Cian, four, suffers from Dyskeratosis Congenita
which affects one in a million.
Collins achieved fame by showing that defects in telomerase (the enzyme that lengthens telomeres) are linked with a genetic disease called dyskeratosis congenita
, which is associated with bone marrow failure.
During the one-and-a-half day symposium, researchers gave presentations about inherited bone marrow failure disorders such as Diamond Blackfan anemia, Shwachman-Diamond syndrome, Fanconi anemia, and dyskeratosis congenita
, as well as acquired bone marrow failure, most often referred to as acquired aplastic anemia.
This patient demonstrated several features of dyskeratosis congenita
(DC) in its classic form (nail dystrophy, mucosal leukoplakia, and skin pigmentation changes) and in concert with other abnormalities, including BM failure, urethral strictures, excessive tear production (epiphora), premature balding and gray hair, and pulmonary disease (1).
Andrews gives a list of conditions affected by telomere shortening, including: cardiovascular, cancer, COPD, degenerative disc disease, Alzheimer's, osteoarthritis, rheumatoid arthritis, osteoporosis, general immunity, skin aging, macular degeneration, liver cirrhosis, muscular dystrophy, cell and tissue transplants, AIDS, progeria, dyskeratosis congenita
, idiopathic pulmonary fibrosis, cri du chat syndrome, Down syndrome, Fanconi's anemia, tuberous sclerosis, Werner's syndrome, and aging itself.
608 Dyskeratosis congenita
1, Required for dyskerin ribosome biogenesis and telomere maintenance 0.
Mutations in any of these components may result in a rare bone marrow failure syndrome known as dyskeratosis congenita
The new findings arose from Mary Armanios' observation that diabetes seems to occur more often in patients with dyskeratosis congenita
, a rare, inherited disease caused by short telomeres.
5-year-old boy with dyskeratosis congenita
was brought for treatment to our hospital due to severe persistent cytopenia.
Although SDS may be representative of other inherited BM failure syndromes with a leukemic propensity, such as Fanconi anemia, Diamond-Blackfan anemia, or dyskeratosis congenita
, studies of each of these disorders are needed to investigate this hypothesis.
Furthermore, a number of inherited conditions, for example Down syndrome, Fanconi anemia, Bloom syndrome, Wiskott-Aldrich syndrome, dyskeratosis congenita
, Werner syndrome, Shwachman syndrome, Blackfan-Diamond syndrome, and Klinefelter syndrome, carry an increased risk of AML [5,6].
The first cohort consisted of 59 Fanconi patients (30 males and 29 females; median age, 13 years; age range, 1-53 years) and 27 non-Fanconi patients (9 males and 18 females; median age, 26 years; age range, 5-56 years) with acquired aplastic anemia (n = 19), paroxysmal nocturnal hemoglobinuria (n = 2), dyskeratosis congenita
(n = 3), Diamond-Blackfan anemia (n = 1), Schwachman syndrome (n = 1), or Glanzmann disease (n = 1).