[Severe combined immunodeficiencies: a case of adenosine-deaminase deficit]. / Le immunodeficienze combinate gravi: descrizione di un caso clinico di deficit di adenosin deaminasi.

Severe combined immunodeficiencies (SCID) are a group of rare genetic disorders characterized by profoundly defective T lymphocyte. We described in a two months old male a case of SCID with ADA deficiency. With this new case report we summarize recent developments in immunodeficiencies therapy, aiming to induce to bear in mind this disorder, despite its rarity, in differential diagnosis of infections, particularly respiratory or gastrointestinal infections.

Prevalence and correlations of early microvascular complications in young type I diabetic patients: role of puberty.

The prevalence and correlates of the early signs of renal, retinal and neurological microvascular complications were evaluated in 317 young patients with type I diabetes mellitus. Microalbuminuria was detected in 11% of patients and appeared to be strongly and positively related to HbA1c (p < 0.01) and less significantly to duration of diabetes (p < 0.02). Retinopathy was detected in 22.7% of patients and it was associated with duration of diabetes (p < 0.001). Peripheral neuropathy was detected in 18.5% of patients and there was a strong association with HbA1c (p < 0.01) and a weaker one with duration of diabetes (p < 0.05). Microalbuminuria was not detected in prepubertal patients while a similar frequency of retinopathy and neuropathy was observed in prepubertal and postpubertal patients. These results suggest that: 1) In short-term type I diabetic patients neuropathy is the most frequent microvascular complication, but after 10 years of diabetes, retinopathy exceeds the other complications; 2) Short-term metabolic control may influence the frequency of neuropathy and microalbuminuria but not retinopathy; 3) Puberty is involved in the appearance of microalbuminuria.

Prevalence and correlates of obesity in insulin dependent diabetic patients.

The prevalence of obesity, according to sex and pubertal stage, and the correlations between obesity and metabolic data were investigated in 286 diabetic patients (164 boys, 122 girls) with mean (SD) age 15.3 (3.2) years and mean (SD) duration of diabetes 7.5 (4.1) years. Prevalence of obesity according to the body mass index (BMI) criteria was 6.3%. Girls were more often obese than boys but the prevalence approached statistical significance only for the BMI criteria, at 9.8% v 3.7% (chi 2 = 3.5; p = 0.06); obesity was independent of pubertal stage. Distribution of BMI values of diabetic girls was skewed towards the high centiles of the INSERM tables: < 25th centile, 8.6%; 25th-50th centile, 17.3%; 50th-75th centile, 25.9%; > 75th centile, 48.2% (chi 2 = 19.17, p < 0.0005). BMI values of diabetic boys were homogeneously distributed. Age, duration of diabetes, insulin requirement, daily number of insulin injections, and metabolic control (HbA1c) were comparable in obese and non-obese diabetic patients. Moreover metabolic control and insulin requirements were comparable between diabetic patients with BMI above and below the 50th centile of the INSERM tables after matching for sex. In conclusion the prevalence of obesity in diabetic children and adolescents is quite similar to the prevalence reported in their non-diabetic peers. Obesity and BMI excess correlate with female gender but are independent of insulin requirement and metabolic control.