Chronic granulomatous disease 100% corrected by displacement bone marrow transplantation from a volunteer unrelated donor.

A boy whose chronic granulomatous disease (CGD) manifested in infancy, and whose elder brother had died at 7 years of age, had phagocytes with complete lack of functional cytochrome B-245 and which could not be induced by interferon gamma to achieve adequate staphylococcal killing. He underwent an elective displacement bone marrow transplant from a volunteer unrelated donor at the age of 8 months. This has achieved 100% replacement of the CGD granulocytes by those of the normal volunteer and the boy has since had a normal childhood for 3 years. Six previous transplants for CGD are briefly reviewed and illustrate that the host abnormal marrow must be completely displaced using an adequate dose of busulphan to ensure 100% stable engraftment of the donor's marrow and that this is best done under elective conditions before septic foci and irreversible organ damage have occurred. Criteria need to be developed to identify early those patients likely to have severe morbidity.

Autoantibodies after bone marrow transplantation in children with genetic disorders: relation to chronic graft-versus-host disease.

The occurrence of autoantibodies and their relation to chronic graft-versus-host disease (GVHD) have been studied in children, 100 days or more following allogenic bone marrow transplantation (BMT), mainly performed for a variety of genetic disorder. Seventeen of 40 patients had autoantibodies to thyroid microsomes, compared with none of 46 control children of similar age (p less than 0.001). The presence of these antibodies was strongly associated with chronic GVHD (14 of 20 patients), p = 0.001. IgG antibodies to the cytoplasm of squamous epithelial cells were demonstrated in 15 of 36 children following transplantation (p less than 0.001), none being found in 46 normal children. The incidence and titre of these antibodies were significantly higher in patients with chronic GVHD (p = 0.041 and p = 0.019 respectively). Despite there being a significant number of patients with antibodies to nuclei, smooth muscle and gastric parietal cells, these autoantibodies were not related to the presence of chronic GVHD. Although the mechanism of production is not known, antibodies to thyroid antigens and the cytoplasm of squamous epithelial cells may be useful markers for GVHD.

Ten minute radiopharmaceutical test in biliary atresia.

To provide an objective rapid means of excluding extrahepatic biliary atresia (atresia), a hepatic index was devised from the ratio of the net hepatic to cardiac distribution of 99mTc diisopropyl iminodiacetic acid or methylbrom iminodiacetic acid between 2.5 and 10 minutes after injection. The hepatic index was compared with subjective assessment of abdominal scintigraphy performed repeatedly over 24 hours. In 22 infants with hepatitis the hepatic index ranged from 5.03 to 14.9, one having no excretion on scintiscan. In 26 infants with atresia the index ranged from 0.49 to 4.26 and in two with paucity of intralobular bile ducts it was 1.85 and 3.69. None of these infants had excretion apparent on scintiscans. Similarly, low hepatic indices occurred in four infants with liver dysfunction but pigmented stools, three of whom had no excretion apparent on scintiscans. These preliminary studies suggest that a hepatic index of greater than 5 is much more rapid and as specific in excluding atresia as repeated abdominal scintigraphy.