Nephronophthisis

Nephronophthisis is a rare genetic kidney illness that is passed down in an autosomal recessive way. It is one of the most common genetic causes of kidney failure in kids and young adults. The condition mostly affects the kidneys' ability to concentrate urine, which causes symptoms including polyuria (too much urination), polydipsia (too much thirst), anaemia, and delayed growth. It entails increasing inflammation, scarring of kidney tissue (interstitial fibrosis), and rupture of the tubular basement membrane, frequently resulting in cyst formation in the corticomedullary region.

Nephronophthisis is divided into three subcategories based on the age at which end-stage renal disease (ESRD) manifests: infantile (before age 4), juvenile (about 13 years), and adolescent (approximately 19 years).

In addition to renal complications, certain patients exhibit extrarenal manifestations, including retinal degeneration, liver fibrosis, or neurological anomalies, linked to syndromic conditions such as Senior-Løken and Joubert syndromes. Diagnosis depends on clinical signs, imaging that shows renal problems, and genetic testing. At this time, there is no cure, and treatment is mostly about controlling symptoms and kidney loss, which often leads to a kidney transplant. In general, nephronophthisis is a major hereditary cause of chronic kidney disease and kidney failure in young people.