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Pathophysiology of PNH and its related symptom  Discuss in your own words and in paragraph form, Include...

Pathophysiology of PNH and its related symptom  Discuss in your own words and in paragraph form, Include in discussion:

1.Cause of disorder

2.Complement involvement

3.Laboratory evaluation

Solutions

Expert Solution

PNH means Paroxysmal Nocturnal Hemoglobinuria. This is nothing but the patient may pass urine which is dark in colour due to break down of the red blood cells especially in the night time.

Pathophysiology and its related symptoms

The main etiological factor or cause to get this disorder is a history of aplastic anemia, family history. Generally there is a protein (PIG-A) in the cells of the RBC. This protein acts as a barrier and prevents any infection.It is often categorised to be a complement system. This is activated in case of any infection. The PNH arises when this gene is mutated causing the RBC to break easily. As a result the heamoglobin present in it are released. This leads to symptoms like dark or blood coloured urine, alterations in the clotting factor happens leading to blood clots, low hemoglobin leads to fatigue and paleness. This overtime decrease the level of oxygen and leads to breathing difficulty. Hence this is the time to take necessary medical help and prevent fatal complications.

1.Cause of the disorder

  • PIG-A mutation
  • Aplastic Anemia

2.The complement involvement is the action of the protein PIG-A in protecting the erythrocytes or the RBC from any kind of antigens

3.Laboratory evaluation

  • CBC to get the basic details
  • Urinalysis to detect presence of any RBC
  • HAMS test to confirm it
  • Flow cytometry is the recent tests carried to confirm the diagnosis

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