[原著]慢性肉芽腫症の1家系例

概要

論文の詳細を見る
Chronic granulomatous disease (CGD) is a hereditary disorder of phagocytes characterized by their defective microbicidal activity and is clinically manifested by recurrent and intractable bacterial infections. Since it was first reported in 1957, about sixty cases of this disease have been reported in the literature of Japan. Recently, we have encountered first case of CGD in Okinawa. The patient is an 11-months-old boy. He is the third of three siblings and his two sisters as well as his parents are in good health. Since newborn period, he has had recurrent purulent infection of the skin and cervical lymphnodes. He was first admitted to the our hospital at the age of 8 months with osteomyelitis and bronchopneumonia. Two months after discharge, he was re-admitted with Staphylococcal scalded skin syndrome(SSSS). Laboratory studies at the our hospital, including bone marrow cytology, levels of immunoglobulins, complements and lymphocyte subpopulation, were all within normal limits. The most remarkable laboratory finding in this patient was the failure to reduce NBT in leukocytes, suggesting that he had bactericidal abnormality. So, he was further evaluated for his immunologic state at the Hiroshima University School of Medicine, where he was made definitive diagnosis of an X-linked recessive type of CGD, and his mother was carrier.
琉球大学医学部の論文
1981-00-00