Med-Surg: Chapter 19: X-Linked Agammaglobulinemia Flashcards
X-Linked Agammaglobulinemia
- example of a B-Cell Deficiency
- X-link recessive (gene that caused this disease is located on the X chromosome)
- inherited or congenital primary immune deficiency
- mostly affects males b/c it is unlikely a female will inherit 2 X chromosomes carrying the altered gene; a males gets one X chromosome, if their one X chromosome carries an altered or disease-carrying gene they will have symptoms of the disease
- females may inherit one altered gene, making them a carrier
Pathophysiology
-result of a mutation of the BTK gene
>BTK gene is present on the long arm of the X chromosome, and its defect results in a deficiency of Bruton’s Tyrosine Kinase, which is essential for development of the B lymphocyte
Bruton’s Tyrosine Kinase (BTK)
protein that transmits chemicals that alert B cells to mature and produce antibodies
What are B-cells?
specialized WBCs that , when mature, produce special proteins called antibodies or immunoglobulins
What happens When there is a deficiency of BTK?
leads to a deficiency in B-cells
What happens with this type of B-cell Deficiency?
- this type of B-Cell deficiency is one in which immature B cells are present in normal numbers but are unable to mature
- the inability to produce antibodies in response to the invasion of an antigen leaves the patient prone to several bacterial infections
X-linked Agammaglobulinemia Easily Explained
it is an inherited disease
-can be found on the X chromosome
-a deficiency in B-cells by the mutated BTK protein
-BTK is found on the X chromosome and alerts the immature B cells to mature and produce antibodies
>with this disease, there is a mutation of the BTK gene that inhibits the ability to alert the immature B cells; this leads to a deficiency in B cells; the B cells then cannot produce antibodies in response to a antigen
> X-linked Agammaglobulinemia (A= without, x-linked, emia =in blood)
Clinical Manifestations
- infections of the ears, lungs, skin, conjunctiva, and central nervous system (CNS)
- chronic respiratory infections (ex: sinus infection and pulmonary disease)
- can have recurrent pneumonia, meningitis, and septicemia b/c of inability to produce antibodies
- may also develop autoimmune diseases, leukemia, or lymphoma
What is the first indicator of the possibility of the disease in childhood?
presence of recurrent bacterial infections of the respiratory tract
Diagnosis
-detailed family history
-history of infections
>frequent infections such as otitis media, more severe infections requiring hospitalizations, or atypical infections can be indicators
-B-lymphocyte surface marker assays
-western blot test for BTK protein
-genetic testing
-periodic radiographs utilized to detect any signs of infection during early stages
B-Lymphocyte Surface Marker Assay
identify specific cells involved in the immune response
- diagnose disorders by identifying abnormal numbers and percentages of B-lymphocytes and help to evaluate immunodeficiencies
- aid in diagnosis of primary immunodeficiency disorders
Western Blot Test
can be done to determine if the BTK protein is being expressed
- BTK expression can be reported as present, absent, partial deficiency, or mosaic
- mosaic includes a carrier
Treatment
IV immune globulin (IVIG) to provide short term passive immunity
IV immune globulin (IVIG)
a sterilized solution made from human plasma
- contains antibodies, mostly immunoglobulin G (IgG) or gamma globulin, to help protect against infection from various diseases
- usually given q 3 or 4 weeks
Prophylactic Antibiotics
patients take a low dose regularly, even when feeling well, if the episodes of infection are frequent
- goal is to prevent infection from starting
- aggressive treatment with specific antibiotics is initiated when patient exhibits overt signs of infection
Complications
-children can develop severe life-threatening bacterial infection (pneumonia, empyema, meningitis, sepsis, cellulitis, or septic arthritis) or chronic viral enterovirus
Geriatric/ Gerontological Considerations
-have elevated risk of acute renal failure, arterial or venous thrombosis, hemolysis, and allergic/ hypersensitivity reactions during IVIG treatment
Why should Children with XLA and their siblings should be given inactivated polio vaccine rather than oral polio vaccine?
of patients with x-linked agammaglobulinemia (XLA), 5 to 10% developed vaccine associated polio after vaccination with the live attenuated oral polio vaccine
-do not give a live vaccine to someone who is immunocompromised
Manifestations Observed in the patient with XLA are r/t?
r/t infection of the respiratory tract, skin, conjunctiva, or ears
Common General Findings
- fever
- changes in behavior (inconsolable crying), eating patterns, irritability, decreased activity
Findings Upon Respiratory Assessment
- increased respiratory rate
- absent or decreased lung sounds
Findings Upon Skin Assessment
- rash
- lesions
Findings Upon Conjunctiva Assessment
redness or drainage
Findings Upon Ear Assessment
pulling at the ears
Nursing Assessments: Vital Signs
- increased temperature may = infection
- respiratory rate may increase with respiratory infections in an effort to increase oxygenation
Nursing Assessments: Assess Lung Sounds
- decreased or absent breath sounds or adventitious breath sounds
- with excessive secretions being common with respiratory infection
Nursing Assessments: Inspect eyes and ears, skin and nails, rashes and lesions
- red, inflamed ears = ear infection; recurrent ear infections are the most common infection prior to diagnosis
- red conjunctiva with drainage = conjunctivitis
- skin rashes and infections frequently seen
Nursing Assessments: Evaluate infant and child’s behavior and eating patterns
irritability, decreases in activity, and poor appetite = illness and infection
Nursing Actions
> Administer IV gamma globulin as ordered
-IV immune globulin contains antibodies to protect against infection, providing short-term immunity
Administer Prophylactic antibiotic therapy
-may prevent infections
anticipate prompt treatment with antibiotics when infection is present
-aggressive organism-specific treatment w/ antibiotics should begin as quickly as possible to prevent the development of extensive and more severe infections
Teachings
- teach about the 10 warning signs of primary immunodeficiency, and talk to provider if more than one of the conditions listed: prompt detection of XLA is essential to manage infections and initiate proper treatment with IVIG to avoid life-threatening complications
- institute precautions to prevent infection and minimize any source of infection in the environment at home related to foods (raw foods) and water, domestic animals, or unsanitary conditions; sites that accumulate stagnant water (sinks, toilets, waste pipes, cleaning tools, and facecloths) readily support microbial growth and can become secondary reservoirs of infection: potential sources of infection should be identified and controlled
- protect the patient from any direct contact with anyone with a contagious illness
- safe food handling and storage practices: food-based microorganisms can be a source of infection
- signs and symptoms of infection and when to seek medical attention, temp of 100.5 or more
- good hand washing
- information regarding genetic disorders and community support groups
Evaluating Care Outcomes
- appropriate antibiotic therapy and treatment with IVIG therapy can help patients with XLA lead normal, active lives
- provide family and patient with information regarding the importance of preventing infection and when to contact healthcare provider
- good prognosis if start antibiotic therapy early
