アルカプトン尿性関節症の1家系について

抄録

We experienced 2 patients of osteoarthrosis alkaputonurica from one family tree. They are sisters. There are another two patients, father and brother, who were already dead and were supposed to have alkeputonuria from their clinical histories.
Present patients have ochronosis in the auricles and sclerae.
First clinical manifestation was low back pain and stiffness of the lumbar spine, radiating pain to the lower extremities and pain in the knee joint have gradually developed. Radiologic examination demonstrates degenerative changes and wafers-like changes of the intervertebral discs and so-called bamboo spine was partially observed.
In analysis of serum protein α₁ and α₂ globulin increased and there was also increases of the calcium levels in the serum.
The family tree indicates prepotent type of heredity.