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Inherited kidney diseases

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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Hypokalemia and deafness

I attended a research seminar last week given by the discoverer of EAST syndrome. This a rare, autosomal recessive condition in which children present with Epilepsy, Ataxia, Sensorineural deafness and Tubulopathy. It was a fascinating lecture detailing the…

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Fabry’s disease and the kidney

I read a nice review of Fabry’s disease recently, and was surprised to read that its prevalence in ESRD may be as high as 1-2%. That figure is likely an underestimate, given the frequent failure to screen for…

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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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Hermansky-Pudlak Syndrome

This is one that Nate would have liked….I recently saw a case of renal disease in an albino Peurto Rican woman with severe pulmonary fibrosis. She holds the diagnosis of Hermansky-Pudlak Syndrome (HPS).HPS is an autosomal recessive disorder…

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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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