Skip to main content

Diamond blackfan Anemia

Rare, bone marrow failure syndrome, 90% cases diagnosed in 1st yr of life.

Etiology

  • Ribosomal protein gene mutations 40S / 60S subunits (RPS19-40S ribosomal subunit)- 70%cases - ...therefore often called ribosomopathy
  • GATA1 - X.L.R

Clinical Manifestations

  • profund anemia evident by 2-6mo
  • Congenial anomalies
    • craniofacial - 50%
    • skeletal- 30%

LocationAnomalies
Craniofacial
  • Hypertelorism
  • Broad,flat nasal bridge
  • Cleft Palate
  • High arched palate
  • Microcephaly
  • Microtia
  • Micrognathia
  • Low set ears
  • Low hairline
  • Ptosis
Ophthalmic
  • Congenital glaucoma
  • Strabismus
  • Epicanthal folds
  • Congenital cataract
Neck
  • Short, webbed neck
  • Sprengel deformity
  • klippel feil deformity
Thumb
  • Triphalangeal, duplex,bifid
  • hypolastic
  • Flat thenar eminence
  • absent radial artery
Urogenital
  • Absent kidney
  • Horseshoe kidney
  • Hypospadias
Cardiac
  • VSD, ASD
  • Coarctation of aorta
  • Complex heart ds
Other
  • Low birth weight
  • Short stature
  • Syndactyly
  • Learning difficulties

Lab

  • RBC- macrocytic,↑ Hb F,↑ "i" antigen, no other features of megaloblastic anemia
  • ↑Erythrocyte adenosine deaminase(eADA)
  • ↓ Reticulocytes(erythrocyte prescursors)
  • ↑ S.Iron

D.D

  • Transient erythroblastopenia of childhood
  • Fanconi anemia
  • Shwachman Diamond syndrome
  • Myelodysplastic syndrome
  • Aase syndrome
  • HDNB-aplastic crisis
  • parvovirus B19
  • Pearson syndrome

Treatment

  • Chronic transfusion therapy upto 1 year age.(∵early corticosteroid impair physical & neurocognitive development)
  • then, initiate Prednisolone 2mg/kg/day
    • 1-3wks:↑ B.M erythrocyte precursor
    • 4-6wks: Hb normalises
  • when response +ve, Gradually taper till single lowest daily dose, then double the dose & use alternate day.(target maintenance: &lt 1mg/kg/altday)
  • pneumocystis prophylaxis after 1mo high dose corticosteroid
  • 35% remain unresponsive- transfusions required.
  • rx with l-leucine is promising.
  • HSCT is curative, best results,if done under 9yre age with HLA matched sibling donor.(ensure donor is DBA gene free)

Prognosis

it is known as cancer predisposition syndrome

  • myelodysplastic synd.
  • AML
  • Colonic ca.
  • Osteogenic sarcoma
  • female genital cancer
Iron overload related endocrinal abn.
  • diabetes
  • hypogonadism
Survival rate: @40yrs 87% if maintained on CS theray, 57% if transfusion dependent

Comments

Post a Comment

Popular posts from this blog

IAP Guidelines on junk food and fruit juices

 Target group: 1. Infants and adolescents aged between 6mo - 18yrs. 2. Children with normal growth and nutrition. 3. Not applicable to malnourished or ill children 4. Do not pertain to commercial formulations and therapeutic diets. THE JUNCS FOODS: J - JUNK Food: "foods (packed or non-packed, processed or non-processed) which contains little or limited presence of proteins, vitamins, phytochemicals, minerals and dietary fiber but are rich in fat (saturated fatty acids), salt and sugar and high in energy (calories) that are known to have negative impact on health if consumed regularly or in high amounts." U - Ultra Processed Foods "formulations of ingredients, mostly of exclusive industrial use that result from a series of industrial processes, including fractioning of whole foods into substances (sugars, oils and fats, proteins, starches and fiber), hydrolysis or hydrogenation, food assembly, coloring and flavouring." N - Nutritionally inappropriate foods C- Caffe...
Post a Comment
Read more

Psychosocial screening in adolescents

Screen used in psychosocial screening of adolescent: HEADSS H: Home: ● Who lives with the young person? Where? ● Do they have their own room? ● What are relationships like at home? ● What do parents and relatives do for a living? ● Ever institutionalized? Incarcerated? ● Recent moves? Running away? ● New people in home environment? E: Education & Employment: ● School/grade performance--any recent changes? Any dramatic past changes? ● Favorite subjects--worst subjects? (include grades) ● Any years repeated/classes failed ● Suspension, termination, dropping out? ● Future education/employment plans? ● Any current or past employment? ● Relations with teachers, employers--school, work attendance? A: Activities: ● On own, with peers (what do you do for fun?, where? when?) ● With family? ● Sports--regular exercise? ● Church attendance, clubs, projects? ● Hobbies--other activities? ● Reading for fun--what? ● TV--how much weekly--favorite shows? ● Favorite music? ● Does y...
Post a Comment
Read more