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陣發性夜間血紅素尿症

Name of disease:

Paroxysmal Nocturnal Hemoglobinuria

ICD-10 diagnosis code:

D59.5

Causes:

Cases of are sporadic, which means they occur in people with no history of the disorder in their family. It is associated with the mutation of PIGA gene. PNH usually arises in autoimmune bone marrow failure of acquired aplastic anemia.

Mode of inheritance:

PNH is sporadic not inherited in family because the PIGA gene mutation is a somatic mutation

Prevalence:

0.5-1.5/1,000,000

Diagnosis:

The diagnosis of PNH can be based on blood test (abnormally high serum lactate dehydrogenase concentration) and symptoms of patients (hemoglobinuria). Flow cytometry can be used to identify PNH cells and confirm PNH diagnosis

Age of onset:

All ages

Common signs and symptoms:

Fatigue Hemolytic anemia Bone marrow failure Weakness Hemoglobinuria (blood in urine) Clot formation in vessels Abnormally pale skin Shortness of breath Increased heart rate

Available treatments (medicinal and non-medicinal):

Currently, medication Eculizumab is used as a treatment for PNH. Additional treatment for PNH is based on symptoms of patients and supportive in nature. The only curative therapy for patients is bone marrow transplantation.

Disease management tips:

Iron supplement shall be given to patients with iron deficiency because they may lose iron in urine after red blood cell destruction Folate supplement might also be necessary because the bone marrow might try to increase red blood cell production to compensate for hemolytic anemia, which increases folate demand. Patients with low blood cells count should receive treatment with blood transfusion. Antibiotics shall be given to patients with low white blood cell count to prevent infection; red blood cells shall be given to prevent anemia while platelet shall be transfused to prevent serious bleeding. Since patients may be immunocompromised due to the low white blood cell count, they are easily to have opportunistic infection like bacterial and fungal infection. They should try to use sterile objects in order to lower the risk of opportunistic infection.

References:

https://rarediseases.org/rare-diseases/paroxysmal-nocturnal-hemoglobinuria/ https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=447

Other useful websites

More about the disease:https://emedicine.medscape.com/article/207468-overview Patient groups: PNH support grouphttps://www.pnhdisease.org