Key Warning Signs Of Nephronophthisis

Nephronophthisis is a kidney disorder where an affected individual's kidney function becomes impaired due to inflammation and scarring. This disorder is caused by a mutation in the NPHP1 gene that causes abnormal development of a cell structure called cilia. Cilia is imperative to the function of many different tissues, including those in the brain, liver, and kidneys. Nephronophthisis patients develop corticomedullary fluid-filled cysts in the kidneys. Three different forms of nephronophthisis are characterized by the age of which end-stage renal disease (ESRD) occurs. Infantile nephronophthisis typically progresses to ESRD before the patient reaches two years old. Juvenile nephronophthisis is characterized by symptoms that first manifest when the affected individual is between four to six years old and progresses to end-stage renal disease when they are around thirteen years old. Adolescent nephronophthisis typically progresses to ESRD by the time the patient reaches nineteen years old.

Numerous indications are commonly present in all forms of nephronophthisis. Learn about these key warning signs now.

Polydipsia

An individual who experiences polydipsia may be affected by nephronophthisis. Polydipsia is described in an individual who is unable to satisfy their thirst, no matter how much fluids they drink. Patients affected by polydipsia drink over six liters of fluids every day. The exact mechanism of how nephronophthisis causes excessive thirst is not clear. However, it involves the cyst presence, inflammation, scar tissue, and ciliary abnormalities, causing problems in the normal function of the kidneys to concentrate an individual's urine. When the body needs more water, the kidneys concentrate the urine and do not pull water from the blood. When the body has too much water, the kidneys do the opposite and pull the fluid out of the blood for excretion. Nephronophthisis patients have kidneys that don't perform this function very well. The kidneys do not concentrate the urine even when the individual needs to retain more fluid in the body. This malfunction causes the fluid to continue being excreted as diluted urine, and the brain to signal the need for more fluids through the mechanism of excessive thirst. The affected individual keeps drinking fluids in an attempt to satisfy the sensation of thirst being produced by the brain.

Keep reading to learn more about the symptoms of nephronophthisis now.

Polyuria

Increased urine production or polyuria is a common manifestation in individuals affected by nephronophthisis. The kidneys are responsible for reacting to the concentration of an individual's blood and adjusting the amount of fluid being expelled in the urine to keep a healthy balance. When the blood is too concentrated, the kidneys react by decreasing the amount of fluid being filtered out of the blood into the urine. When the blood is too diluted, the kidneys react by absorbing more fluid to be excreted through the individual's urine. This function is vital to a healthy homeostatic state of the human body, and dangerous complications can occur when the kidneys do not respond appropriately to these conditions. Nephronophthisis patients have poorly functioning kidneys due to the inflammation, scarring, and abnormalities in their ciliary structures. Due to this mechanism, the affected individual experiences polydipsia or excessive thirst. The kidneys cannot concentrate the urine, so more fluid is being expelled in diluted urine. The increase in urination causes the brain to signal more thirst. The patient consumes more fluids in response to the feeling of thirst, the kidneys are again unable to concentrate the urine, and this cycle continuously repeats.

Uncover details on more nephronophthisis warning signs now.

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.

Get familiar with more symptoms of nephronophthisis now.

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.

Continue for more information on the warning signs associated with nephronophthisis now.

Situs Inversus

Situs inversus can be a symptom that occurs in individuals affected by nephronophthisis. Situs inversus is an anatomical abnormality where the internal organs in an individual are a mirror image of the normal anatomy. This abnormality means there is a full transposition of the internal organs with normal front to back symmetry. Nephronophthisis does not cause situs inversus, but they are both caused by mutations in some of the same genes. Mutations that occur the NPHP2 and INVS gene of chromosome 9q31, NPHP3 gene of chromosome 3q22, NPHP14 and ZNF423 gene of chromosome 16q12, or the NPHP16 and ANKS6 genes of chromosome 9q22 can cause an affected individual to have both situs inversus and nephronophthisis. Most cases involving situs inversus are the infantile variation of nephronophthisis where an individual is born with both conditions. Situs inversus associated with nephronophthisis is caused by a primary cilia dysfunction or primary ciliary dyskinesia that materializes during the patient's embryonic development.