İnmemiş Testis Operasyonu Uygulanan DiGeorge Sendromlu Olguda Anestezi Yönetimi
Özet
Bu olgu sunumunda, DiGeorge sendromlu 3 yaşındaki bir erkek çocuğun inmemiş testis nedeniyle yapılan inguinal orşiopeksi ameliyatı sırasında karşılaşılabilecek anestezik zorluklar ve bu zorlukların yönetimi ele alınmıştır. DiGeorge sendromu, 22q11.2 kromozomal mikrodelesyonuyla ilişkili yaygın bir genetik bozukluktur. Kardiyak anomaliler, kraniofasiyal dismorfizm, timus ve paratiroid bezlerinin hipoplazisi gibi çoklu sistem tutulumlarına neden olabilir. Bu özellikler, cerrahi müdahale sırasında özel dikkat gerektiren bir dizi anestezi komplikasyonunu beraberinde getirir.
Hastanın klinik özellikleri ve geçmiş tıbbi öyküsü göz önüne alınarak, perioperatif dönemde kardiyak değerlendirme, zor hava yolu yönetimi, hipokalsemiye bağlı hemodinamik stabilite sağlanması, enfeksiyon riskinin azaltılması ve pulmoner komplikasyonların yönetimi gibi stratejiler uygulanmıştır. Bu yaklaşımlar, hastanın güvenliğini artırmak ve ameliyatın başarıyla tamamlanmasını sağlamak için kritik öneme sahiptir.
This case report discusses the anesthetic challenges and management strategies encountered during inguinal orchidopexy in a 3-year-old boy with DiGeorge syndrome and an undescended testis. DiGeorge syndrome is a common genetic disorder associated with a 22q11.2 chromosomal microdeletion, leading to multi-system involvement including cardiac anomalies, craniofacial dysmorphism, and hypoplasia of the thymus and parathyroid glands. These features introduce a range of anesthetic complications that require careful attention during surgical intervention.
Given the patient’s clinical characteristics and medical history, several perioperative strategies were employed, including cardiac evaluation, management of a difficult airway, stabilization of hemodynamics related to hypocalcemia, reduction of infection risk, and management of pulmonary complications. These approaches are crucial for enhancing patient safety and ensuring the successful completion of the surgery.
Referanslar
Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet. 1992;50(5):924-933.
Shprintzen RJ. Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev. 2008;14(1):3-10. doi:10.1002/ddrr.2
McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011;90(1):1-18. doi:10.1097/MD.0b013e3182060469
Bassett AS, Chow EW. 22q11 deletion syndrome: a genetic subtype of schizophrenia. Biol Psychiatry. 1999;46(7):882-891. doi:10.1016/s0006-3223(99)00114-6
Shprintzen RJ. Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev. 2008;14(1):3-10. doi:10.1002/ddrr.2
Schneider, Maude, et al. "Psychiatric disorders from childhood to adulthood in 22q11. 2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11. 2 Deletion Syndrome." American Journal of Psychiatry 171.6 (2014): 627-639.
Saitta SC, Harris SE, Gaeth AP, et al. Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet. 2004;13(4):417-428. doi:10.1093/hmg/ddh041
Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet. 2000;9(16):2421-2426. doi:10.1093/hmg/9.16.2421
Goldmuntz E, Clark BJ, Mitchell LE, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol. 1998;32(2):492-498. doi:10.1016/s0735-1097(98)00259-9
De la Chapelle A, Herva R, Koivisto M, Aula P. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet. 1981;57(3):253-256. doi:10.1007/BF00278938
Cortés-Martín J, Peñuela NL, Sánchez-García JC, Montiel-Troya M, Díaz-Rodríguez L, Rodríguez-Blanque R. Deletion Syndrome 22q11.2: A Systematic Review. Children (Basel). 2022;9(8):1168. Published 2022 Aug 3. doi:10.3390/children9081168
Kundal, R., Jain, P., Bhardwaj, A., Dogra, N., & Kundal, V. K. (2014). Anesthetic Management of Digeorge Syndrome. Journal of Case Reports, 4(1), 108-109.)
Burn J, Takao A, Wilson D, et al. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet. 1993;30(10):822-824. doi:10.1136/jmg.30.10.822
Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997;34(10):798-804. doi:10.1136/jmg.34.10.798
Wilson DI, Burn J, Scambler P, et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993;30(10):852-856. doi:10.1136/jmg.30.10.852
Cheung EN, George SR, Costain GA, et al. Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome. Clin Endocrinol (Oxf). 2014;81(2):190-196. doi:10.1111/cen.12466
Sullivan KE. Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome. Immunol Allergy Clin North Am. 2008;28(2):353-366. doi:10.1016/j.iac.2008.01.003
Referanslar
Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet. 1992;50(5):924-933.
Shprintzen RJ. Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev. 2008;14(1):3-10. doi:10.1002/ddrr.2
McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011;90(1):1-18. doi:10.1097/MD.0b013e3182060469
Bassett AS, Chow EW. 22q11 deletion syndrome: a genetic subtype of schizophrenia. Biol Psychiatry. 1999;46(7):882-891. doi:10.1016/s0006-3223(99)00114-6
Shprintzen RJ. Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev. 2008;14(1):3-10. doi:10.1002/ddrr.2
Schneider, Maude, et al. "Psychiatric disorders from childhood to adulthood in 22q11. 2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11. 2 Deletion Syndrome." American Journal of Psychiatry 171.6 (2014): 627-639.
Saitta SC, Harris SE, Gaeth AP, et al. Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet. 2004;13(4):417-428. doi:10.1093/hmg/ddh041
Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet. 2000;9(16):2421-2426. doi:10.1093/hmg/9.16.2421
Goldmuntz E, Clark BJ, Mitchell LE, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol. 1998;32(2):492-498. doi:10.1016/s0735-1097(98)00259-9
De la Chapelle A, Herva R, Koivisto M, Aula P. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet. 1981;57(3):253-256. doi:10.1007/BF00278938
Cortés-Martín J, Peñuela NL, Sánchez-García JC, Montiel-Troya M, Díaz-Rodríguez L, Rodríguez-Blanque R. Deletion Syndrome 22q11.2: A Systematic Review. Children (Basel). 2022;9(8):1168. Published 2022 Aug 3. doi:10.3390/children9081168
Kundal, R., Jain, P., Bhardwaj, A., Dogra, N., & Kundal, V. K. (2014). Anesthetic Management of Digeorge Syndrome. Journal of Case Reports, 4(1), 108-109.)
Burn J, Takao A, Wilson D, et al. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet. 1993;30(10):822-824. doi:10.1136/jmg.30.10.822
Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997;34(10):798-804. doi:10.1136/jmg.34.10.798
Wilson DI, Burn J, Scambler P, et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993;30(10):852-856. doi:10.1136/jmg.30.10.852
Cheung EN, George SR, Costain GA, et al. Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome. Clin Endocrinol (Oxf). 2014;81(2):190-196. doi:10.1111/cen.12466
Sullivan KE. Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome. Immunol Allergy Clin North Am. 2008;28(2):353-366. doi:10.1016/j.iac.2008.01.003
