BackgroundCompliance with a gluten-free diet (GFD) is difficult at all ages but particularly for teenagers due to social, cultural, economic, and practical pressures. The multidisciplinary team responsible for the treatment of patients with celiac disease and give support to their parents plays a special role on strengthening GFD and assessing the nutritional and physical health.MethodsA cross-sectional and retrospective study including patients under 20 years of age, with biopsy-confirmed CD, followed regularly at the Department of Pediatrics, Division of Gastroenterology, Hospital das Clínicas, University of Sao Paulo, School of Medicine, Sao Paulo, Brazil, were surveyed using a questionnaire and serologic test applied between November 2011 and February 2012. A retrospective chart review of these patients was performed to collect the anthropometric data along with the results of the serologic test performed at the time of diagnosis and after at least 1 year of treatment with a GFD.ResultsWe evaluated 35 patients aged between 2.4 and 19.9 years. Of these 68.6% were female, 88.6% had the typical form of the disease and 51.4% had other comorbidities. The mean age at diagnosis was 5.4 years. Despite dietary guidance, 20% reported non-adherence to the diet. Most children recovered the weight and height deficit after 5 years of treatment, and in some children, excessive weight gain became a concern.ConclusionThe majority of transgressions occurred intentionally at home or at parties. There was a risk of excessive weight gain, especially in the first two years of treatment. More alternatives and easier access to low cost gluten-free foods, increasing the discussion about the benefits of adhering to a GFD among patients, families, and the general population, besides the acquisition of self-management skills, are crucial to fostering independent children and adolescents who have the knowledge and tools to manage life with CD.Electronic supplementary materialThe online version of this article (10.1186/s12876-018-0740-z) contains supplementary material, which is available to authorized users.

IntroductionSteroid-resistant nephrotic syndrome (SRNS) affects both children and adults and has a high rate of progression to end-stage renal disease. Although a subset of patients have well-characterized genetic mutation(s), in the majority of cases, the etiology is unknown. Over the past 50 years, a number of case reports have suggested the potential impact of dietary changes in controlling primary nephrotic syndrome, especially gluten and dairy restrictions.MethodsWe have designed a prospective, open-label, nonrandomized, pilot clinical trial, to study the effect of a gluten-free and dairy-free (GF/DF) diet in children with SRNS. The study will be organized as a 4-week summer camp to implement a GF/DF diet in a tightly controlled and monitored setting. Blood, urine, and stool samples will be collected at different time points during the study.ResultsThe primary end point is a reduction of more than 50% in the urine protein:creatinine ratio. The secondary end points include changes in urine protein, kidney function, and serum albumin, as well as effects in immune activation, kidney injury biomarkers, and gut microbiome composition and function (metagenomic/metatranscriptomic).ConclusionThis study will advance the field by testing the effect of dietary changes in patients with SRNS in a highly controlled camp environment. In addition, we hope the results will help to identify a responder profile that may guide the design of a larger trial for further investigation.

Kidney disease affects 10% of the world population and is associated with increased mortality. Steroid-resistant nephrotic syndrome (SRNS) is a leading cause of end-stage kidney disease in children, often failing standard immunosuppression. Here, we report the results of a prospective study to investigate the immunological impact and safety of a gluten-free and dairy-free (GF/DF) diet in children with SRNS. The study was organized as a four-week summer camp implementing a strict GF/DF diet with prospective collection of blood, urine and stool in addition to whole exome sequencing WES of DNA of participants. Using flow cytometry, proteomic assays and microbiome metagenomics, we show that GF/DF diet had a major anti-inflammatory effect in all participants both at the protein and cellular level with 4-fold increase in T regulatory/T helper 17 cells ratio and the promotion of a favorable regulatory gut microbiota. Overall, GF/DF can have a significant anti-inflammatory effect in children with SRNS and further trials are warranted to investigate this potential dietary intervention in children with SRNS.

Care for patients with chronic and rare diseases is complex, especially considering the lack of knowledge about the disease, which makes early and precise diagnosis difficult, as well as the need for specific tests, sometimes of high complexity and cost. Added to these factors are difficulties in obtaining adequate treatment when available, in raising patient and family awareness about the disease and treatment compliance. Nephropathic cystinosis is among these diseases. After more than 20 years as a care center for these patients, the authors propose a follow-up protocol, which has been used with improvement in the quality of care and consists of a multidisciplinary approach, including care provided by a physician, nurse, psychologist, nutritionist and social worker. In this paper, each field objectively exposes how to address points that involve the stages of diagnosis and its communication with the patient and their relatives or guardians, covering the particularities of the disease and the treatment, the impact on the lives of patients and families, the approach to psychological and social issues and guidelines on medications and diets. This protocol could be adapted to the follow-up of patients with other rare diseases, including those with renal involvement. This proposal is expected to reach the largest number of professionals involved in the follow-up of these patients, strengthening the bases for the creation of a national protocol, observing the particularities of each case.