Iron deficiency anemia in newly diagnosed celiac disease in children.

BACKGROUND: Celiac disease (CD) in children may occur with a wide spectrum of clinical manifestations: anemia is the most frequent extraintestinal manifestation, iron deficiency anemia (IDA) is the common presentation. In our study we aimed to assess IDA condition in a large cohort of pediatric patients with newly diagnosed CD. METHODS: Our study includes a cohort of 518 children (340 females and 178 males), 6 months-18 years old, joined between January 1990 and January 2013. We have analyzed hematological parameters and iron balance: serum iron, serum ferritin and serum transferrin levels. The diagnosis of IDA was considered on the basis of hemoglobin levels below -2SD, associated with serum iron and ferritin reduction, serum transferrin increase; all compared with the normal reference values for age. RESULTS: Of all patients, 156 patients (30.1%) had anemia, including 103 females (19.8%) and 53 males (10.2%); of these, 112 (21.62%) had IDA (in 18 cases associated with α- or ß-thalassemia trait), 22 were thalassemic trait without iron deficiency and the remaining 19 suffered from other forms of anemia. One hundred fifteen patients (22.20%) with low ferritin levels but normal hemoglobin levels were considered as preanemic iron deficient patients. CONCLUSION: Our data confirm that iron depletion and IDA represent a frequent finding at the diagnosis of CD. This significant relation existing between CD and iron deficiency should be considered by pediatricians at the diagnosis of CD in order to treat the patients.

Effect of recombinant human growth hormone (rhGH) on hemoglobin concentration in children with idiopathic growth hormone deficiency-related anemia.

Normocytic-normochromic anemia (NC/NC) has been attributed to impaired bone marrow erythropoiesis in growth hormone (GH)-deficient patients. Moreover, the GH/insulin-like growth factor-1 (IGF-1) axis has been implicated in erythropoiesis regulation. In this retrospective multicenter study, we evaluated the incidence of NC/NC anemia in 279 children (196 boys), median age 10.52 years, with isolated idiopathic GH deficiency, and the effect of recombinant human growth hormone (rhGH) therapy on hemoglobin levels. At 6-month intervals, we recorded the Hb standard deviation score (Hb-SDS), the IGF-1-SDS, weight, height, and pubertal stage. Forty-one boys and 7 girls had NC/NC anemia before starting substitutive therapy (-2.59 SD). The Hb-SDS was significantly increased (P<0.05) after 12 months of rhGH therapy. The effect of rhGH continued up to 48 months (-0.39 SD), at which point all children had normal hemoglobin values. In conclusion, rhGH therapy resulted in normal hemoglobin values in all children enrolled in the study. These data support the concept that the GH/IGF-1 axis promotes erythropoiesis in vivo.

Genetic variants associated with gastrointestinal symptoms in Fabry disease.

Gastrointestinal symptoms (GIS) are often among the earliest presenting events in Fabry disease (FD), an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A. Despite recent advances in clinical and molecular characterization of FD, the pathophysiology of the GIS is still poorly understood. To shed light either on differential clinical presentation or on intervariability of GIS in FD, we genotyped 1936 genetic markers across 231 genes that encode for drug-metabolizing enzymes and drug transport proteins in 49 FD patients, using the DMET Plus platform. All nine single nucleotide polymorphisms (SNPs) mapped within four genes showed statistically significant differences in genotype frequencies between FD patients who experienced GIS and patients without GIS: ABCB11 (odd ratio (OR) = 18.07, P = 0,0019; OR = 8.21, P = 0,0083; OR=8.21, P = 0,0083; OR = 8.21, P = 0,0083),SLCO1B1 (OR = 9.23, P = 0,0065; OR = 5.08, P = 0,0289; OR = 8.21, P = 0,0083), NR1I3 (OR = 5.40, P = 0,0191) and ABCC5 (OR = 14.44, P = 0,0060). This is the first study that investigates the relationships between genetic heterogeneity in drug absorption, distribution, metabolism and excretion (ADME) related genes and GIS in FD. Our findings provide a novel genetic variant framework which warrants further investigation for precision medicine in FD.

Chronic idiopathic neutrophilia in two twins.

Neutrophilia in adults refers to an alteration in the total number of blood neutrophils that is in excess of about 7500 cells/µL. This definition is restrictive in childhood as neutrophil count is age-dependent. Chronic Idiopathic Neutrophilia (CIN) refers to a condition that persists for many years in individuals who appear otherwise healthy. CIN is rarely mentioned in scientific literature and in academic books of hematology; only few words are dedicated to this topic. We report a case study of two twins with CIN followed from the first year of life to 24 years of age. To the best of our knowledge this is the first case report of two twins with CIN followed through a long period of time. We believe that our observation may contribute to better understand and characterize this hematologic abnormality.

Use of alternative-complementary-medicine (CAM) in Calabrian children.

OBJECTIVE: The use of complementary and alternative medicine (CAM) has not been widely studied among children in Italy. ISTAT-2005 survey showed a prevalence of 10% concerning children treated with CAM. The lack of data about the use of CAM in pediatrics in the South of Italy aimed us to conduct an epidemiological inquiry in Calabria. METHODS: The study has been conducted from 2009 and 2011 at the Pediatric Units of: University "Magna Graecia"-Catanzaro (CZ), Pugliese-Ciaccio Hospital-Catanzaro (CZ), Annunziata Hospital-Cosenza (CS), Jazzolino Hospital- ViboValentia (VV), Riuniti Hospitals-Reggio Calabria (RC) and San Giovanni di Dio Hospital-Crotone (KR). All information was collected through a questionnaire proposed to children's parents admitted to these hospitals as out-patients or in-patients. RESULTS: 1387 parents were approached to complete the questionnaire. 21(1,5%) refused to answer. A total of 1366 questionnaire was analyzed: 378 at CZ , 450 at CS, 131 at KR, 201 at VV and 206 at RC, with a response rate of 98,5%. In total, the percentage of children using CAM varied from 18% in Crotone to 38% in Cosenza. The parents who used CAM for their children were older and with a higher education. Phytotherapy was preferred to homeopathy. The gastrointestinal pathologies and upper respiratory tract are those ones for which frequently parents recur to CAM. Of note we have not to disregard their use " to strengthen" the immune system. In most of cases CAM have been prescribed by pediatrician. CONCLUSIONS: Our study remarks that the use of CAM is increased dramatically among the calabrian children in the last years as well as in other countries. Pediatricians need to improve their knowledge about CAM in order to better manage the parental attitude.