615 results
Inherited Defects in Kidney Tubule Epithelial Cells

Renal glucosuria - Na+-dependent glucose cotransporter
Cystinuria - Amino acid transporter
Bartter
Inherited Defects ... sodium channels or defective ... Epithelial #Inherited #Defects
Platelet disorders and Aggregometry
Glanzmann Thrombasthenia
 • Defective aggregation to all agonists except ristocetin
 • Normal platelet,
Thrombasthenia • Defective ... Bernard-SouIier • Defective ... with qualitative defects
lodine deficiency
Food
lodine excess
Stress
Catecholamines
Estrogens
Carrier defect
Nat
TRH
Hypothalamic lesion
Dopamine
Somatostatin
Glucocorticoids
TSH
Pituitary insufficiency
Autoimmune disease
TSI
Peroxidase
Peroxidase deficiency
ОН
TG
DIT
Coupling
ОН
Cell proliferation
Thyroglobulin
TG
Cell damage by tumor, inflammation, etc.
Proteolysis
Goiter
TG
MIT
ОН
Defective conversion
T4
TG
TG
Storage
Colloid
Genetic defect,
Estrogens Carrier defect ... TG MIT ОН Defective ... Colloid Genetic defect ... thyroid Receptor defect
Characteristics of Common Lipid Disorders
Polygenic hypercholesterolemia
Atherogenic dyslipidemia
 • Frequently accompanied by central obesity or diabetes
Familial hypercholesterolemia,
life Familial defective ... comparison #table #defects
Humeral Avulsion of the Inferior Glenohumeral Ligament (HAGL)
 • Imaging Findings:
 • Large defect of the
Findings: • Large defect ... extravasating through the defect ... instability from the defective
Causes of Metabolic Alkalosis: Differential Diagnosis
ECF volume contracted: urine chloride concentration <20 meq/L
 • Gastric alkalosis:
tubule reabsorptive defect ... Bartter syndrome (defective ... Gitelman syndrome (defective
Classes of Mutations in the Gene Encoding Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Depending on the
the molecular defect ... CFTR trafficking defect ... expression but defective
Clinical features of focal cortical brain lesions in a right-handed individual

Frontal, either:  
Intellectual impairment, 
Personality
Homonymous field defect ... Homonymous field defect ... Homonymous field defect ... Visual field defects ... Visuospatial defects
Abiotrophia defectiva on Blood Culture and Microscopy
 - only growing on Chocolate Agar
 - Gram pos
Abiotrophia defectiva ... #Abiotrophia #defectiva
Distal Renal Tubular Acidosis
Distal RTA is the true Nephrogenic RTA and can be truly divided into
• H secretion defect ... Carbonic anhydrase II defects ... • H gradient defect ... problem • Voltage defect ... NH3 secretion defects