ABSTRACT
Cystic fibrosis (CF) is a multiorgan disease, caused by autosomal recessive (AR) mutations in the cystic fibrosis transmembrane regulator (CFTR) acting primarily as a chloride channel. CF is most commonly diagnosed in Caucasian populations. Common clinical presentations in pediatric patients include chronic cough, respiratory tract infections such as pneumonia, digestive symptoms, and stunted growth, and malnutrition due to gastrointestinal malabsorption and pancreatic insufficiency. Excessive sweat sodium chloride losses due to dysfunctional sweat glands in CFTR result in volume contraction and secondary hyperaldosteronism leading to renal potassium losses and metabolic alkalosis. Hypokalemic hypochloremic metabolic alkalosis is a known but uncommon presenting sign of the disease, documented as pseudo Bartter syndrome. Common mutations in the CFTR gene are now included in prenatal genetic screening programs. We describe the case of an infant of African descent with normal prenatal screening who presented with severe hypokalemic hypochloremic metabolic alkalosis and was diagnosed with CF with further genetic confirmation of the diagnosis.
ABSTRACT
INTRODUCTION: Both hypothyroidism and zinc deficiency have been diagnosed over a long time. The endemic character of both disorders inspired an investigation into the relationship between these two phenomena. Zinc has a role in multiple metabolic processes; therefore, zinc depletion may lead to a serious and prolonged illness. It is well known that changes of zinc levels may correlate with changes in thyroid functions and vice versa. Nevertheless, despite this evidence, thyroid dysfunction does not always improve after zinc supplementation, even in cases of low zinc levels. This review reveals the complexity of the relationship between hypothyroid and zinc deficiency and discusses the options for evaluation and treatment of this mutual relationship.
Subject(s)
Hypothyroidism/epidemiology , Zinc/deficiency , Zinc/physiology , Humans , Hypothyroidism/metabolismABSTRACT
BACKGROUND: Endoscopic ultrasound is a diagnostic tool for evaluation of gastrointestinal diseases in adults, but in children the use of endoscopic ultrasound is limited. This study retrospectively evaluates endoscopic ultrasound indications in, safety in, and impact on children. PATIENTS AND METHODS: We reviewed the data of all of the pediatric patients (<18 years old) that underwent endoscopic ultrasound in our institution. The main goal was to evaluate the impact of endoscopic ultrasound in this patient population. Significant impact was defined as a new diagnosis or treatment attributed to the endoscopic ultrasound examination. RESULTS: Thirty-two children (21 boys, 11 girls) at mean age 12 +/- 5 years; (range = 1.5-18 years) underwent endoscopic ultrasound during a period of 6 years. The pancreas and biliary tract were examined in 19 children, esophagus in 8, and the stomach and rectum in 2 children each. Only 1 child had endoscopic ultrasound for duodenal indication. The indications in the pancreas and biliary tract group were recurrent pancreatitis in 9 children, cyst or mass in 6 children, and obstructive jaundice in 4 children. Indications in the esophagus group were stenosis in 4 children, and suspected duplication and esophageal mass in 2 children each. We used conscious sedation in 18 children and unconscious sedation in 12. Two children underwent endoscopic ultrasound with no anesthesia at all. In 7 cases, endoscopic ultrasound-guided fine-needle aspiration was performed. The procedure was successful in all of the patients with no complications. Endoscopic ultrasound changed the diagnosis or therapy in 14 cases. CONCLUSIONS: Endoscopic ultrasound is an effective tool in the evaluation of pediatric gastrointestinal patients, mostly with pancreatobiliary or esophageal disorders. Endoscopic ultrasound is a safe procedure with a significant impact in almost half of the children examined.
