What is nephronophthisis?

What is nephronophthisis?

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).

How is nephronophthisis diagnosed?

The diagnosis of nephronophthisis phenotype is based on the following clinical findings, renal ultrasound findings, and family history. Chronic renal failure: Not resulting from congenital structural abnormalities of the kidneys and/or urinary tract. Without signs or symptoms of a glomerular cause.

What is infantile nephronophthisis?

Disease definition. A rare clinical variant of hereditary nephronophthisis characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before 3 years of age.

What is an NPHP?

Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that is now known to be included in a growing class of disorders called ciliopathies. NPHP is characterized by chronic tubulointerstitial nephritis with eventual progression to ESKD.

Is Nephronophthisis a genetic disorder?

Nephronophthisis is a genetic disorder of the kidneys which affects children. It is classified as a medullary cystic kidney disease. The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure. It is a form of ciliopathy.

Can Nephronophthisis be cured?

Nephronophthisis is inherited in an autosomal recessive manner. At present, there is no treatment for preventing progression to end-stage renal failure.

Can Nephrocalcinosis cause kidney failure?

Childhood nephrocalcinosis occurs in the medullary form in most cases and can progress to chronic kidney failure with a need for dialysis during childhood or early adulthood [7].

What is McKusick Kaufman syndrome?

Description. Collapse Section. McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly ), heart defects, and genital abnormalities.

What are the symptoms of nephropathy?


  • Worsening blood pressure control.
  • Protein in the urine.
  • Swelling of feet, ankles, hands or eyes.
  • Increased need to urinate.
  • Reduced need for insulin or diabetes medicine.
  • Confusion or difficulty concentrating.
  • Shortness of breath.
  • Loss of appetite.

What causes nephropathy?

What causes diabetic nephropathy? Hypertension, or high blood pressure, is a complication of diabetes that is believed to contribute most directly to diabetic nephropathy. Hypertension is believed to be both a cause of diabetic nephropathy, as well as a result of the damage that is created by the disease.