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

Yıl 2009, Cilt: 9 Sayı: 4, 172 - 175, 01.10.2009

Melike Zeynep Tuğrul Aksakal Ahmet Nayır Fiona E. Karet

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

• 1. Hidalgo RL, Moyano AP, Rodriguez MM, Morales SC. Distal renal tubuler acidosis with neurosensorydeafness. Clinical evolution after 30 years of follow-up. Nefrologia 2009; 29(5):499-500.
• 2. Rodriguez-Soriano J. Renal tubuler acidosis: the clinical entity. J Am Soc Nephrol 2002; 13:2160-70.
• 3. Karet FE. Inherited distal renal tubular acidosis. J Am Soc Nephrol 2002; 13:2178-184.
• 4. LJ, Cope DL, Jones GK, Schofield AE, Burley M, Povey S, et al. Familial distal renal tubular acidosis with mutations in red cell anion exchanger (Band 3, AE1) gene. J Clin Invest 1997; 100:1693-707.
• 5. Peters TA, Monnens LA, Cremers CW, Curfs JH. Genetic disorders of transports/ channels in the inner ear and their relation to the kidney. J Pediatr Nephrol 2004; 19:1194-201.
• 6. Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, et al. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal resessiv distal renal tubuler asidosis with new evidence for hearing loss. J Med Genet 2002; 39:796- 803.
• 7. Wangemann P. Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential. J Physiol 2006; 576:11-21.
• 8. Martinez AD, Acuna R, Figueroa V, Maripillan J, Nicholson B. Gap-junction channels dysfunction in deafness and hearing loss. Antioxid Redox Signal 2009; 11:1-14.
• 9. Lang F, Vallon V, Knipper M, Wangemann P. Functional significance of channels and transporters expressed in the inner ear and kidney. Am J Physiol Cell Physiol 2007; 293:1187-208.
• 10. Royer P, Broyer M. L’acidose rénale au cours des tubulopathies congénitales. Proceedings of Actualites Nephrologiques de l’Hopital Necker, Flammarion Paris, 1967; pp 73-92.
• 11. Gil H, Santos F, Garcia E, Alvarez MV, Ordonez FA, Malaga S, Coto E. Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children. Pediatr Nephrol 2007; 22:825-8.
• 12. Salt AN. Regulation of endolymphatic fluid volume. Ann N Y Acad Sci 2001; 942:306-12.
• 13. Gonzalez-Garcia JA, Ibanez A, Ramirez-Camacho R, Rodriguez A, Garcia-Berrocal JR et al. Enlarged vestibular aqueduct: looking for genotypic-phenotypic correlations. Eur Arch Otorhinolaryngol 2006; 263:971-6.
• 14. Berrettini S, Forli F, Franceschini SS, Ravecca F, Massimetti M et al. Distal renal tubular acidosis associated with isolated large vestibular aqueduct and sensorineural hearing loss. Ann Otol Rhinol Laryngol 2002; 111:385-91.