DiGeorge syndrome: Difference between revisions
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==Background== | ==Background== | ||
*The most common microdeletion disorder in humans<ref>Lopez-Rivera, Esther, Ph. D., et al. “Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.” The New England Journal of Medicine, vol. 376, 2017, pp. 742–54, doi:10.1056/NEJMoa1609009.</ref> | |||
*As prevalent as 1/2000 people in US | *As prevalent as 1/2000 people in US | ||
*22q11 chromosomal defect | *22q11 chromosomal defect | ||
**Cause by a de novo heterozygous deletion of approximately 2.5 mb in length on chromosome 22q11.<ref>Lopez-Rivera, Esther, Ph. D., et al. “Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.” The New England Journal of Medicine, vol. 376, 2017, pp. 742–54, doi:10.1056/NEJMoa1609009.</ref> | |||
*Keep in differential for [[hypocalcemia]] of unknown etiology in pediatric patient | *Keep in differential for [[hypocalcemia]] of unknown etiology in pediatric patient | ||
==CATCH-22<ref>Wilson DI et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct; 30(10): 852–856.</ref>== | ==Clinical features== | ||
*Cardiac defects | ===CATCH-22<ref>Wilson DI et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct; 30(10): 852–856.</ref>=== | ||
*Abnormal facies - | *Cardiac defects (commonly interrupted aortic arch, [[truncus arteriosus]] and [[tetralogy of Fallot]]) | ||
*Abnormal facies - micrognathia, long face, etc. | |||
*Thymic hypoplasia - immune deficiencies | *Thymic hypoplasia - immune deficiencies | ||
*Cleft palate | *Cleft palate | ||
*[[Hypocalcemia]] | *[[Hypocalcemia]] due to [[hypoparathyroidism]] | ||
*Additional phenotypes include neurodevelopmental defects and urogenital malformations. | |||
**Congenital kidney and urinary tract anomalies are present in approximately 30% of the patients with the DiGeorge syndrome.<ref>Lopez-Rivera, Esther, Ph. D., et al. “Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.” The New England Journal of Medicine, vol. 376, 2017, pp. 742–54, doi:10.1056/NEJMoa1609009. </ref> | |||
==Differential diagnosis== | |||
==Evaluation== | |||
==Management<ref>Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332-9.e1. doi:10.1016/j.jpeds.2011.02.039</ref>== | |||
*Disease involves multiple systems and thus management depends on presentating chief complaint. | |||
*Identify and treat [[hypocalcemia]] as these patients are at risk for seizures<ref>Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332-9.e1. doi:10.1016/j.jpeds.2011.02.039</ref> | |||
**Vitamin D supplementation may also be needed | |||
*Psychiatric Disorders (60%) | |||
*[[Thrombocytopenia]] (30%) | |||
*[[Hypothyroidism]] (20%) | |||
*[[Cholelithiasis]] (20%) | |||
==Disposition== | |||
==See also== | |||
==References== | ==References== | ||
Latest revision as of 02:48, 9 August 2021
Background
- The most common microdeletion disorder in humans[1]
- As prevalent as 1/2000 people in US
- 22q11 chromosomal defect
- Cause by a de novo heterozygous deletion of approximately 2.5 mb in length on chromosome 22q11.[2]
- Keep in differential for hypocalcemia of unknown etiology in pediatric patient
Clinical features
CATCH-22[3]
- Cardiac defects (commonly interrupted aortic arch, truncus arteriosus and tetralogy of Fallot)
- Abnormal facies - micrognathia, long face, etc.
- Thymic hypoplasia - immune deficiencies
- Cleft palate
- Hypocalcemia due to hypoparathyroidism
- Additional phenotypes include neurodevelopmental defects and urogenital malformations.
- Congenital kidney and urinary tract anomalies are present in approximately 30% of the patients with the DiGeorge syndrome.[4]
Differential diagnosis
Evaluation
Management[5]
- Disease involves multiple systems and thus management depends on presentating chief complaint.
- Identify and treat hypocalcemia as these patients are at risk for seizures[6]
- Vitamin D supplementation may also be needed
- Psychiatric Disorders (60%)
- Thrombocytopenia (30%)
- Hypothyroidism (20%)
- Cholelithiasis (20%)
Disposition
See also
References
- ↑ Lopez-Rivera, Esther, Ph. D., et al. “Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.” The New England Journal of Medicine, vol. 376, 2017, pp. 742–54, doi:10.1056/NEJMoa1609009.
- ↑ Lopez-Rivera, Esther, Ph. D., et al. “Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.” The New England Journal of Medicine, vol. 376, 2017, pp. 742–54, doi:10.1056/NEJMoa1609009.
- ↑ Wilson DI et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct; 30(10): 852–856.
- ↑ Lopez-Rivera, Esther, Ph. D., et al. “Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.” The New England Journal of Medicine, vol. 376, 2017, pp. 742–54, doi:10.1056/NEJMoa1609009.
- ↑ Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332-9.e1. doi:10.1016/j.jpeds.2011.02.039
- ↑ Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332-9.e1. doi:10.1016/j.jpeds.2011.02.039