Key Warning Signs Of Nephronophthisis

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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