The Medical clinics of North America
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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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Chronic recurrent multifocal osteomyelitis (CRMO) is an underrecognized autoinflammatory disease affecting the skeletal system. Its vague symptoms are often first attributed to growing pains, infection, or malignancy, which can lead to a delay in diagnosis for days to years. ⋯ Treatment consists of various antiinflammatory medications and may also include bisphosphonates if vulnerable skeletal sites are involved. Even when treated, the disease may have a relapsing course lasting years.
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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.
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Anaphylaxis is a potentially-life threatening condition. Adolescents are particularly vulnerable due to increased risk-taking behaviors, poor disease management, and minimized perception of risk. Although most anaphylaxis can be attributed to food, drug, or venom allergy via a detailed history and confirmatory studies, in nearly 1 in 5 cases, the cause may not be obvious. Clinical differentials including rare allergens, cofactors, mast-cell disorders, and mimic disorders can increase the likelihood of discovering of the cause of anaphylaxis.