Med-Surg: Chapter 19: X-Linked Agammaglobulinemia

Question 1

X-Linked Agammaglobulinemia

Answer 1

• 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

Question 2

Pathophysiology

Answer 2

-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

Question 3

Bruton’s Tyrosine Kinase (BTK)

Answer 3

protein that transmits chemicals that alert B cells to mature and produce antibodies

Question 4

What are B-cells?

Answer 4

specialized WBCs that , when mature, produce special proteins called antibodies or immunoglobulins

Question 5

What happens When there is a deficiency of BTK?

Answer 5

leads to a deficiency in B-cells

Question 6

What happens with this type of B-cell Deficiency?

Answer 6

• 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

Question 7

X-linked Agammaglobulinemia Easily Explained

Answer 7

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)

Question 8

Clinical Manifestations

Answer 8

• 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

Question 9

What is the first indicator of the possibility of the disease in childhood?

Answer 9

presence of recurrent bacterial infections of the respiratory tract

Question 10

Diagnosis

Answer 10

-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

Question 11

B-Lymphocyte Surface Marker Assay

Answer 11

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

Question 12

Western Blot Test

Answer 12

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

Question 13

Treatment

Answer 13

IV immune globulin (IVIG) to provide short term passive immunity

Question 14

IV immune globulin (IVIG)

Answer 14

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

Question 15

Prophylactic Antibiotics

Answer 15

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

Question 16

Complications

Answer 16

-children can develop severe life-threatening bacterial infection (pneumonia, empyema, meningitis, sepsis, cellulitis, or septic arthritis) or chronic viral enterovirus

Question 17

Geriatric/ Gerontological Considerations

Answer 17

-have elevated risk of acute renal failure, arterial or venous thrombosis, hemolysis, and allergic/ hypersensitivity reactions during IVIG treatment

Question 18

Why should Children with XLA and their siblings should be given inactivated polio vaccine rather than oral polio vaccine?

Answer 18

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

Question 19

Manifestations Observed in the patient with XLA are r/t?

Answer 19

r/t infection of the respiratory tract, skin, conjunctiva, or ears

Question 20

Common General Findings

Answer 20

• fever

- changes in behavior (inconsolable crying), eating patterns, irritability, decreased activity

Question 21

Findings Upon Respiratory Assessment

Answer 21

• increased respiratory rate

- absent or decreased lung sounds

Question 22

Findings Upon Skin Assessment

Answer 22

• rash

- lesions

Question 23

Findings Upon Conjunctiva Assessment

Answer 23

redness or drainage

Question 24

Findings Upon Ear Assessment

Answer 24

pulling at the ears

Question 25

Nursing Assessments: Vital Signs

Answer 25

• increased temperature may = infection

- respiratory rate may increase with respiratory infections in an effort to increase oxygenation

Question 26

Nursing Assessments: Assess Lung Sounds

Answer 26

• decreased or absent breath sounds or adventitious breath sounds
• with excessive secretions being common with respiratory infection

Question 27

Nursing Assessments: Inspect eyes and ears, skin and nails, rashes and lesions

Answer 27

• 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

Question 28

Nursing Assessments: Evaluate infant and child’s behavior and eating patterns

Answer 28

irritability, decreases in activity, and poor appetite = illness and infection

Question 29

Nursing Actions

Answer 29

> 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

Question 30

Teachings

Answer 30

• 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

Question 31

Evaluating Care Outcomes

Answer 31

• 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