Vitamin D status in internationally adopted children: the northwest Italy experience.

BACKGROUND: The majority of internationally adopted children, before adoption, might have experienced malnutrition, exposure to infectious diseases, environmental deprivation, and neglect; they could also develop medical problems such as vitamin D deficiency. Scantly data are available about vitamin D status in internationally adopted children and, to our knowledge, no report exists on Italian adoptees. METHODS: We carried out a prospective multicenter study, involving three Pediatric Centers in Piedmont, Italy, to collect information about 25-hydroxyvitamin D (25[OH]D) profile in adoptees, shortly after their arrival in Italy. RESULTS: In 142/158 internationally adopted children 25(OH)D was measured: 75 males and 67 females, with a mean age of 4.22±2.2 years. Fifty-three (37.3%) of them came from Asia, 48 (33.8%) from Africa, 24 (16.9%) from Eastern Europe, and 17 (12%) from Latin America. The median level of 25(OH)D in serum was 21.5 ng/mL (IQR range 14.3-29.7 ng/mL): 26 (18.2%) of the examined children had an insufficiency of 25-OHD, whereas 36 (25.2%) had a deficiency. Adoptees with longer time of institution stay had a significant risk to develop 25(OH)D deficiency. The Asian origin proved to be a risk factor to develop 25(OH)D deficiency, whereas the age >1 year was significantly associated with 25(OH)D insufficiency. CONCLUSIONS: Our survey showed that vitamin D deficiency and insufficiency, in internationally adoptees, are frequent and relevant health problems.

Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature.

Short stature is a frequent disorder in the pediatric population and can be caused by multiple factors. In the last few years, the introduction of Next Generation Sequencing (NGS) in the molecular diagnostic workflow led to the discovery of mutations in novel genes causing short stature including heterozygous mutations in ACAN gene. It encodes for aggrecan, a primary proteoglycan component specific for the structure of the cartilage growth plate, articular and intervertebral disc. We report a novel ACAN heterozygous pathogenic variant in a family with idiopathic short stature, early-onset osteoarthritis and osteoarthritis dissecans (SSOAOD). We also performed a literature review summarizing the clinical characteristic of ACAN's patients. The probands are two Caucasian sisters with a family history of short stature and osteoarthritis dissecans. They showed dysmorphic features such as mild midface hypoplasia, brachydactyly and broad thumbs, especially the great toes. The same phenotype was presented in the mother who had had short stature and suffered from intervertebral disc disease. DNA sequencing identified a heterozygous pathogenic variation (c.4390delG p.Val1464Ter) in the sisters, with a maternal inheritance. The nonsense mutation, located on exon 12, results in premature truncation and presumed loss of protein function. In terms of treatment, our patients underwent recombinant human growth hormone replacement therapy, associated with gonadotropin releasing hormone therapy, in order to block early growth cessation and therefore reach a better final height. Our case suggests that SSOAOD ACAN related should be considered in the differential diagnosis of children with autosomal dominant short stature and family history of joints disease.

Italian multicentre study found infectious and vaccine-preventable diseases in children adopted from Africa and recommends prompt medical screening.

AIM: This study evaluated the prevalence of infectious diseases and immunisation status of children adopted from Africa. METHODS: We studied 762 African children referred to 11 Italian paediatric centres in 2009-2015. Clinical and laboratory data were retrospectively collected and analysed. RESULTS: The median age of the children (60.3% males) was 3 years and 6 months, 52.6% came from Ethiopia and 50.1% had at least one infectious disease. Parasitic infections accounted for the majority of the infectious diseases (409 of 715), and the most common were Giardia lamblia (n = 239), Toxocara canis (n = 65) and skin infections (n = 205), notably Tinea capitis/corporis (n = 134) and Molluscum contagiosum (n = 56) Active tuberculosis (TB) was diagnosed in nine children (1.2%). Latent TB infections were diagnosed in 52 (6.8%) children, and only 23 had concordant positive tuberculin skin tests and Quantiferon Gold In-Tube results. Discordant results were associated with Bacille de Calmette-Guérin vaccinations (odd ratio 6.30 and 95% confidence interval of 1.01-39.20, p = 0.011). Nonprotective antitetanus or antihepatitis B antibody titres were documented in 266 (34.9%) and 396 (51.9%) of the 762 children. CONCLUSION: The prevalence of infectious conditions and not-protective titres for vaccine-preventable diseases observed in our population underlines the need for prompt and complete medical screening of children adopted from Africa.