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. Bone marrow failure
    2. Iron deficiency
    3. Splenomegaly
    4. Tumors
    5. Congenital abnormalities
    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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    Fanconi Anemia
    By Silvia G. on 06. November 2022 for Fanconi Anemia (Pediatric Nursing)

    Clear and concise verry well explained and presented good reources added in video (photos, graphs and also X-ray)