I recently saw a patient in clinic with long-standing hematuria with numerous family members on her mother’s side with hematuria. She now presented with proteinuria but stable renal function. Collagen IVa disease was highly suspected and genetic sequencing…
One of our attendings, Dr. Sylvia Betcher, PhD, MD gave an excellent presentation at our renal conference about genetic testing in renal diseases that she learned about at #KidneyWeek2015. There were so many good things I liked about…
The glomerular basement membrane is a thin layer of extracellular membrane proteins that is an important part of the filtration barrier, particularly glomerular permselectivity, by preventing proteins from crossing into the filtrate. The major proteins in the GBM…
The vast majority of people answered correctly; the best answer is D. Approximately 3-5% of patients with Alport’s syndrome develop de novo anti-glomerular basement membrane (GBM) disease in the transplanted kidney. Alport’s syndrome is a genetic disorder that…
An 18-year-old white man presents to the renal transplant clinic with complaints of fatigue and nausea for the last week. He was the recipient of a deceased donor kidney transplant 12 months prior and has experienced stable allograft…
We have had a rush of patients with isolated hematuria in my clinic recently. The question that occupies so much precious time of the nephrologist reared it’s head……. ‘what are the indications for a renal biopsy’. Isolated persistent…
Alport’s Syndrome is a genetic disorder characterized by glomerulonephritis, progression to ESRD, and hearing loss. Intriguingly, it can be inherited in either an X-linked, autosomal recessive, or autosomal dominant manner. Why is the inheritance pattern so complex and…
An interesting scenario of “acquired” anti-GBM disease can occur when a patient with Alport’s Syndrome gets a renal transplant. Patients with Alport’s Syndrome–a cause of hematuria with progressive renal failure and hearing loss–have mutations in genes encoding certain…
