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Alport’s Syndrome

Alport Syndrome

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…

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Precision Nephrology

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…

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Board question: Transplant-1 answer

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…

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Isolated microscopic hematuria

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…

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GBM Collagens & Alport’s Syndrome

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…

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Acquired GBM Disease

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…

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