Diagnosis: Goodpasture Syndrome

Pathophysiology
● Circulating autoantibodies attacking the glomerular basement
membrane, resulting in crescentic glomerulonephritis.
● Rapidly progressing kidney failure and lung disease

Epidemiology
● 0.6 to 1.8 cases per million per year in Asian and European
populations
● 10%-20% of crescentic glomerulonephritis

● Men and Women affected equally

● Acquired: Viral infection or hydrocarbon inhalation

Symptoms and Signs

● Shortness of breath

● Chest pain

● Hemoptysis

● Pallor/Cyanosis

● Tachypnea

● Hypertension

● Edema

● Basilar inspiratory crackles

Diagnostic Tests
● Kidney biopsy

● ELISA assay – circulating anti-GBM antibodies

● CBC & UA

● Renal function test

● Pulmonary function test

● Chest X-ray

Treatment
● Urgent hemodialysis

● Daily plasmapheresis
 ● Meds: Prednisone & Cyclophosphamide

● Blood pressure control: ACE & ARBs

● Kidney transplant

Diagnosis: Dubin-Johnson Syndrome

Pathophysiology
● Autosomal recessive: mutation of ABCC2 gene (Chromosome 10)

● Defective production of Multidrug Resistance Protein 2 – removes

excess bilirubin
● Defective endogenous and exogenous transfer of anionic
conjugates from hepatocytes into bile–conjugated
hyperbilirubinemia

Epidemiology
● Men & Women are affected equally.

● Manifests in adolescence and young adults

● Frequently seen in Sephardic Jews

Symptoms and Signs

● Jaundice

● Black brown pigment in liver

● Fatigue

● Abdominal pain

● Nausea/Vomiting

● Abnormal urine color

 ● Hepatomegaly

Diagnostic Tests
● H&P with family history

● Liver biopsy

● Bilirubin blood test

● Liver enzyme test

● Urine coproporphyrin levels

Treatment
● No specific therapy

● Symptomatic treatment only

● Avoid alcohol

● Avoid oral contraceptive use

● Avoid pregnancy