Lower extremity superficial phlebitis is associated with conditions that increase the risk of thrombosis, including abnormalities of coagulation or fibrinolysis, endothelial dysfunction, infection, venous stasis, intravenous therapy and intravenous drug abuse. Diagnosis
Clinical evaluation is the primary diagnostic tool for thrombophlebitis. Patients with thrombophlebitis complain of pain along the affected area. Some report constitutional symptoms such as low grade fever and aches. On physical examination, the skin over the affected vein exhibits erythema, warmth, swelling, and tenderness. Later in the disease, as induration subsides, erythema gives way to a ruddy or bruised color.Duplex ultrasound identifies the presence, location and extent of venous thrombosis, and can help identify other pathology that may be a source of the patients complaints. Ultrasound is indicated if superficial phlebitis involves or extends into the proximal one-third of the medial thigh, there is evidence for clinical extension of phlebitis, lower extremity swelling is greater than would be expected from a superficial phlebitis alone or diagnosis of superficial thrombophlebitis in question. Treatment
Treatment with compression stockings should be offered to patients with lower extremity superficial phlebitis, if not contraindicated (e.g., peripheral artery disease). Patients may find them helpful for reducing swelling and pain once the acute inflammation subsides.
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. Its incidence has been estimated to be 0.9 cases per million people in the United States, and 1 in 50,000 births in Canada. Signs and symptoms
Infantile, juvenile, and adolescent forms of nephronophthisis have been identified. Although the range of characterizations is broad, people affected by nephronophthisis typically present with polyuria (production of a large volume of urine), polydipsia (excessive liquid intake), and after several months to years, end-stage kidney disease, a condition necessitating either dialysis or a kidney transplant in order to survive. Some individuals with nephronophthisis also have so-called "extra-renal symptoms" which can include tapetoretinal degeneration, liver problems, oculomotor apraxia, and cone-shaped epiphysis (Saldino-Mainzer syndrome). Cause
Nephronophthisis is characterized by fibrosis and the formation of cysts at the cortico-medullary junction, it is an autosomal recessive disorder which eventually leads to terminal kidney failure. Pathophysiology
Mechanism of nephronophthisis indicates that all proteins mutated in cystic kidney diseases express themselves in primary cilia. NPHP gene mutations cause defects in signaling resulting in flaws of planar cell polarity. The ciliary theory indicates that  multiple organs are involved in NPHP (retinal degeneration, cerebellar hypoplasia, liver fibrosis, and intellectual disability). Related rare genetic disorders
Nephronophthisis is a ciliopathy.