難聴を伴う家族性腎炎

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A Japanese family of an apparent familial kidney disease with hearing loss are presented. Reports of this syndrome have appeared under different descriptive titles in foreign countries, such as U.S.A., Canada, England, France, Germany, Italy and Israel, but no systemic report has yet been made in Japan. In 1962, the first case report of this syndrome of a family was made by Dr. Sato et al. of Tokyo University, but the details of their studies are not available to us for critical review. This is the second case in Japan that was seen in the Department of Medicine, Keio University Hospital, Tokyo. A man, aged 25, was fiirst noted to have hem-aturia at the age of 3 years. Deafness was noted at the age of 14. Albuminuria was pointed out at the age of 18 by a doctor and it persisted until he was admitted to a university hospital one and half a month for the investigation and treatment. During the admission, complication of pyelitis and cystitis was seen. A short while after discharge he had a relapse and was admitted to the Depart-ment of Medicine, Keio University Hospital and was reffered to E.N.T. for deafness. He had hem-aturia and albuminuria at the time of admisson. Renal function was impaired and renal biopsy demonstrated foam cells. Audiometry showed bilaterally a nerve type deafness. Self-recording threshold audiometry showed the same results. X-ray studies of both ears were normal. TTS was negative. Recruitment appeared to be positive from the tracings in self-recording threshold audiometry. Speech intelligibility was shown as Fig. 5. Vestibular function tests including the examination of positional and positioning nystagmus, writing test and caloric tests were all normal. The pattern of inheritance of the renal disease (Fig. 1) appears to be due to a dominant gene, but whether it is by a partially sex-linked one or not is yet to be determined. As to the mode of deafn-ess, it seems to be by a recessive gene, but the relation to sex-linkage and renal disease is also not determined

難聴を伴う家族性腎炎

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