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Fanconi Anemia (Pediatric Nursing)

by Paula Ruedebusch

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    00:01 Now let’s talk about Fanconi anemia, this is a rare genetic disease resulting in an impaired response to DNA damage.

    00:07 Fanconi anemia occurs in about 1 per 130,000 births with a higher frequency in the Ashkenazi Jewish population in Israel and Afrikaners in South Africa.

    00:18 What are the hallmarks? Well the first is characterized by bone marrow failure.

    00:22 This is the inability to produce new cells and this usually develops by the age of 40.

    00:27 Patients will often develop acute myelogenous leukemia or AML.

    00:31 They will also have solid tumor development and there are other congenital abnormalities including a short stature, abnormalities of the skin, arms, head, eyes, kidneys, ears and certain developmental disabilities.

    00:46 In the year 2000, the life expectancy of a patient with Fanconi anemia was 30 years old.

    00:51 Fanconi anemia is most often inherited in an autosomal recessive pattern which means both copies of the gene have to have the mutations for the disease to be present.

    01:01 If a patient has only one mutated gene, they are considered carriers and they typically do not show any signs and symptoms of this condition.

    01:08 As you can see here, both parents are carriers.

    01:11 With each pregnancy, the odds they will have an affected child, so with both mutated genes is 25%.

    01:18 and the odds of having a child who receives 1 mutated gene and as a carrier is 50% and the odds of having a completely unaffected child without any gene mutations is 25%.

    01:30 Remember these odds reset with each pregnancy and each child has the same odds regardless of the status of their siblings.

    01:37 What are the signs of symptoms of Fanconi anemia? Well your patient may have petechiae and remember these are the small pinpoint hemorrhages usually smaller than 2 millimeters.

    01:46 Your patient may be pale and this is due to the decrease in red blood cells.

    01:51 Same reason, your patient will have fatigue.

    01:53 Your patient can get frequent infections and this is because they have a suppressed immune system and decreased white blood cells They may be born with abnormal thumbs and absent radiii in their forearms.

    02:04 These patients will have a short stature and can have strabismus in their eyes.

    02:10 They may have low set ears and deafness, and hypopigmentation of the skin.

    02:15 Patients can also have a hyperpigmented cafe-au-lait spot.

    02:20 They may have abnormal facial features and abnormal kidneys.

    02:24 So how do we treat Fanconi anemia? Well the first-line therapy is with androgens and hematopoeitic growth factors but these are only effective about 50 to 75% of the time.

    02:35 A more permanent cure is a hematopoeitic stem cell transplant but this is a high-risk procedure that comes with its own set of potential complications.


    About the Lecture

    The lecture Fanconi Anemia (Pediatric Nursing) by Paula Ruedebusch is from the course Blood Disorders – Pediatric Nursing. It contains the following chapters:

    • Fanconi Anemia
    • Symptoms of Fanconi Anemia

    Included Quiz Questions

    1. Fanconi anemia
    2. Aplastic anemia
    3. Sickle cell anemia
    4. Trisomy 21
    1. Petechiae
    2. Abnormal thumbs
    3. Short stature
    4. Low-set ears
    5. Hyperhidrosis

    Author of lecture Fanconi Anemia (Pediatric Nursing)

     Paula Ruedebusch

    Paula Ruedebusch


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