Inherited Disorders

Learning Objectives: In this Back to Basic post, the learner will be able to: 1. Review the physiology of iron absorption. 2. Differentiate between primary and secondary iron overload. 3. Identify...

Brief Case Presentation The patient is a 50-year-old African American with end-stage renal disease status post bilateral nephrectomies due to recurrent infection and on hemodialysis. She presented...

Alpha-1 antitrypsin deficiency (A1AD) is caused by mutations in the SERPINA1 gene, which leads to decreased levels of alpha-1 antitrypsin (A1A), resulting in both lung and liver disease. The...

Brief Case Presentation The patient is a very pleasant 55-year-old male with no known past medical history. He began to have symptoms such as increased thirst, sweet taste in the mouth, fatigue, and...

The Real Deal Behind Alagille Syndrome Background Alagille syndrome is an autosomal dominant, multisystem disorder with characteristic hepatic, cardiac, vascular, renal, skeletal, ocular, and facial...

Brief Case Presentation A 24 year old male with past medical history of major depressive disorder and BMI of 29.5 kg/m2 presented to his PCP for wellness visit and was found to have elevated liver...

Brief Case Presentation A 50-year-old male with a 30 pack-year smoking history and chronic obstructive pulmonary disease (COPD) status-post lung transplant presents for evaluation of mild...