7 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... > Neonatal and infantile ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Acute Fatty Liver ... Pregnancy (AFLP) Pathophysiology ... postpartum): • Initial symptoms ... #Pregnancy #hepatology ... diagnosis #management #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... a scrotum #21HydroxylaseDeficiency ... #21OHD #pathophysiology ... endocrinology #peds #pediatrics
Primary Biliary Cirrhosis (PBC) - Summary

PBC Epidemiology:
 • Female:Male 9:1
 • Common European descent
 • Age:
65 years PBC Pathophysiology ... cholestasis → Cirrhosis/Liver ... PBC Signs and Symptoms ... or higher • Liver ... diagnosis #workup #hepatology
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

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Clinical features of Liver ... LiverFailure #Signs #Symptoms ... Diagnosis #Peds #Pediatrics ... #Hepatology
Low Alkaline Phosphatase - Hypophosphatasia 

Is Low Alkaline Phosphatase Of Clinical Importance?

ALP enzyme- Discovered in 1923
Low
synthesized in: liver ... collection with EDTA Pathophysiology ... mineralization Symptoms ... Hyophosphatasia #hepatology
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
Common Signs and Symptoms ... - Elevated liver ... Pathophysiology ... Diagnosis #Management #Hematology