A case of alkaptonuria presenting rapidadvancing hip joint destruction.

概要

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Alkaptonuria is a congenital metabolic disease of autosomal recessive inheritance which causes homogentisic acid deposition in cartilages and connective tissues in defect of tyrosine and phenylalamine oxidase, leading to the onset of ocronotic arthropathy after middle age.There have been reported a comparatively small number of cases of the present disease involved in the hip joint, and Hasegawa, Hokujo, Hotokebuchi, Ishikawa and others are its reporters in Japan. However, few cases are available, which present comparatively high and rapidadvancing degenerations as reported by R. Lagier, P. J. Stephen, A Peretz and others. This time we reported a case, which seemed to have been subjected to capital destruction in a comparatively rapid way, together with both radiological and histological findings. The present case, which seems to show 3-generation autosomal recessive inheritance, was affected by ocronotic arthropathy not only of the hip joint but also of the spine and the shoulder joint.