RESUMO
This case report describes a boy with a rare genetic disease that primarily affects the kidneys and has implications on growth and development. Dent disease type 1 is an X-linked tubulopathy mainly caused by inactivating mutations in the chloride voltage-gated channel 5 (CLCN5) gene. It is a rare but important diagnosis for children with variable phenotypic presentations that can include low molecular weight proteinuria (LMWP), nephrocalcinosis, bony deformities and possible progression to early-onset renal failure. A delay in diagnosis is often encountered when it comes to Dent disease. This is due to the similarities in presentation of the disease to other commonly seen pediatric conditions (such as minimal change nephrotic syndrome, nutritional rickets, renal tubular acidosis [RTA], etc.) and also since it can present with variable phenotypes and has a great amount of allelic heterogeneity. In this case, it was diagnosed after 13 years from symptom onset. The patient was subjected to alternative forms of medicine, multiple working diagnoses and associated treatments at various hospitals which most likely contributed to a faster disease progression. In addition to the treatment of the disease, growth hormone (GH) therapy has proven to be beneficial but was not offered to this patient. In this case, we would also like to report some rare findings such as persistent hypercholesterolemia and steroid-resistant nephrotic syndrome (SRNS) biopsy pattern. We decided to pursue this particular disease to highlight the importance of having a high clinical suspicion with a view to attain a definitive diagnosis and instituting appropriate treatment as soon as possible. We also highlight the importance of keeping the patient informed about their disease, the possible therapeutic options and the importance of genetic counselling and patient education.
RESUMO
CONTEXT: Appalachia, a socioeconomically disadvantaged rural region in the eastern U.S., has one of the nation's highest prevalence rates of smoking and some of the poorest health outcomes. Effective interventions that lower smoking rates in Appalachia have great potential to reduce health disparities and preventable illness; however, a better understanding of effective interventions is needed. EVIDENCE ACQUISITION: This review included trials that evaluated the impact of smoking-cessation programs among populations living in Appalachia. The search was carried out on October 9, 2018 and comprised the Cochrane Central Register of Controlled Trials, Medline, Embase, and Scopus for academic journal articles published in English, with no date restrictions. After preliminary screening, potentially relevant full-text articles were independently reviewed by the authors with a Cohen's κ of 0.72, leading to the final inclusion of 9 articles. EVIDENCE SYNTHESIS: Eligible studies were assessed qualitatively for heterogeneity and risk of bias. Six of the 9 included studies had extractable data related to dichotomous smoking status and reported a measure of association suitable for inclusion in a meta-analysis. For those 6 studies, the pooled RR and pooled OR were estimated using random effects models, with an I2 index demonstrating substantial heterogeneity. A funnel plot of the 6 trials appeared relatively symmetric. CONCLUSIONS: Participation in smoking-cessation interventions increased the probability of smoking abstinence among Appalachian smokers by an estimated 2.33 times (pooled RR=2.33, 95% CI=1.03, 5.25, p=0.04). Given the low number of studies, their substantial heterogeneity, and high risk of bias, the evidence of the effectiveness of smoking-cessation interventions in Appalachia must be interpreted with caution.
