eMedicine Specialties > Pediatrics: General Medicine > Allergy & Immunology
DiGeorge Syndrome: Treatment & Medication
Updated: Oct 29, 2008
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
Treatment
Medical Care
A multidisciplinary team best cares for these individuals; however, one physician (usually the primary physician) needs to take the lead. The primary physician must monitor growth and development. A system-by-system approach gives the best results.
- Cardiac: Consult cardiologist as needed.
- Immunologist: Consult an immunologist if absolute lymphopenia is present. Follow the immunologist's recommendations for immunizations. Recent reports indicate that patients with DiGeorge syndrome (DGS) who are clinically stable can safely tolerate live vaccines, including the measles, mumps, and rubella (MMR) and varicella vaccine.
- Endocrine: If the patient is found to be hypocalcemic, begin calcium supplementation after proper tests (simultaneous serum calcium and serum parathyroid hormone levels) are obtained. Vitamin D supplementation may become necessary.
- Failure to thrive: Feeding difficulties and failure to thrive are common in these patients, especially in those with significant cleft palates. Occasionally, placement of a nasogastric or gastrostomy tube is necessary for feeding during the first 6-12 months of life. The tube provides adequate nutrition to prevent serious growth failure.
- Other problems: Patients with other conditions, including developmental delay and psychosis, should receive appropriate care.
Surgical Care
- Cardiac: Surgical repair is often necessary to correct the frequently observed cardiac defects.
- Head and neck: As patients with chromosome 22q11.2 deletion syndrome grow older, correction of hypernasal speech becomes important; this can be performed initially with speech therapy but surgery may be required. Consult a plastic surgeon experienced in treating velopharyngeal incompetence (VPI). Adenoidectomy may worsen the VPI.
Consultations
Multidisciplinary follow-up care is usually necessary to ensure that these patients receive optimal medical care; the following specialists can be consulted:
- Geneticist for initial evaluation and genetic counseling: Periodic follow-up consultations are recommended to apprise the family of new developments, to reinforce the counseling and recurrence risk assessment, and to direct the family to resources in the community.
- Pediatric cardiologist for evaluation and management of cardiac disease
- Pediatric cardiothoracic surgeons when patient requires cardiac surgery
- Craniofacial specialist for treatment of patients with cleft palate and feeding difficulties
- Otolaryngologist when recurrent otitis media occurs
- Immunologist for evaluation of immune function
- Pediatric endocrinologist for evaluation and management of hypocalcemia
- Psychologist and other specialists based on the organ system involved
Diet
No special diet is indicated. Tube feeding may be indicated when feeding problems are severe.
Activity
Activity restrictions depend on the nature and severity of the cardiac defect.
Medication
Medications are useful only when hypocalcemia or immune deficiency is present. Treat patients with severely impaired T-cell function or profound lymphopenia prophylactically with trimethoprim/sulfamethoxazole, as directed by the immunologist. Calcium supplementation is necessary in those with hypocalcemia. In rare cases in which calcium supplementation may not suffice, vitamin D may also be administered. In patients with primary immune deficiencies, an immunologist should decide whether to initiate replacement therapy with intravenous immunoglobulin.
Antibiotics
These agents are used prophylactically in patients with immunodeficiency.
Sulfamethoxazole and trimethoprim (Bactrim, Septra)
DOC for prophylaxis in DGA. Inhibits bacterial growth by inhibiting synthesis of dihydrofolic acid. This should be prescribed based on recommendations from the immunologist.
