一小部落内において多発した直接型過ビリルビン血症の事例について-2-とくにR型,D-J症候群の遺伝形式ならびに両者の部落内(および近親間)における混在について

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1. There were seen about 20 cases of constitutional direct hyperbilirubinemia in T. village, K. Island, Okinawa Prefecture and they seemed to have been inherited.<BR>Among them 3 icteric patients were investigated in our hospital including laparoscopy and liver biopsy and it was confirmed that one case was suffering from Rotor's syndrome and the other two from Dubin-Johnson syndrome. Besides 6 cases of Rotor's syndrome and 3 cases of Dubin-Johnson syndrome were found by ICG test.<BR>2. In this isolated village, all 12 icteric cases mentioned above were found only in four families. The type of jaundice which was found in the three out of the four families proved to be either Rotor's syndrome or Dubin-Johnson syndrome, but in the fourth family in which the pedigree of both types of jaundice were mixed, it was confirmed that father and daughter were affected with Dubin-Johnson syndrome and son with Rotor's syndrome. These are very important and interesting facts that have never been reported in established cases.<BR>3. Both Dubin-Johnson syndrome and Rotor's syndrome in this village seem to beinherited as an autosomal incomplete dominant trait.
社団法人日本肝臓学会の論文