112 results
Inherited Defects in Kidney Tubule Epithelial Cells

Renal glucosuria - Na+-dependent glucose cotransporter
Cystinuria - Amino acid transporter
Bartter
Inherited Defects ... Cystinuria - Amino acid transporter ... Tubule #Epithelial #Inherited
Inherited Non-hemolytic Disorders of Hyperbilirubinemia 

== Disorders of Conjugation ==
Gilbert Syndrome:
 • 5-10% of the population
Inherited Non-hemolytic ... canalicular protein that transports ... Hyperbilirubinemia #Inherited
Nephron Physiology and Transporters
 • Proximal Tubule
 • Thick Ascending Limb
 • Distal Convoluted Tubule
 •
Physiology and Transporters ... pathophysiology #Transporters
Simplified Diagnosis of Metabolic Disorders
#Diagnosis #Peds #Pediatrics #Inherited #Congenital #Metabolism #Metabolic #Diseases #Disorders #Ketones #Ammonia #Differential
Peds #Pediatrics #Inherited
Criss-Cross Gait on Physical Exam 

Seen in Glucose Transporter type 1 Deficiency Syndrome

#CrissCross #Criss #Cross #Gait
Seen in Glucose Transporter
Approach to the Hypercoagulable State
Arterial thromboembolism
→ Cardiac rhythm monitoring, Echocardiogram, Vascular imaging
→ Test for APS, particularly
(Inherited thrombophilias ... Recurrent VTE → Inherited ... years of age → Inherited
Inherited Colorectal Cancer (CRS) Syndromes
Adenomatous Polyposis Syndromes:
 • Familial Adenomatous Polyposis (FAP), Attenuated FAP (AFAP), MUTYH
Inherited Colorectal ... DeanEhrlich_MD #Inherited
Causes of Hemolytic Anemia - Differential Diagnosis
Inherited
 • Membrane
 • Internal
    - Hemoglobin
Differential Diagnosis Inherited
Treatment of Bleeding in Selected Inherited Disorders of Hemostasis

#Bleeding #Disorders #HemophiliaA #HemophiliaB #Management #Table #Treatment
Bleeding in Selected Inherited
Renal Tubular Acidosis (RTA) 
Type 1 - Failure of secretion
Type 2 - Bicarbonate wasting
Type 4 -
Hypoaldosteronism Mixed* - Inherited