Alport症候群,3家系5症例の検討

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Alport's syndrome is a condition in which there is dominant hereditary hearing loss with accompanying renal disease. In present study, we reported five cases in three families.Case 1 is a 27-year-old male and case 2 is his mother who is 59 years old. In these two cases, we found both hearing loss and renal disturbance. The hearing loss of case 1 is a 50dB loss on the right side and a 45dB loss on the left side. The hearing loss of case 2 is a 56dB loss on the right side and 63dB loss on the left side.Case 3 is a 24-year-old male who has renal disturbance and hearing loss. His hearing loss was a 36dB loss on the right side and a 28dB loss on the left side when he was 12 years old. The hearing loss was progressive and was a 57dB loss on the right side and a 50dB loss on the left side.Case 4 is a 12-year-old female and case 5 is her sister who is 9 years old. We found only renal disturbance in these two cases.Renal biopsy performed on cases 3 and 4 showed microscopically typical foam cells in the interstitial tissue.In all the cases, no other symptoms than hearing loss and renal disturbance were found.
耳鼻咽喉科臨床学会の論文