Diamond-Blackfan anemia natural history, complications and prognosis: Difference between revisions
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**Have mild anemia beginning later in childhood or in adulthood, while others have some of the physical features but no bone marrow problems. | **Have mild anemia beginning later in childhood or in adulthood, while others have some of the physical features but no bone marrow problems. | ||
**Minimal or no evidence of congenital anomalies or short stature<ref name="pmid20301769">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Clinton C, Gazda HT |title= |journal= |volume= |issue= |pages= |date= |pmid=20301769 |doi= |url=}}</ref> | **Minimal or no evidence of congenital anomalies or short stature<ref name="pmid20301769">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Clinton C, Gazda HT |title= |journal= |volume= |issue= |pages= |date= |pmid=20301769 |doi= |url=}}</ref> | ||
*Common complications of Diamond black-fan include: | |||
*Physical abnormalities | |||
*higher-than-average chance of developing myelodysplastic syndrome (MDS), acute myeloid leukemia (AML) bone cancer (osteosarcoma), colon cancer<ref name="pmid20012593">{{cite journal |vauthors=Luft F |title=The rise of a ribosomopathy and increased cancer risk |journal=J. Mol. Med. |volume=88 |issue=1 |pages=1–3 |date=January 2010 |pmid=20012593 |doi=10.1007/s00109-009-0570-0 |url=}}</ref> | |||
*Eye problems such as [[cataracts]], [[glaucoma]], or [[strabismus]] | |||
*[[kidney]] abnormalities | |||
*[[hypospadias]] | |||
*Secondary complications due to standard therapies( Corticosteroids treatment, Red cell transfusion, Bone marroe transplantation): | |||
**Transfusion iron overload | |||
***Cirrhosis or fibrosis of the liver | |||
***Cardiac arrythmias | |||
***Diabetes | |||
***Reproductive organ failure | |||
***Growth stunting | |||
***Endocrine failure affecting the thyroid and adrenal | |||
**Side effects of corticosteroids | |||
***[[Osteoporosis]] | |||
***Weight gain | |||
***Cushingoid appearance | |||
***Hypertension | |||
***[[Diabetes mellitus]] | |||
***Growth retardation | |||
***Pathologic bone fractures | |||
***[[Gastric ulcers]] | |||
***[[Cataracts]] | |||
***[[Glaucoma]] | |||
***Increased susceptibility to infection | |||
**Stem cell transplantation | |||
***Graft vs. Host Disease (GVHD) | |||
***Rejection | |||
==References== | ==References== |
Revision as of 22:28, 7 August 2020
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Overview
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
OR
Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
OR
Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately
Diamond-Blackfan anemia natural history, complications and prognosis
Natural history The severity of Diamond-Blackfan anemia may vary, even within the same family.
- Classic DBA:
- Approximately half of DBA cases have Congenital malformations, in particular craniofacial, upper-limb, heart, and genitourinary malformations:(observed in ~30%-50%):
- Microcephaly
- low frontal hairline
- Wide-set eyes (hypertelorism)
- Droopy eyelids (ptosis)
- Broad, flat bridge of the nose
- Small, low-set ears
- Small lower jaw (micrognathia)
- Cleft palate
- Cleft lip
- Short, webbed neck
- Smaller and higher shoulder blades than usual
- Malformed or absent thumbs
- All diagnostic criteria are met.
- Non-classic DBA:
- presents with mild or absent anemia with only subtle indications of erythroid abnormalities such as macrocytosis, elevated ADA, and/or elevated HbF concentration
- Have mild anemia beginning later in childhood or in adulthood, while others have some of the physical features but no bone marrow problems.
- Minimal or no evidence of congenital anomalies or short stature[1]
- Common complications of Diamond black-fan include:
- Physical abnormalities
- higher-than-average chance of developing myelodysplastic syndrome (MDS), acute myeloid leukemia (AML) bone cancer (osteosarcoma), colon cancer[2]
- Eye problems such as cataracts, glaucoma, or strabismus
- kidney abnormalities
- hypospadias
- Secondary complications due to standard therapies( Corticosteroids treatment, Red cell transfusion, Bone marroe transplantation):
- Transfusion iron overload
- Cirrhosis or fibrosis of the liver
- Cardiac arrythmias
- Diabetes
- Reproductive organ failure
- Growth stunting
- Endocrine failure affecting the thyroid and adrenal
- Side effects of corticosteroids
- Osteoporosis
- Weight gain
- Cushingoid appearance
- Hypertension
- Diabetes mellitus
- Growth retardation
- Pathologic bone fractures
- Gastric ulcers
- Cataracts
- Glaucoma
- Increased susceptibility to infection
- Stem cell transplantation
- Graft vs. Host Disease (GVHD)
- Rejection
- Transfusion iron overload
References
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Clinton C, Gazda HT. PMID 20301769. Vancouver style error: initials (help); Missing or empty
|title=
(help) - ↑ Luft F (January 2010). "The rise of a ribosomopathy and increased cancer risk". J. Mol. Med. 88 (1): 1–3. doi:10.1007/s00109-009-0570-0. PMID 20012593.