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diagnosis 21hydroxylasedeficiency 21ohd amyotrophic endocrinology fever hypophosphatemia hypoxia lateral management neurology pediatrics peds pfapa phosphate pulmonary respiratory sclerosis syndrome
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... glands • Salt wasting ... Late (shock): cold ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... disrupt cellular function ... multiple spinal cord ... - Causes progressive ... - Further testing
Hypophosphatemia and Hypoxia - Pathophysiology ↓ Phosphate leads to ↓ red cell 2,3-DPG and a reduction
and Hypoxia - Pathophysiology ... impacts respiratory function ... is a cause of refractory ... phosphorus is seen in COPD ... patients with COPD
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis EPIDEMIOLOGY: PFAPA is the most common syndrome entailing
fever (FMF) PATHOPHYSIOLOGY ... lymphadenopathy can also ... detected with testing ... Also unlike PFAPA ... neutropenia (CyN) This genetic
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