![]() ![]() As of 2014, less than 2/3 of cases are detected by newborn screening, so providers must keep it on their differential, especially in young children with recurrent pulmonary infections, sinus infections, failure to thrive, and constipation or meconium ileus. ĬF affects 1 in 3,200 Caucasian births and is primarily thought of as a Caucasian disease, though it is also seen in other ethnicities at lower frequencies. It also has detrimental effects on the reproductive, musculoskeletal, and urinary systems, but these are rarely relevant in the Emergency Department (ED). With excessive sweating, this can lead to hyponatremic hypochloremic dehydration. ![]() In the sweat glands, chloride reabsorption is impaired, leading to excess sodium chloride loss. Without chloride, water cannot follow, and the end result is thick, hyperviscous secretions in the lung, sinuses, pancreas, intestines, and biliary system. In short, a defective CFTR channel prevents mucous and exocrine glands from secreting chloride. Authors: Stephanie Tassin, MD (EM Resident at SAUSHEC) and Brit Long, MD EM Attending Physician at SAUSHEC) // Edited by: Jennifer Robertson, MD, MSEd and Alex Koyfman, MD EM Attending Physician, UTSW Medical Center / Parkland Memorial Hospital) IntroductionĬystic fibrosis (CF) is a life-shortening, autosomal recessive disease that affects multiple organ systems via mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) chloride channel. ![]()
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