Distal Renal Tubuler Asidozlu Vakalarımızda Sensorinöral İşitme Kaybı ve ATP6V1B1 Gen Mutasyonu İlişkisi

Öz

Amaç: Primer distal renal tubuler asidoz dRTA ender görülen genetik hastalıklardan biridir. Otozomal ressesif primer distal renal asidozlu hastaların büyük çoğunluğunda sensöri-nöral işitme kaybı SNİK görülmektedir. ATP6V1B1 genindeki mutasyonların erken başlangıçlı SNİK ile ilişkili olduğu bilinmektedir. Bu çalışmada kliniğimizde dRTA tanısı konulan 22 vakada, hastalığın SNİK ve ATP6V1B1 gen mutasyonu varlığı ile ilişkisini sunmayı amaçladık. Yöntem: Kliniğimizde 1992-2005 yılları arasında dRTA tanısı konulan vakalar yaş, cinsiyet, akraba evliliği öyküsü, NSİK ve ATP6V1B1 gen mutasyonu açısından retrospektif olarak incelendi. Nöro-sensoriyal işitme kaybı değerlendirmesi saf-ses odyogram incelemesi kullanıldı. ATP6V1B1 gen mutasyonu varlığı araştırıldı. Hastalığın SNİK ve ATP6V1B1 gen mutasyonu varlığıyla ilişkisi değerlendirildi. Bulgular: İncelenen 22 dRTA’lı vakanın 11’inde ATP6V1B1, 4’ünde ATP6N1B1 gen mutasyonu bulundu. Gen mutasyonu tespit edilen 15 hastanın 9’unda SNİK tespit edildi. Gen mutasyonu bulunmayan hastaların odyogramlarında SNİK tespit edilmedi. Sonuç: Yaptığımız çalışma dRTA’lı vakalarda SNİK ve ATP6V1B1 gen mutasyonu ilişkisini desteklemektedir.

Anahtar Kelimeler

• Distal renal tubuler asidoz,ATP6V1B1 gen mutasyonu,sensöri-nöral işitme kaybı

Sensorineural Hearing Loss in Patients with Distal Renal Tubular Acidosis and Association with Mutations in ATP6V1B1 Gene

Öz

Aim: Primary distal renal tubuler acidosis dRTA is a rare genetic disease. Autosomal recessive primary dRTA manifest as sensorineural hearing loss SNHL . Mutations in ATP6V1B1 are associated with early onset SNHL. We report our cases with dRTA and association of SNHL with having mutations in ATP6V1B1 gene. Method: The records of 22 patients, with dRTA at İstanbul University Pediatric Nephrology Department between 1992 and 2005 were evaluated retrospectively with respect to age, sex, consanguineous, SNHL and ATP6V1B1 gene mutation. Audiogram was used for evaluating SNHL. ATP6V1B1 gene mutation was analyzed. We studied the relationship between dRTA and SNHL with ATP6V1B1 gene mutation. Results: ATP6V1B1 gene mutation was found in 11 patients and ATP6N1B1 mutation in 4 patients. SNHL was detected in 9 patients who had gene mutations. No patient had SNHL who had no gene mutation. Conclusion: Our results support the association between ATP6V1B1 gene mutation and SNHL are associated with dRTA.

Anahtar Kelimeler

• Distal renal tubuler acidosis,ATP6V1B1 gene mutation,sensorineural hearing loss

Kaynakça

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