Kromozom 22q11.2 Delesyon Sendromunun Ender Bir Bulgusu: Multikistik Displastik Böbrek

Yıl 2019, , 163 - 166, 01.10.2019

Fuat Buğrul Fahrettin Duymuş

https://doi.org/10.5222/j.child.2019.76768

Öz

Velo-kardiyo-fasiyal/DiGeorge sendromu olarak da bilinen 22q11.2 delesyon sendromu 4000 canlı doğumda bir görülen en yaygın mikrodelesyon sendromudur. 22q11.2 otozomal dominant kalıtılan bir hastalıktır, ancak hastaların yaklaşık %90’ı 22q11.2 kromozomunda spontan ortaya çıkan heterozigot delesyonlara sahiptir. Sendromun klasik triadı konotrunkal kalp anomalileri Fallot, VSD, trunkusarteriozus, kesintili aortik ark gibi , hipoplastik timusa bağlı immün yetersizlik ve paratiroid hipoplazisine bağlı hipokalsemidir. Klinik özellikler hastanın yaşına bağlı olarak değişiklik gösterebilir. Tanı klinik ve laboratuvar bulgularıyla kuşkulanılan vakalarda floresan in situ hibridizasyon FISH yöntemi kullanılarak delesyonun gösterilmesiyle konur. Bu makalede, 22q11.2 delesyon sendromuna ender eşlik eden multikistik displastik böbreği olan adölesan kız vakası sunulmuştur.

Anahtar Kelimeler

22q11.2 Delesyon sendromu, DiGeorge sendromu, multikistik displastik böbrek

A Rare Finding of Chromosome 22q11.2 Deletion Syndrome: Multicystic Dysplastic Kidney

Öz

The 22q11.2 deletion syndrome also known as velocardiofacial/DiGeorge syndrome is the most common microdeletion syndrome seen in every 4000 live births. The 22q11.2 deletion syndrome is an autosomal dominant inherited disease and approximately 90% of the patients have spontaneous heterozygous deletions on chromosome 22q11.2. The classic triad of the syndrome is conotruncal heart abnormalities, immune deficiency due to hypoplastic thymus and hypocalcemia due to parathyroid hypoplasia. The clinical features may vary depending on the age of the patient. The diagnosis is made by demonstrating microdeletion using FISH method in cases suspected with clinical and laboratory findings. In this article a case of 22q11.2 deletion syndrome is presented in an adolescent girl with multicystic dysplastic kidney which rarely accompanies this syndrome.

Anahtar Kelimeler

22q11.2 deletion syndrome, DiGeorge syndrome, multicystic dysplastic kidney

Kaynakça

• 1. Cancrini C, Puliafito P, Digilio MC, Soresina A, Martino S, Rondelli R, et al. Clinical features and follow-up in patients with 22q11.2 Deletion syndrome. J Pediatr. 2014 Jun;164(6):1475-80
• 2. Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, et al. A population- based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003 Jul;112(1 Pt 1):101-7. https://doi.org/10.1542/peds.112.1.101
• 3. Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011 Aug;159(2):332-9. https://doi.org/10.1016/j.jpeds.2011.02.039
• 4. Saitta SC, Harris SE, Gaeth AP, Driscoll DA, McDonaldMcGinn DM, Maisenbacher MK, et al. Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum MolGenet. 2004 Feb 15;13(4):417-28. https://doi.org/10.1093/hmg/ddh041
• 5. Root AW, Diamond FB. Disorders of mineral homeostasis in children and adolescents. Sperling MA eds. 4th edition. 2014
• 6. Piliero LM, Sanford AN, McDonald-McGinn DM, Zackai EH, Sullivan KE. T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood. 2004 Feb 1;103(3):1020-5. https://doi.org/10.1182/blood-2003-08-2824
• 7. Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS. Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum Mutat. 2008 Mar;29(3):433-40. https://doi.org/10.1002/humu.20640
• 8. Van Batavia JP, Crowley TB, Burrows E, Zackai EH, Sanna-Cherchi S, McDonald-McGinn DM, Kolon TF. Anomalies of the genito urinary tract in children with 22q11.2 deletion syndrome. Am J Med Genet A. 2019 Mar;179(3):381-5. https://doi.org/10.1002/ajmg.a.61020
• 9. McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011 Jan;90(1):1-18. https://doi.org/10.1097/MD.0b013e3182060469
• 10. Fujii S, Nakanishi T. Clinical manifestations and frequency of hypocalcemia in 22q11.2 deletion syndrome. Pediatr Int. 2015 Dec;57(6):1086-9. https://doi.org/10.1111/ped.12665