What is meant by paroxysmal nocturnal hemoglobinuria?

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired, life-threatening disease of the blood. The disease is characterized by destruction of red blood cells (hemolytic anemia), blood clots (thrombosis), and impaired bone marrow function (not making enough of the three blood components).

Why is paroxysmal nocturnal hemoglobinuria at night?

Most likely, PNH arises in the setting of autoimmune bone marrow failure, as occurs in most cases of acquired aplastic anemia. Researchers believe that defective PNH stem cells survive the misguided attack by the immune system and multiply, while healthy stem cells are destroyed, resulting in the development of PNH.

Is paroxysmal nocturnal hemoglobinuria autosomal dominant?

As an exception, an autosomal recessive inherited GPI deficiency resulting from a mutation of the PIG-M gene has been recently described in two kindreds; however, the phenotype was clearly different from that of PNH, with a partial GPI deficiency resulting in a clinical syndrome characterized by propensity to …

What does paroxysmal nocturnal hemoglobinuria cause?

Paroxysmal nocturnal hemoglobinuria (PNH) definition and facts. PNH is a rare, chronic disease that causes rapid breakdown of red blood cells and can result in reddish or cola-colored urine, often seen in the early morning after urination.

What causes red urine in the morning paroxysmal hemoglobinuria?

Paroxysmal nocturnal hemoglobinuria. It may develop on its own (“primary PNH”) or in the context of other bone marrow disorders such as aplastic anemia (“secondary PNH”). Only a minority of affected people (26%) have the telltale red urine in the morning that originally gave the condition its name.

Why is hemolysis usually chronic in PNH?

In PNH, hemolysis is usually chronic because the alternative pathway is always in a low-level activation state through a process known as tick-over. Terminal complement begins with cleavage of C5 to C5a and C5b. C5b oligomerizes with C6, C7, C8, and multiple C9 molecules to form the MAC.

Who was the first person to discover paroxysmal hemoglobinuria?

The first description of paroxysmal hemoglobinuria was by the German physician Paul Strübing (Greifswald, 1852–1915) during a lecture in 1881, later published in 1882.