystic kidney disease. Nephronophthisis is a type of ciliopathy with an incidence of 1 in 50,000 births in the United States. Infantile, juvenile and adolescent forms of Nephronophthisis have been identified so far. Symptoms are:
• Liver problems
• Cone shaped epiphysis
HOW IS NEPHRONOPHTHISIS DIAGNOSED?
Diagnosis of Nephronophthisis is done by a nephrologist based on the symptoms and evaluation of patient and family history. Pediatricians may identify the disease based on symptoms and additional diagnostic tests. A renal ultrasound helps diagnose the disease.
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.