Key Warning Signs Of Nephronophthisis

Kidney Scarring And Inflammation

Kidney scarring and inflammation are both symptoms that can indicate an individual is affected by nephronophthisis. The DNA mutations that occur in affected individuals cause the primary cilia inside of the kidneys to have defects. The cilia in the kidney act as a sort of antenna for the cell and also play a role in directing the epithelial cell repair process. When the kidneys experience inflammation, cellular injury, or cellular damage, the body usually is able to repair them. When the body repairs epithelial cells and tissues, the damaged tissue is replaced by a denser fibrous type of tissue called scar tissue or fibrosis. Because there is an increased amount of inflammation that occurs in the kidneys of a nephronophthisis patient, more damage occurs in their tissues. When their body repairs these tissues, fibrosis or scarring accumulates. The excessive scarring can also be partly attributed to the defect in the ciliary function intended to properly dictate the process of epithelial cell repair. When the kidneys become scarred from inflammation, their overall functionality declines.

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Anemia

An individual may experience anemia as a manifestation of their nephronophthisis. In healthy individuals, there is a mechanism in place involving the kidneys to help regulate a healthy rate of blood cell production by the bone marrow. When an individual experiences hypoxia or low blood oxygen levels, the kidneys produce and secrete a glycoprotein called erythropoietin as a response. Erythropoietin gives the bone marrow extra stimulation to produce more red blood cells. Numerous factors can cause an individual to experience temporary and mild hypoxia, which their healthy kidneys help mediate and resolve. These changes do not typically cause long term issues for healthy individuals. However, nephronophthisis patents have poorly functioning kidneys that cannot produce the amount of erythropoietin required by their body. The deficiency in erythropoietin production means the body is unable to mediate a temporary occurrence of hypoxia and keep a homeostatic balance of blood cell production to turnover. This malfunction allows the patient to become anemic or deficient in healthy functioning red blood cells over time.

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