Chapter 26: Focal Segmental Glomerulosclerosis
A 30-year-old African–American man presents with edema, hypertension, urine protein 8 g/24 hours, serum albumin is 2.5 g/dL, and serum creatinine of 1.9 mg/dL. HIV, hepatitis B and C testing demonstrates no evidence for acute or chronic infection.
What is the next test needed to identify the diagnosis in this patient?
B. Urine protein electrophoresis
C. Ultrasound guided kidney biopsy
D. CT scan of the kidneys and bladder
The answer is C. In this otherwise healthy individual, the finding of nephrotic range proteinuria, hypoalbuminemia, elevated serum creatinine and no evidence of infection, suggest that the etiology is kidney disease with a requirement to assess the renal tissue for diagnosis.
The kidney biopsy of 30-year-old African–American man presenting with nephrotic syndrome, serum creatinine of 1.9 mg/dL, and negative testing for HIV and hepatitis B and C revealed focal and segmental glomerulosclerosis (FSGS). He has no family history of nephrotic syndrome, FSGS, or kidney failure. He asks if he should have genetic testing to guide his therapy.
What factors should be considered to guide the recommendation for genetic testing?
B. Evaluation for kidney transplant preparation
D. Patient interest in research
The answer is E. In adults with FSGS and no family history of disease, genetic testing may be considered as part of the FSGS recurrence post-transplant risk assessment. Specifically, causative genetic polymorphisms confer a lower risk for FSGS recurrence. Genetic testing has been incorporated in many research studies that support discovery of disease mechanisms, novel therapeutic targets, and phenotype/genotype associations.
A 17-year-old woman with sickle cell disease presents with proteinuria of 1.5 g/24 hour, serum albumin 3.5 g/dL, serum creatinine of 0.7 mg/dL and blood pressure of 126/64. She has a history of previous episodes of pain crises but is currently asymptomatic. Infection evaluation for HIV and hepatitis B and C is negative. Kidney biopsy reveals focal and segmental glomerulosclerosis (FSGS) with mild podocyte foot process effacement.
Which of the following is the most appropriate treatment option for this patient?
B. Angiotensin-converting enzyme Inhibitor
C. Scheduled red blood cell transfusions