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Detailed information of BRUTON DISEASE
BRUTON DISEASE
DEFINITION:
An x-linked recessive agammaglobulinemia characterized by the
early onset of recurrent pyogenic infections.
EPIDEMIOLOGY:
- incidence: ?
- age of onset:
- risk factors:
- familial - x-linked recessive
- chrom.#: Xq21.3-q22
- gene: ?
- M only
PATHOGENESIS:
- genetic defect -> arrest of B cell development in the bone
marrow (pre-B cells containing intracytoplasmic 'u' chains are
produced in normal numbers) -> immature B cells in the bone
marrow and blood -> no antibody production to immunization with
antigens - the gene implicated in Bruton Disease is a member of
the src family of protein-tyrosine kinase (Vetrie et al., Nature
361:
- 226-233 [1993])
- patients are asymptomatic until between 6-12 months of age
for it takes this length of time for the maternal IgG to be
catabolized - patients are at risk for recurrent and chronic
infections with:
- encapsulated pyogenic organisms
- H. flu - Staphylococcus
- pneumococci - Streptococcus
2. Viral
- enteroviral - echovirus, poliovirus
- hepatitis
CLINICAL FEATURES:
- purulent sinusitis, otitis media, bronchiectasis,
pneumonia
- chronic cough, chronic lung disease, cor pulmonale
2. Cutaneous
- intractable eczema
- pyoderma (chronic cellulitis)
- recurrent skin abscesses
3. Others
- conjunctivitis - sepsis
- meningitis - severe dental decay
- osteomyelitis
- GI tract usually not affected unless by giardiasis
- no lymph node or spleen hypertrophy, absence of tonsils
2. Complications
- lymphoreticular malignancies - leukemia, lymphoma
3. Others
- failure to thrive
- disseminated echovirus -> encephalitis, chronic
inflamma-tion of large joints, syndrome similar to
dermatomyositis, and/or death
INVESTIGATIONS:
- few circulating B cells (immature)
- absence of plasma cells in all lymphoid tissue
- decrease of all classes of immunoglobulins (except IgE
which actually may be increased)
2. Cell-Mediated
- normal number and function of T cells, i.e., normal
cell-mediated immunity
3. CBC
- chronic thrombocytopenia and hemolytic anemia
2. Imaging Studies
- chronic pulmonary infiltrates
MANAGEMENT:
- multidisciplinary approach
- Paediatrics - moniter for infections (treat with
anti-viral agents and antibiotics), autoimmune diseases, and
malignancies
- Genetics - genetic counselling, prenatal diagnosis (with
DXS 159 as probe)
- ID - prophylactic gammaglobulin
- prophylactic antibiotics
- avoid immunization with attenuated live viral vaccines
2. Bone Marrow Transplantation
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Pediatric Database - BRUTON DISEASE
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