The Medical clinics of North America
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Common variable immunodeficiency (CVID) is the most common primary immune deficiency characterized by impaired production of specific immunoglobulin. The clinical manifestations are heterogeneous including acquisition of recurrent bacterial infections after a period of wellness, lymphoproliferation, autoimmunity, pulmonary disease, liver disease, enteropathy, granulomas, and an increased risk of malignancy. The etiology of CVID is largely unknown, with a considerable number of patients having an underlying genetic defect causing immune dysregulation. The antibody deficiency found in CVID is treated with lifelong immunoglobulin therapy, which is preventative of the majority of infections when given regularly.
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Pediatric adolescent muscle weakness can be from a variety of causes. Methodical diagnostic evaluation can lead to the category of diseases whereby phenotypic overlap requires either specialized care or broad testing patterns. However, having the ultimate diagnosis is important for prognostication.
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Monogenic hypertension encompasses a group of conditions wherein single gene mutations result in increased renal sodium reabsorption manifesting as low renin hypertension. As these diseases are rare, their contribution to hypertension in children and adolescents is often overlooked. Precise diagnosis is essential in those who have not been found to have more common identifiable causes of hypertension in adolescents, since treatment strategies for these rare conditions are specific and different from antihypertensive regimens for the other more common causes of hypertension in this age group. The objective of this review is to provide insight to the rare, monogenic forms of hypertension.
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Med. Clin. North Am. · Jan 2024
ReviewSevere, Refractory Seizures: New-Onset Refractory Status Epilepticus and Febrile Infection-Related Epilepsy Syndrome.
NORSE (new-onset refractory status epilepticus) and FIRES (febrile infection-related epilepsy syndrome) represent presentations of new-onset status epilepticus without apparent underlying structural, metabolic, or toxic etiology. The cause of NORSE/FIRES remains cryptogenic in up to half of cases, and an abnormal response of the innate immune system has been implicated. Consensus guidelines recommend broad diagnostic investigation and empiric treatment with immunotherapy. NORSE/FIRES is associated with poor outcomes including cognitive impairment and epilepsy, but early recognition and treatment may be important for improving outcomes.
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Maturity onset diabetes of the young (MODY) describes a group of non-autoimmune forms of diabetes that are characterized by mostly autosomal dominant, monogenic mutations resulting in decreased beta cell function in the pancreas. MODY accounts for roughly 1% to 5% of diabetes cases, and the optimal treatment for each MODY depends on the causative mutation. This article provides a review of MODY to aid providers with knowing what aspects of the history and physical exam should prompt further investigation for this group of conditions.