The Return of Congenital Rickets, Are We Missing Occult Cases?

Congenital rickets is the term given to fetus born with clinical features of rickets, but those born with biochemical evidence of rickets without obvious clinical features still can be considered occult congenital rickets. Some of the affected babies with this disease have the intrauterine rachitic environment, but a calcium trans-placental pump prevents the fetus from having clinical features of rickets. They may present with hypocalcemia few days after birth or later with more florid features of rickets. Congenital rickets cases born with florid features reported over the last 40 years are few and can be divided into two groups. The first due to severe maternal osteomalacia in which their bones were so decalcified to have enough calcium to be pumped to their fetus. Another group in which newborn babies were hypocalcemic due to other maternal diseases as malabsorption, celiac disease, pre-eclampsia, and prematurity. All inherited rickets cases per se, or as part of other syndromes can be considered congenital rickets. Most cases seen in our region are due to maternal vitamin D deficiency with symptoms becoming obvious when the infants are breastfed, or may present with hypocalcemic convulsions or craniotabes. This is a review of congenital rickets with the aim of shedding light on this potentially acute disease that needs more attention and awareness in the neonatal period to avoid rare serious complications as cardiomyopathy or myelofibrosis and the complications of hypocalcemic convulsions. Congenital rickets cases seen simulate a tip of an ice-burg and its prevention is an important issue, especially with the tremendous urbanization with tall buildings living in sun-deprived flats as the commonest type of residence leading to the increasing incidence of maternal osteomalacia and rickets.

Celiaquía. Prevención a través de la nutrición del lactante / Celiac Disease: Prevention through infant nutrition

Introducción. La enfermedad celiaca es una intolerancia permanente al gluten en individuos genéticamente predispuestos. Pero no todos los individuos susceptibles y expuestos al gluten desarrollan la enfermedad: parece que también pueden influir factores ambientales como las infecciones gastrointestinales, la microbiota intestinal, la introducción temprana y en grandes cantidades del gluten y la lactancia materna. Objetivo. El objetivo de este trabajo es conocer si la nutrición del lactante puede disminuir el riesgo de desarrollar enfermedad celiaca. Método. Se realizó una búsqueda bibliográfica en Cuiden, Cochrane Library, PubMed, SciELO y Google Académico, combinando los descriptores. Se incluyeron trabajos relacionados con el objetivo del presente trabajo. Diez artículos cumplieron los criterios de inclusión y obtuvieron una puntuación alta en cuanto a la validez metodológica según la Guía CASPe. Resultados. La literatura evidencia que dar lactancia materna el máximo tiempo posible e introducir el gluten en la dieta en pequeñas cantidades y de forma gradual mientras el bebe aún se alimenta con leche materna disminuye el riesgo de desarrollar enfermedad celiaca. Conclusiones. La efectividad de la nutrición del lactante como estrategia de prevención de la enfermedad celiaca ha quedado demostrada. Pero no está claro si previene la enfermedad o solo retrasa el inicio de los síntomas, por lo cual se deben desarrollar nuevos estudios en este sentido (AU)

Introduction. Celiac disease is a permanent intolerance to gluten in genetically predisposed individuals. But not all susceptible individuals exposed to gluten and develop disease: appears that environmental factors may also influence such as gastrointestinal infections, intestinal microbiota, early and in large quantities of gluten introduction and breastfeeding. Objective. The objetive of this study is to determine if the infant nutrition may decrease the risk of developing celiac disease. Method. A literature search was performed Cuiden, Cochrane Library, PubMed, SciELO and Google Scholar, combining descriptors. Related to the objective of this paper work is included. Ten articles met the inclusion criteria and scored high in terms of methodological validity according to CASPe Guide. Results. The literature evidence to breastfeed as long as possible and introducing the gluten in the diet in small amounts and incrementally while the baby is still breastfed decreases the risk of developing celiac disease. Conclusions. The efficacy of the infant nutrition as prevention strategies for celiac disease has been demonstrated. But it is not clear whether this strategy prevents the disease or only delays the onset of symptoms. New studies should be developed to clarify this (AU)

Fenotipos HLA en niños celliacos y en familiares de primer grado. Estudio comparativo poblacional / HLA phenotypes in children with celiac disease and first-degree family members a comparative population-based study

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