6 results
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD ... #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Low Alkaline Phosphatase - Hypophosphatasia 

Is Low Alkaline Phosphatase Of Clinical Importance?

ALP enzyme- Discovered in 1923
Low
collection with EDTA Pathophysiology ... mineralization Symptoms ... neuropathy • Renal ... : - Renal failure ... Nephrolithiasis • Metabolic
Diabetic Ketoacidosis (DKA) - Pathogenesis and Clinical Findings
 • Note: in DKA, body K+ is lost
Due to neuronal metabolism ... resolves due to ATP ... Signs/Symptoms/Complications ... DiabeticKetoacidosis #DKA #pathophysiology ... #endocrinology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Immunosuppressive agents, Renal ... Etiology: • Pathophysiology ... Neurological symptoms ... Drug toxicity, Metabolic ... Seizures: Treat with AEDs
Rickets and Osteomalacia: Pathogenesis and Clinical Findings
 • Calcification inhibitors (excess exposure to A1, Fluoride, etidronate)
enzymes (like ALP ... Phosphate: renal ... Abnormal Vitamin D Metabolism ... #Osteomalacia #pathophysiology ... diagnosis #signs #symptoms
Anorexia Nervosa: Complications
CARDIAC ABNORMALITIES
 - Functional: Low BP, Sinus bradycardia, prolonged QT interval
 - Structural: Reduced
fasting/weight loss RENAL ... Cerebral Atrophy and Metabolic ... mortality rates of all ... Complications #pathophysiology ... diagnosis #signs #symptoms