Adult
160 mg (based on trimethoprim component [ie, 1 double-strength tab]) PO bid administered 3 times/wk
Pediatric
Dose based on trimethoprim component
5-10 mg/kg/d or 150 mg/m2/d PO divided bid administered 3 times/wk; not to exceed 320 mg/d trimethoprim
May decrease clearance of warfarin or phenytoin; may displace methotrexate from protein-binding sites, resulting in increased levels; may increase levels of zidovudine
Documented hypersensitivity; porphyria; megaloblastic anemia due to folate deficiency; infants <2 mo
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Do not use during last trimester of pregnancy because of potential toxicity to newborn (eg, jaundice, hemolytic anemia, kernicterus); caution in G-6-PD deficiency (may cause hemolysis) and impaired renal or hepatic function; adjust dose in patients with renal impairment; discontinue at first appearance of skin rash or sign of adverse reaction; frequently obtain CBC counts; discontinue therapy if significant hematologic changes occur; goiter, diuresis, and hypoglycemia may occur with sulfonamides
Vitamin and mineral supplements
Hypocalcemia may occur, requiring supplementation with calcium. In patients with symptoms refractory to calcium, supplementation with a vitamin D analog may also be necessary.
Calcium carbonate (Oystercal, Caltrate)
Treatment and prevention of calcium depletion. Calcium moderates nerve and muscle performance by regulating action potential excitation threshold. One gram of calcium carbonate = 400 mg of elemental calcium.
Adult
1-2 g/d (as elemental calcium) PO (or more), depending on degree of hypocalcemia
Pediatric
Neonates: 50-150 mg/kg/d (as elemental calcium) PO divided 4-6 times/d; not to exceed 1 g/d
Children: 45-65 mg/kg/d (as elemental calcium) PO divided qid
May decrease effects of tetracyclines, atenolol, salicylates, iron salts, and fluoroquinolones; large intakes of dietary fiber may decrease calcium absorption and levels
Hypercalcemia; renal calculi; ventricular fibrillation
Pregnancy
B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals
Precautions
Do not coadminister other calcium supplementation; hypercalcemia or hypercalcuria may occur at therapeutic doses; measure serum calcium twice weekly during early dose adjustment period
Calcitriol (Rocaltrol)
Vitamin D analog and primary active metabolite of vitamin D-3. Increases calcium levels by promoting absorption of calcium in intestines and retention in kidneys. Use should be initiated only upon endocrinologist recommendation.
Adult
0.5-2 mcg PO qd
Pediatric
1-5 years: 0.25-0.75 mcg (0.04-0.08 mcg/kg/d) PO qd
>6 years: 0.5-2 mcg PO qd
Thiazide diuretics increase risk of hypercalcemia; corticosteroids counteract effects of calcitriol; cholestyramine may decrease absorption; hypercalcemia may cause arrhythmias and exacerbate digoxin
Documented hypersensitivity; hypercalcemia; vitamin D toxicity; malabsorption syndrome
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Adequate calcium supplementation is necessary for efficacy
More on DiGeorge Syndrome |
| Overview: DiGeorge Syndrome |
| Differential Diagnoses & Workup: DiGeorge Syndrome |
 Treatment & Medication: DiGeorge Syndrome |
| Follow-up: DiGeorge Syndrome |
| References |
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References
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Further Reading
Keywords
DiGeorge syndrome, DGS, DiGeorge association, DGA, chromosome 22q11.2 deletion syndrome, CATCH 22, cardiac anomalies, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia on chromosome 22, congenital cardiac anomalies, craniofacial dysmorphology, learning dysfunction, velocardiofacial syndrome, VCFS, conotruncal anomalies face syndrome, CTAF syndrome, CTAF, Shprintzen syndrome, Opitz G/BBB (dominant type), Sedlackova syndrome, hypoparathyroidism
failure to thrive, tetralogy of Fallot, truncus arteriosus, interrupted aortic arch, ventricular septal defect, VSD, pulmonary atresia, coarctation of the aorta, atrial septal defect, ASD, pulmonary stenosis, hypoplastic left heart, patent ductus arteriosus, transposition of great arteries, microcephaly, velopharyngeal incompetence, VPI, otitis media, hearing loss, severe combined immunodeficiency, hypogammaglobulinemia, juvenile rheumatoid arthritis, JRA, idiopathic thrombocytopenic purpura, ITP, autoimmune hemolytic anemia, AHA, attention deficit disorder, autism, depression, bipolar disorders, schizophrenia, anxiety
