Doctors for Nephronophthisis in Chickballapur, Hubli-Dharwad
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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?
The diagnosis is done by various procedures which include:
• Urinalysis - is usually normal, occasionally, few cells and casts.
• Ultrasound - multiple small medullary cysts (1 mm to 1 cm in size), early scans may show smooth outline and normal-sized or small kidneys.
• Intravenous pyelogram - the kidneys are small, smooth with reduced function.
• CT scan of urinary tract - kidneys are small, smooth, and contain medullary cysts. This is more sensitive than ultrasound scanning.
• Renal biopsy can confirm the diagnosis.
• Genetic testing looking for homozygous deletions
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?
The condition is an inherited autosomal recessive disorder that is rare yet the most common cause of kidney failure in children.