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diagnosis pediatrics 21hydroxylasedeficiency 21ohd disease endocrinology hematology hemeonc hemophagocytic hlh incomplete kawasaki lymphohistiocytosis management
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... deficiencies present in infants ... Signs/Symptoms/Complications ... #genetics #endocrinology ... #peds #pediatrics
Evaluation of suspected incomplete Kawasaki Disease 1. AHA consensus recommendations 2. Infants ≤6 months old on day ≥7
Infants ≤6 months ... lack of tapering, decreased ... echo is positive, treatment ... clinical and lab signs ... #Diagnosis #Peds
Hemophagocytic Lymphohistiocytosis (HLH) High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
hyperinflammatory syndrome caused ... Familial) HLH: - Genetic ... Onset: Usually in infancy ... Presentation • Common Signs ... Pathophysiology
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