12 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds ... #Pediatrics #Table
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Etiologies of Hypoaldosteronism

Hyporeninemic Hypoaldosteronism (Low Renin, Low Aldosterone)
 - Diabetic Nephropathy 
 - NSAIDs
Non-Hyporeninemic Hypoaldosteronism (Normal
Aldosterone) - ACE ... insufficiency - Critical ... Hypoaldosteronism #Differential ... Aldosterone #Comparison #Table ... #Causes
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Age Distribution of Hypertension Etiologies
< 1 month
 - Renal arterial thrombosis
 - Congenital renal disease
 -
- Mendelian genetic ... #Hypertension #Causes ... Secondary #diagnosis #differential ... #age #pediatrics ... #peds
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
exclude other causes ... Differential Diagnosis ... Genetic predisposition ... pregnancy, maternal age ... Clinical • Under-recognized
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... malignancy Pathophysiology ... Differential Diagnosis ... phenytoin, minoxidil), genetic ... or refractory cases
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
hyperinflammatory syndrome caused ... and treatment are ... Familial) HLH: - Genetic ... Clinical Presentation ... Pathophysiology
Hyperthermic Toxidromes
Five toxidromes may present with overlapping features: hyperthermia, rhabdomyolysis, altered mental status/seizures.
 • Sympathomimetic -
pharmacogenetic disease caused ... by genetic susceptibility ... ryanodine receptor) & triggered ... Toxidromes #comparison #table ... #diagnosis #differential
Nonscarring Alopecias: Clinical features of the most common types
Patterned hair loss:
 - Age: puberty or older
Nonscarring Alopecias: Clinical ... abrupt - May be triggered ... alopecia in 5% of cases ... with animals (eg pets ... Alopecia #types #differential