eMedicine Specialties > Allergy and Immunology > Immunodeficiencies

DiGeorge Syndrome: Treatment & Medication

Author: Patrick Htain Win, MD, President/Director, Allergy, Asthma and Immunology Center, SC
Coauthor(s): Sridhar Guduri, MD, Consulting Staff, Allergy and Asthma Clinics of Ohio; Iftikhar Hussain, MD, Director of Allergy, Asthma, and Immunology Center, PC
Contributor Information and Disclosures

Updated: Aug 3, 2009

Treatment

Medical Care

  • Endocrine
    • Hypoparathyroidism and hypocalcemia are managed with calcium supplements and vitamin D administration.
  • Cardiac
    • As aforementioned, treat with surgical interventions as necessary (see below).
  • Gastrointestinal
    • Approach depends on phenotype and dysfunction.
  • Renal
    • Approach depends on phenotype and dysfunction.
  • Treatment of immunodeficiency
    • Use the usual prophylactic regimens for T- and B-cell deficiency.
    • Several therapies have been used to treat immunodeficiency associated with DiGeorge anomaly. Cases of immune reconstitution have been reported following transplantation of HLA-identical bone marrow, peripheral blood mononuclear cells, and fetal thymus. However, some of these patients may have had partial DiGeorge anomaly, and improvement may have been coincidental.
    • Markert et al reported a study of 5 patients with complete DiGeorge anomaly who were treated with allogeneic, cultured, postnatal thymus tissue. Of these patients, 4 developed immune reconstitution with T-cell proliferative responses to mitogens.23
    • Early thymus transplantation (ie, before the onset of infectious complications) may promote successful immune reconstitution. Although Goldsobel et al reported that the results of thymus transplantation are disappointing, a significant number of patients in their group were lost to follow-up, and if their results were corrected accordingly, the benefits of thymus transplantation would seem to be more impressive.24 T-cell function may improve in patients with partial DiGeorge anomaly; therefore, thymus transplantation is not indicated.
    • In 2007, Markert et al released a follow-up article that reviewed 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation. In this article, they discuss the outcome of 44 consecutive transplants. This large cohort has helped investigators evaluate the ability of thymus transplantation to reconstitute immune function in infants with complete DiGeorge anomaly. At the time of publication, 33 of the 44 subjects who received a transplant were alive (75%), with posttransplant follow-up as long as 13 years. All deaths were reported to have occurred within 12 months of transplantation. One year after transplantation, 25 of 25 subjects tested had developed polyclonal T-cell repertoires and proliferative responses to mitogens. Additionally, transplantation was fairly well tolerated; the most common adverse events were hypothyroidism and enteritis.25

Surgical Care

Correct cardiac malformations per standard surgical techniques. Irradiated cytomegalovirus-negative blood products must be administered because of the risk of graft versus host disease with nonirradiated products. Because the risk of infection is very high, a low index of suspicion must be used with regard to starting antibiotics.

Consultations

Obtain early consultation with a cardiologist and immunologist to evaluate disease manifestations.

Medication

The goals of pharmacotherapy are to prevent calcium deficiency, reduce morbidity, and prevent complications.

Calcium salts

These agents are used to treat or prevent calcium deficiency.


Calcium gluconate (Kalcinate)

Moderates nerve and muscle performance and facilitates normal cardiac function. Can be administered IV initially, and calcium levels maintained with high-calcium diet. Some patients require oral calcium supplementation. The 10% IV solution provides 100 mg/mL of calcium gluconate, which equals 9 mg/mL (0.46 mEq/mL) of elemental calcium.

Adult

Doses expressed as calcium gluconate
2-3 g IV over 5-10 min; repeat q6h prn based on response and serum calcium levels; not to exceed 15 g/d
Alternatively: Repeat doses administered as 167 mg/kg IV infusion over 4-6h prn
Oral supplementation: 15 g/d PO divided tid/qid

Pediatric

Doses expressed as calcium gluconate
100-200 mg/kg IV over 5-10 min; then 500 mg/kg/d IV continuous infusion or divided doses q6-8h
Oral supplementation: 500-725 mg/kg/d PO divided qid

May decrease effects of tetracyclines, atenolol, salicylates, iron salts, and fluoroquinolones; antagonizes effects of verapamil; large intakes of dietary fiber may decrease calcium absorption and levels

Documented hypersensitivity; renal calculi; hypercalcemia; hypophosphatemia; renal or cardiac disease; digitalis toxicity

Pregnancy

B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals

Precautions

Caution in digitalized patients and patients with respiratory failure, acidosis, or severe hyperphosphatemia


Calcium carbonate (Os-Cal, Titralac, Oystercal, Caltrate)

Has higher oral bioavailability of calcium than other orally administered calcium salt products. Moderates nerve and muscle performance and facilitates normal cardiac function. Dose expressed as calcium carbonate.

