1803 results
Classification of Diabetes Insipidus

Central or neurogenic diabetes insipidus:
 - Congenital - Structural malformations affecting the hypothalamus
or pituitary, Autosomal ... granulomatous diseases ... in AVPR2 gene, Autosomal ... Primary renal disease ... ), Sickle cell disease
Angioedema - Classification Diagnosis and Treatment
Types of Angioedema:
 • Acute allergic angioedema - Usually occurs with
angioedema - Rare autosomal ... dominant inherited disease ... deficiency - Rare autosomal ... dominant inherited disease
Von Willebrand Disease Classification
Type 1 (Accounts for ~3/4 of cases):
 • Defect: Quantitative defect (i.e. not
Von Willebrand Disease ... • Inheritance: Autosomal ... • Inheritance: Autosomal ... • Inheritance: Autosomal ... VonWillebrand #Disease
Krabbe Disease 

Check out this interesting case of Krabbe disease, a rare genetic leukodystrophy. Diagnosis was
Krabbe Disease ... case of Krabbe disease ... • Autosomal ... MarkMamloukMD #Krabbe #Disease
BEE Syndromes - Non-inflammatory Causes

Immune-mediated conditions affecting the Brain, Eye, and Ear

Visual or auditory symptoms in
and less common diseases ... infections • Lyme disease ... mutations • Autosomal ... OPA1) gene • Autosomal
Hypercalcemia - Differential Diagnosis Algorithm
Primary Hyperparathyroidism
 • Adenoma
 • Hyperplasia
 • MEN 1 and 2A
Tertiary Hyperparathyroidism
Hypercalcemia • Autosomal ... Metastatic Bone Disease ... Granulomatous Disease ... Thyrotoxicosis • Paget's Disease
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
deficiency, or Wolman’s disease ... , an autosomal recessive
Autosomal dominant PCKD with liver involvement on Renal Ultrasound
Multiple anechoic cysts seen in the kidney and
Autosomal dominant ... kidney #cystic #disease
Features of a Sickle Cell Crisis 
Sickle-cell disease - an autosomal recessive blood disorder.
Characterized by red
Sickle-cell disease ... - an autosomal ... Sickle cell disease
REPRISE Trial - Tolvaptan in CKD - Visual Abstract

Does tolvaptan slow the progression of autosomal dominant
progression of autosomal ... polycystic kidney disease ... relieved some disease