Juvenile nephronophthisis

Juvenile nephronophthisis is the juvenile form of nephronophthisis that causes end stage renal disease around the age of 13; infantile nephronophthisis and adolescent nephronophthisis cause ESRD around the ages of 1 and 19, respectively.

Signs and symptoms

Typically, the signs and symptoms of juvenile nephronophthisis are limited to the kidneys. They include polyuria, polydipsia, weakness, and fatigue.[1]

When other organ systems are affected, symptoms can include situs inversus, heart abnormalities, and liver fibrosis. Juvenile nephronophthisis can also be associated with other rare disorders, including Senior–Løken syndrome and Joubert syndrome.[1]

Pathophysiology

Juvenile nephronophthisis causes fibrosis and scarring of the kidneys, which accounts for the symptoms observed. The kidneys also often have corticomedullary cysts.[1]

References

  1. 1 2 3 "Nephronophthisis". Genetics Home Reference. Retrieved 2015-07-25.
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