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

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

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