APDS2 is a combined immunodeficiency with a variable clinical phenotype. Complications are frequent, such as severe bacterial and viral infections, lymphoproliferation, and lymphoma similar to APDS1/PASLI-CD. Immunoglobulin replacement therapy, rapamycin, and, likely in the near future, selective phosphoinositide 3-kinase δ inhibitors are possible treatment options.

The bone mineral density (BMD) of the lumbar spine (L1-L4) was measured by dual energy x-ray absorptiometry (Hologic QDR 1000) in 135 healthy caucasian children, aged 1-15 yr, and values were correlated with age, height, weight, body surface, bone age, pubertal status, calcium intake, vitamin D supplementation, and serum bone gla protein. BMD increased with age in children of both sexes (r = 0.88; P less than 0.001) from 0.446 +/- 0.048 g/cm2 at 1 yr to 0.625 +/- 0.068 g/cm2 at 10 yr and 0.891 +/- 0.123 g/cm2 at 15 yr of age. The increase was steeper at the time of puberty, reaching values above 0.80 g/cm2 after puberty was achieved. There were no significant differences between boys and girls, except at the age of 12 yr when BMD was higher in girls than in boys (P = 0.007), probably because of the earlier onset of puberty in females. BMD was also highly correlated with height, weight, body surface, and bone age. BMD was not correlated with calcium intake when age was held constant, nor with vitamin D supplementation. Serum bone gla protein showed a steady increase during childhood, with peak values at 11-12 yr of age, and was weakly but significantly correlated with BMD (r = 0.27; P = 0.007). Because of low irradiation exposure, rapid scanning, and high precision, dual energy x-ray absorptiometry is a noninvasive method which is well adapted to the child. It should be helpful in the investigation and follow-up of children with diseases impairing bone metabolism.

Steroid-resistant nephrotic syndrome (NS) with focal glomerulosclerosis (FGS) and its recurrence after transplantation are mainly seen in children. The recurrence rate approximates 30% and the graft loss is about half this. Several therapeutic regimens have been proposed, giving conflicting results. In an attempt to remove a putative circulating factor and inhibit its production by lymphocytes, three patients with biopsy-proven FGS in the native kidney were included in a prospective uncontrolled trial using early plasmaphaeresis followed by substitutive immunoglobulins in association with methylprednisolone pulses and cyclophosphamide instead of azathioprine over a 2-month period. The patients were girls, aged 6.5, 13.3 and 15.8 years, who received a cadaveric transplant; concomitant immunosuppression included prednisone and cyclosporine A. All three patients exhibited early recurrence of the NS and were treated 5-10 days after the onset of proteinuria. Rapid and sustained remission was achieved in all patients within 12-24 days on therapy. One patient experienced a late acute but steroid-sensitive rejection episode; another suffered from septic ankle arthritis as a complication of reinforced immunosuppression. The latter girl had a second late recurrence of proteinuria that was controlled within 7 weeks. With a 18- to 27-month follow-up, all three patients have normal renal function, normal blood pressure and no proteinuria. We conclude that intensive therapy using plasmaphaeresis, steroid pulses and cyclophosphamide over a 2-month period can induce complete remission in children with early recurrence of NS after transplantation.

No abstract