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.
The lecture Fanconi Anemia (Pediatric Nursing) by Paula Ruedebusch is from the course Blood Disorders – Pediatric Nursing. It contains the following chapters:
What are hallmark signs of Fanconi anemia? Select all that apply.
Which are the symptoms of Fanconi anemia? Select all that apply.
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Clear and concise verry well explained and presented good reources added in video (photos, graphs and also X-ray)