Adult

5-10 g/d PO divided tid/qid

Pediatric

112.5-162.5 mg/kg/d PO divided qid

May decrease effects of tetracyclines, atenolol, salicylates, iron salts, and fluoroquinolones; antagonizes effects of verapamil; large intakes of dietary fiber may decrease calcium absorption and levels

Documented hypersensitivity; renal calculi; hypercalcemia; hypophosphatemia; renal or cardiac disease; digitalis toxicity

Pregnancy

B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals

Precautions

Caution in digitalized patients and patients with respiratory failure, acidosis, or severe hyperphosphatemia

Vitamin D supplements

These supplements help treat, prevent, or manage hypocalcemia.


Ergocalciferol, vitamin D-2 (Drisdol)

Vitamin D-2 analog converted in liver to an active intermediate and then further converted to most active form in kidneys. Effectively increases renal reabsorption of calcium, intestinal absorption of calcium, and calcium mobilization from bone to plasma.

Adult

25,000-200,000 U/d PO along with calcium supplements

Pediatric

Administer as in adults

Colestipol, mineral oil, and cholestyramine may decrease absorption of ergocalciferol from small intestine; thiazide diuretics may increase effects of vitamin D

Documented hypersensitivity; hypercalcemia; malabsorption syndrome

Pregnancy

A - Fetal risk not revealed in controlled studies in humans

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

Pregnancy category C in doses >400 U/d; caution in patients with cardiac disease, arteriosclerosis, renal impairment, and renal stones; caution during breastfeeding

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

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Keywords

DiGeorge syndrome, DiGeorge anomaly, DGA, thymic hypoplasia, thymic aplasia, third and fourth pouch syndrome, third and fourth arch syndrome, cellular immunodeficiency, hypoparathyroidism, 22q11 deletion syndromes, 22q11.2 deletion syndromes, 22q11DS, CH22qD syndrome, velocardiofacial syndrome, VCFS, Shprintzen syndrome, conotruncal anomaly face syndrome, Cayler syndrome, Opitz-GBBB syndrome, CHARGE syndrome, coloboma, heart anomalies, atresia of choanae, choanal atresia, retardation, genital hypoplasia, ear anomalies, hypocalcemia, fetal alcohol syndrome, FAS, FISH, FISH technique, fluorescent in situ hybridization, multiplex ligation-dependent probe amplification, MLPA

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Contributor Information and Disclosures

Author

Patrick Htain Win, MD, President/Director, Allergy, Asthma and Immunology Center, SC
Patrick Htain Win, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Allergy, Asthma and Immunology, and Joint Council of Allergy, Asthma and Immunology
Disclosure: Nothing to disclose.

Coauthor(s)

Sridhar Guduri, MD, Consulting Staff, Allergy and Asthma Clinics of Ohio
Sridhar Guduri, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology and American College of Allergy, Asthma and Immunology
Disclosure: Nothing to disclose.

Iftikhar Hussain, MD, Director of Allergy, Asthma, and Immunology Center, PC
Iftikhar Hussain, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American College of Allergy, Asthma and Immunology, American College of Physicians, American Thoracic Society, and Association of Clinical Research Professionals
Disclosure: Nothing to disclose.

Medical Editor

Charles H Kirkpatrick, MD, Professor of Medicine and Immunology, University of Colorado School of Medicine; Director of Adult Immune Deficiency Program, Department of Medicine, University of Colorado Health Sciences Center; Consulting Staff, Department of Medicine, National Jewish Medical and Research Center
Charles H Kirkpatrick, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Physicians, American Federation for Clinical Research, American Society for Clinical Investigation, and Clinical Immunology Society
Disclosure: Lev Pharmaceuticals Consulting fee Consulting

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Samuel R Marney, Jr, MD, Director, Associate Professor, Department of Internal Medicine, Division of Allergy and Immunology, Vanderbilt University School of Medicine
Samuel R Marney, Jr, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American College of Allergy, Asthma and Immunology, American College of Physicians, and Tennessee Medical Association
Disclosure: Nothing to disclose.

CME Editor

Timothy D Rice, MD, Associate Professor, Departments of Internal Medicine and Pediatrics and Adolescent Medicine, Saint Louis University School of Medicine
Timothy D Rice, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Physicians
Disclosure: Nothing to disclose.

Chief Editor

Michael A Kaliner, MD, Clinical Professor of Medicine, George Washington University School of Medicine; Chief, Section of Allergy and Immunology, Washington Hospital Center; Medical Director, Institute for Asthma and Allergy
Michael A Kaliner, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Allergy, Asthma and Immunology, American Society for Clinical Investigation, American Thoracic Society, and Association of American Physicians
Disclosure: Abbott Consulting fee Consulting; Alcon Consulting fee Consulting; Glaxo Consulting fee Consulting; Greer Consulting fee Consulting; Sanofi Consulting fee Consulting; Schering Consulting fee Consulting; Teva  Consulting; Meda Honoraria Speaking and teaching

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